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Introduction: Initial surge of thyroid-stimulating hormone (TSH) in neonates increases free and total triiodothyronine (T3) and tetraiodothyronine (T4) in 24–36 hours following birth, and the effect then gradually wanes off. As somatic and intellectual development is dependent on normal thyroid function especially in infancy, normative data in these children may be of immense value to diagnose hypothyroidism in this subset of infants. Comprehensive normative values of thyroid function parameters in preterm neonates are scarcely available. The objective of this study was to determine the normative value of thyroid function parameters in preterm neonates. Methods: Preterm neonates (n = 102) born at 34 and 35 weeks of gestation of euthyroid mothers from an iodine-sufficient population were evaluated for T3, T4, free thyroxine (FT4) and TSH during 3–7 days after birth and again after 1 month. The expected date of delivery (EDD) and Ballard score were used to identify the duration of gestation. Results: The mean gestational age was 34.7 ± 0.41 weeks. The mean (± SD) for T3 (ng/dl), T4 (μg/dl), FT4 (ng/ml) and TSH (μIU/ml) on days 3–7 following birth was as follows: 156 ± 44.6, 12.8 ± 3.7, 1.50 ± 0.54 and 7.13 ± 6.04, respectively. Around 4 weeks of age, values changed to 104 ± 38.4, 12.1 ± 4.02, 1.46 ± 0.42 and 3.25 ± 2.85, respectively. All parameters changed significantly around 4 weeks, except FT4. None of the parameters were correlated with gestational age or body weight at birth. Normative values for each parameter in percentiles were generated. Conclusion: This study generated the normative values of the thyroid function test during the first week and after around 4 weeks of life for premature neonates (born at 34–35 weeks).

Introduction: A structured dedicated health programme for Type 1 diabetes mellitus (T1DM) has been initiated in the state of West Bengal, India. Aim: The aim is to provide comprehensive healthcare to all children, adolescents and young adults living with T1DM, along with the provision of free supply of insulin, glucose measuring devices, blood glucose test strips, and other logistics. The strategic framework for programme implementation is to utilise the infrastructure and manpower of the already existing non-communicable disease (NCD) clinic under National Health Mission. Methodology: Establishing dedicated T1DM clinics in each district hospital by utilising existing healthcare delivery systems, intensive training and hand-holding of named human resources; providing comprehensive healthcare service and structured diabetes education to all T1DM patients; and building an electronic registry of patients are important components of the programme. T1DM clinics run once a week on the same day throughout the state. All T1DM patients are treated with the correct dose of insulin, both human regular insulin and glargine insulin. Patients are routinely monitored monthly to ensure good glycaemic control and prevent complications of the disease. Routine anthropometric examination and required laboratory investigations are conducted in the set-up of the already existing NCD clinic. Ongoing monitoring and evaluation of the T1DM programme are being conducted in terms of glycated haemoglobin (HbA1c) values, growth and development, complication rates, psychological well-being, quality of life, and direct and indirect expenditure incurred by families. Through this programme, any bottlenecks or gaps in service delivery will be identified and corrective measures will be adopted to ensure better health outcomes for those living with T1DM.

Introduction: The studies in animal models of cirrhosis suggest that dipeptidyl peptidase type 4 (DPP-4) enzymes play a crucial role in disease pathogenesis. In this clinical observational study, activity of DPP-4 and related gene expression were analysed in chronic liver disease patients. Objectives: To understand the DPP-4 enzyme activity variation in the common types of chronic liver disease by assessing plasma and peripheral blood mononuclear cell (PBMC) DPP-4 activity and comparing with healthy controls and to explore DPP-4 gene expression in PBMC. Methods: We recruited 130 study subjects in four cohorts—46 nonalcoholic fatty liver disease (NAFLD), 23 non-alcoholic cirrhosis (NAC) excluding viral aetiology, 21 alcoholic liver disease (ALC), and 40 control subjects. Blood samples were analysed for relevant biochemical parameters and plasma DPP-4 activity. PBMC fraction was used for the DPP-4 activity assay and gene expression analysis. Results: We found that lower plasma DPP-4 activity among patient cohorts but this was not statistically significant. The PBMC DPP-4 activity was significantly lower in NAFLD cohort. In the same cohort, DPP-4 gene expression in PBMC fraction was significantly increased (P < 0.05). There was significant correlation between plasma DPP-4 activity and liver injury marker alanine aminotransferase (ALT) among NAFLD (rho = 0.459, P < 0.01), NAC (rho = 0.475, P < 0.05), and ALC (rho = –0.572, P < 0.01) patients. Plasma DPP-4 activity modestly predicted ALT plasma level (beta coefficient = 0.489, P < 0.01). Conclusions: The PBMC DPP-4 activity and DPP-4 gene expression gets significantly altered in NAFLD patients. Plasma DPP-4 activity also shows correlation with ALT levels in CLD patients. The role of DPP-4 in disease pathology in NAFLD and other forms of CLD needs to be explored.

Background: Type 1 diabetes is associated with several disease-related and other organ-specific autoimmune disorders. Data related to various auto-antibodies in Type 1 diabetes in India is limited. Materials and Methods: In this cross sectional study, 92 subjects with T1DM (33 males, 59 females) were evaluated for T1DM related antibodies (autoantibodies to glutamic acid decarboxylase (anti-GAD), autoantibodies to protein tyrosine phosphatise (anti-IA2), anti-islet cell antibody (ICA), insulin autoantibody (IAA), anti-Zinc Transporter(ZnT8) and other organ specific auto antibodies like anti–thyroid peroxidase (anti-TPO), anti-thyroglobulin (TgAb), IgA anti-tissue transglutaminase (IgA anti-tTG), anti-21-hydroxylase, and anti-ovarian antibody (in females). Results: Anti-GAD, IA-2, islet cell antibody, insulin autoantibodies (IAA), ZnT8 antibody were present in 79.3%, 32.6%, 61.9%, 63%, and 20.65% subjects, respectively. Only 2.2% patients with Type 1 diabetes were antibody negative. At least one antibody was found in 97.8% and at least two antibodies in 67.3%. The presence of anti-TPO, anti-thyroglobulin, IgA anti-tissue transglutaminase, anti 21-hydroxylase were found in 51%, 25%, 22.8%, and 2.1%, respectively. Anti-ovarian antibody was absent in all females of our study population. The duration of diabetes positively correlated with the number of T1DM specific antibody and also with GAD antibody positivity. Anti TPO positivity correlated with the age of onset of T1DM, but not with the duration of disease or presence of other T1DM specific autoantibody. Conclusions: T1DM is associated with a high prevalence of autoantibodies and antibody negative T1DM is rare. The association with other organ specific antibody (especially thyroid and adrenal glands) and celiac disease is also substantial, which reinforces the importance of regular thyroid and celiac disease screening in T1DM subjects. The duration of diabetes positively correlated with number of T1DM specific antibodies.

Background: Sheehan's syndrome (SS) occurs due to ischemic pituitary necrosis resulting from severe postpartum hemorrhage (PPH). SS is characterized by varying degrees of pituitary insufficiency involving mostly the anterior lobe. Comprehensive data on SS apart from endocrine dysfunction is scarcely available. Materials and Methods: Thirty-eight subjects previously diagnosed with SS were enrolled in this observational study. Their clinical, biochemical, hormonal, radiological data at presentation were recorded from past records and bone density was measured in all. Results: Mean (±SD) age was 39 (±8.7) years and diagnostic delay was 9.3 (±5.5) years. All had history of PPH and lactation failure. About 47% were referred from emergency, and rest 53% were diagnosed from outpatient's department. Mean free T4, TSH, prolactin, morning cortisol, FSH, LH, and IGF-1 were mostly low. Panhypopituitarism was present in 97%. Hyponatremia was most common electrolyte imbalance found in about 53%. More than 40% had elevated transaminases. Dyslipidemia especially low HDL was found in 31 (81.5%) subjects. MRI of hypothalamus–pituitary region showed empty sella in 53% and partial empty sella in 47%. About 13% subjects had diabetes mellitus. Low bone mass (BMD Z-Score ≤-1) was seen in 80% and it was more severe (BMD Z-Score ≤-2) in 44% subjects, affecting predominantly lumbar spine. Bone loss at femoral neck was less prominent. Conclusion: Apart from variable spectrum of clinical presentation, subjects with SS have significant abnormalities in serum electrolytes, metabolic parameters. Low bone mass is also a frequent accompaniment.

Background: High resolution ultrasonography (USG) is the first-line investigation in evaluation of euthyroid nodules. Thyroid imaging reporting and data system (TIRADS) is an USG-based risk stratification system for classifying thyroid nodules. Subjects with high-risk category of TIRADS undergo fine needle aspiration cytology (FNAC) and FNAC findings are reported according to Bethesda classification. Bethesda categories are used for determining risk of malignancy. Data regarding sonographic classification of thyroid nodule and its cytological association with respect to final histopathological diagnosis remains scarcely available in India. Aims and Objective: The study evaluated euthyroid nodules for risk of malignancy and compared sonographic features and FNAC (Bethesda classification) findings with histopathology of excised samples. Material and Methods: This was a single-center observational study on 137 consecutive subjects of solitary euthyroid nodule. All subjects underwent USG according to TIRADS and FNAC where applicable. Surgical biopsy report was used as a gold standard. Results: The sensitivity, specificity, accuracy, positive predictive and negative predictive value of FNAC were 80%, 90%, 85%, 86%, and 86.6% and TIRADS were 80%, 47.2% 61%, 51.3%, and 77.3%, respectively. FNAC classification was equally sensitive and more specific than TIRADS. Among individual USG parameters, micro-calcification was most sensitive (80%) and specific (86%). Irregular margin and taller-than-wider shape had a specificity of 89% and 92%, respectively. 3 patients (14.28%) with benign cytology and suspicious USG features (specifically TIRADS 4 & 5) undergoing surgery had malignancy in final HPE. Conclusions: USG and FNAC are equally sensitive in diagnosing malignant thyroid nodule but FNA is more specific (90%). It's a minimally invasive method which can be used to distinguish malignant from benign lesions with a high degree of accuracy (85%). In patient having high risk feature on USG, a benign cytology needs to be repeat FNAC and they should undergo surgical biopsy for confirmation.

Introduction: Short penile length is a commonly encountered problem in clinical practice. Detection of abnormal stretched penile length (SPL) warrants appropriate endocrine evaluation. Ethnicity-specific SPL data are required to detect these abnormalities. There is a dearth of such data in India. This study aims to establish normative values of SPL in boys from West Bengal. Materials and Methods: This is a cross-sectional study. SPL, testicular volume (TV), height/length, and weight were measured in 460 boys aged 1 to 13 years from the schools located at urban, suburban, and rural areas in the state of West Bengal, India. Similar data were collected from 36 healthy neonates within 1–3 days of full-term delivery at IPGME and R and SSKM Hospital, Kolkata, West Bengal, India. Results: The 5th percentile, median, and 95th percentile of SPL were 1.7, 2.0, and 2.7 cm for neonates; 3.5, 4.4, and 6.4 cm for the children aged 1 Y–2 Y 11 M; 4.0, 5.5, and 7.0 cm for the age group 3 Y–4 Y 11 M; 4.2, 6.0, and 7.2 cm for the age group 5 Y–6 Y 11 M; 4.3, 6.0, and 7.6 cm for the age group 7 Y–8 Y 11 M; 4.4, 6.5, and 9.0 cm for the age group 9 Y–10 Y 11 M; and 4.8, 7.0, and 11.0 cm for the age group 11 Y–12 Y 11 M, respectively. SPL showed significant positive correlation with TV [r = 0.365, P < 0.0005] and height of the children [r = 0.516, P < 0.0005], but not with BMI. Conclusion: Our study provides normative data of SPL in neonate and children aged 1 to 13 years from the eastern part of India. SPL value correlated positively with TV and height of children.

Context: There is no consensus about the inflection point for 25 hydroxy vitamin D below which the intact PTH level increases. Objective: Determine the relationship/inflection point between 25 hydroxy vitamin D and parathormone levels. Materials and Methods: We performed a population-based analysis on a nonobese cohort (n = 405). Results: Prevalence of vitamin D deficiency was 58.76% (n = 228). Vitamin D insufficiency was found in 34.56% (n = 140). An inverse relationship between 25 hydroxy vitamin D (25(OH)D) and intact PTH exist, but strength of such relationship is weak (r = −0.16, P = 0.018). With respect to the 25(OH)D cut-off of 16 ng/mL by IOM (EAR linked), proportion of persons with high intact PTH was higher in the group with lower 25(OH)D compared with higher 25(OH)D group (P = 0.005) and it was similar for RDA linked cut-off of 20 ng/mL also (P = 0.017). LOWESS method revealed two inflection points at which PTH levels change. A less conspicuous inflection point was found at 32 ng/mL (95% CI, 27–36), which reasonably corroborates with the current cutoff of definition of vitamin D sufficiency, and the second, steeper inflection point was found at 16.5 ng/ml (95% CI, 14.9–18.8) which corroborates with the IOM supported EAR linked value of 25(OH)D level in general population and possible definition of vitamin D deficiency. Conclusions: There are possibly two inflection points at which PTH levels change in relation to 25(OH)D levels

As the first biologics produced by recombinant deoxyribonucleic acid (DNA) technology were approved in the late 1980s and consequently the exclusive marketing rights of most of these biological medicinal products have expired or will expire very shortly, it is quite evident that biosimilars are being developed and marketed in developed as well as developing countries in line with these expiries. Hence, there is an explosion of published papers and scientific programs on biological medicinal products and biosimilar insulins in the last decade or so. Each of these papers or scientific programs generated more questions than providing clinically useful answers. The specific aim of the medical literature or scientific programs were blurred due to lot of attention (created by the innovators) directed towards confusing terminologies, past mishaps with biosimilars (in the era with the absence of regulatory guidelines for biosimilars) diverting our attention from the matters relevant to clinicians and patients. One of the principle reason behind this phenomenon has been our poor understanding of the manufacturing process, regulatory pathways, and study endpoints involved in developing a biosimilar in the present era. This drawback resulted in a nonsystematic approach in analyzing the biosimilars and apparently resulting in confusion. This review attempts at demystifying certain facets of frequently encountered information on biosimilars and acquire a personal understanding on the same, rather than depending on conflicting versions floated at different continuing medical educations (CMEs) and Diabetes Congresses.

Introduction: Uric acid, apparently an inert waste product, was found to have association with various metabolic disorders. The data regarding prevalence of serum uric acid (SUA) abnormalities and its correlation with other anthropo-metabolic parameters, however, are scanty. Materials and Methods: In all, 405 participants from a rural area were investigated for various metabolic parameters including uric acid. SUA level was evaluated for having any correlation with other anthropometric and metabolic disorders like obesity, dyslipidemia, metabolic syndrome (MetS), hypertension, calcium and vitamin D abnormalities, liver function, and glycemic alterations. Lean MetS is defined as those having waist criteria below the region specific waist criteria and even then satisfying the definition of MetS as per the National Cholesterol Education Program (NCEP) ATP-III (Adult Treatment Panel) criteria. Results: The mean uric acid was 4.2 mg/dL (±1.35), with 4.9 mg/dL (±1.28) for males and 3.7 mg/dL (±1.14) for females. Thirteen of 405 people (3.2%) found to have uric acid level of more than 7.0 mg/dL, and eight people out of 405 (2.0%) had hypouricemia. SUA showed correlation with age, blood pressure, and the anthropometric parameters for obesity, for example, weight, body mass index, waist circumference, waist hip ratio, waist height ratio, fasting insulin, Homeostatic Model Assessment of Insulin Resistance (HOMA-IR), low-density lipoprotein (LDL)-cholesterol, high-density lipoprotein (HDL)-cholesterol, and triglycerides. However, fasting glucose, calcium, phosphate, 25-hydroxy vitamin D3, and iPTH did not show any correlation with the SUA level. Compared to the healthy population, SUA level was elevated in MetS as defined by International Diabetes Federation (IDF) criteria. However, the SUA in healthy population was not significantly different from the Lean MetS, and SUA of Lean MetS was not significantly different from Obese MetS. Conclusion: SUA is elevated in MetS compared to the normal population. However, SUA in Lean MetS is not different from Obese MetS.

Context: Biochemical Vitamin D deficiency is said to be present universally in recent times. However, its effect is more profound in modulation of anthropometric and biochemical risk factors of various chronic metabolic disorders rather than its influence on bone mineral abnormalities. The present study was undertaken to compare various anthropometric and biochemical parameters including basic bone mineral biochemistry in various strata of Vitamin D status. Materials and Methods: A population based study was done in the rural area of West Bengal comprising 405 people (initially targeted 400) to look for various anthropometric and biochemical parameters. Results: Anthropometric metabolic markers like BMI, WC, waist to height ratio and biochemical parameters like total cholesterol, LDL, TG, insulin, ALT, FPG were statistically significantly higher in vitamin D deficient (

Objective: New-onset diabetes after transplantation (NODAT) develops frequently after renal transplant. The study aims at the prevalence of NODAT , predictors for developing it and therapeutic glycemic responses in NODAT. Materials and Methods: Consecutive renal transplant recipients excluding Diabetic Kidney Disease (DKD) or pretransplant diabetes were evaluated. Forty-three out of 250 persons were found to have NODAT. Ninety age-matched transplant recipients from the rest were recruited as control. Fasting blood sugar (FBS), HbA1c, lipid profile, and trough tacrolimus level (T0) were examined in all. HOMA IR C-peptide and HOMA-beta C-peptide were calculated. Results: Prevalence of NODAT in renal transplant recipients was 17.2% (43/250). Twenty-four (55.8%) developed early NODAT (1 year). Significantly higher pretransplant body mass index (BMI) (kg/m2) (P < 0.001), waist circumference (WC) (cm) (P < 0.001), pretransplant cholesterol (mg%) (P = 0.04), triglyceride (mg%) (P < 0.001), and FBS (mg%) (P < 0.001) were found in NODAT compared with non-NODAT. Trough tacrolimus (ng/mL) was found to be higher in NODAT (10.2 vs. 5.37, P < 0.001). Though HOMA IR was not found to be different between groups, HOMA-beta C-peptide was low in NODAT compared with non-NODAT (P = 0.03). Predictors of NODAT were WC [odds ratio (OR) = 01.15] and trough tacrolimus level (OR = 1.316). Best cut-off of WC for predicting NODAT was 87.5 cm for male and 83.5 cm for female. Best cut-off of T0 was 8.5 ng/mL. In NODAT, 9.3% were treated by lifestyle modification, 67.4% by oral hypoglycemic agents, 11.6% by insulin, and 11.6% by combined insulin and oral antidiabetic agents with HbA1c

Aims and Objectives: Metabolic syndrome (MetS) is fairly common in India. International Diabetes Federation (IDF) has defined it as the presence of central obesity with region/ethnicity-specific waist circumference as a mandatory defining criterion along with the presence of two other features from dysglycemia, systolic and/or diastolic hypertension, hypertriglyceridemia, and low high-density lipoprotein. Although obesity is not prevalent in rural parts of India, especially among the underprivileged population, other individual components of the syndrome are not infrequent among these lean/nonobese persons. In this study, we evaluated the prevalence of MetS in rural West Bengal. We also examined that if those persons above the recommended cutoff for waist are excluded, and thus only lean/nonobese persons are included, and the same definition of MetS (herein termed as lean MetS) is applied (three out of four criteria), what will be the prevalence of MetS and will it be lower in the nontribal population compared to the tribal population? Materials and Methods: A population-based study was done in the rural area of West Bengal comprising 200 peoples from scheduled tribe (ST) population and 205 people from the neighborhood community from non-ST population to compare the metabolic health with respect to anthropologic and biochemical parameters. Results: The prevalence of MetS from rural areas of West Bengal was found to be 21.48% as per IDF criterion, but applying NCEP ATP III criteria, the overall prevalence of MetS rose to 31.1%. The prevalence of normal waist/lean MetS was 12.8%, and there was no significant difference between nontribals versus tribal cohort (14.6% of the nontribes versus 11.6% of the tribal cohort, P = 0.436). Conclusion: A significant number of persons with nonobese/lean MetS exist in the rural area. We suggest that if region-specific waist criteria are not satisfied, the diagnosis should still be sorted by NCEP ATP III criteria.

Objective: Type 2 diabetes mellitus and thyroid dysfunction (TD) are two major public health endocrine problem, but the prevalence of TD and iodine status in patients with T2 DM in India is less studied. The study objective was to explore the prevalence of TD and to evaluate iodine health in type 2 diabetes patients attending a tertiary care center in Eastern India. Methods: Consecutive 100 patients with diabetes attending outpatient department were evaluated clinically and biochemically (thyrotropin [TSH], free thyroxine, anti-TPO antibody, and urinary iodine). We excluded pregnant women or patients taking drugs that can alter thyroid function. Subclinical hypothyroid and overt hypothyroidism were diagnosed as per standard definitions. Results: Out of 100 patients were analyzed, 51 (51%) were male. Mean (±standard deviation) age was 45.4 ± 11.2 years, body mass index 24.1 ± 4.28 kg/m2, and duration of diabetes 7.76 ± 5.77 years. The prevalence of subclinical hypothyroidism and overt hypothyroidism was 23/100 (23%) and 3/100 (3%), respectively. Thyroid autoantibody was positive in 13 (13.1%) patients. All patients were iodine sufficient. A trend toward increased neuropathy (r = 0.45) and nephropathy (r = −0.29) was associated with rising TSH. Conclusion: Almost one in four people living with diabetes are suffering from TD. Thus, routine screening should be implemented. Salt iodination program is a huge success in this part of the country.

Background and Objectives: Nonalcoholic fatty liver disease (NAFLD) and dysglycemia are public health challenges. There is urgent need for anthropometric surrogates for NAFLD screening. This study evaluated role of neck circumference (NC) and neck-height ratio (NHtR) as predictors of liver stiffness measure (LSM) in individuals with prediabetes (IPD). Methods: In a cross-sectional study, 188 IPD from 1130 screened individuals underwent anthropometry, ultrasonography, Fibroscan® for LSM, dyslipidemia, insulin resistance (IR), and fetuin-A assessment. Results: Hypertension, hypertriglyceridemia, low high-density lipoprotein cholesterol (HDL-C), metabolic syndrome (MetS), NAFLD, and significant liver stiffness (SLS) (LSM >8.5kPa) were observed in 53.7%, 31.4%, 71.3%, 73.9%, 24.5%, and 11.2% prediabetes individuals, respectively. Prediabetes with NAFLD had significantly higher body mass index (BMI), NC, NHtR, glycated hemoglobin, triglycerides, fatty liver index (FLI), and LSM. Prediabetes in highest NHtR quartile had significantly higher BMI, hypertension, MetS, fasting glucose, glycated hemoglobin, homeostatic model assessment-IR, NAFLD, LSM, SLS, and lower HDL-C. Stepwise forward linear regression revealed that NHtR, FLI, and LDL-C were best predictors of LSM, at baseline (Model-1), after adjusting for age and sex (Model-2), and adjusting model-2 plus systolic and diastolic blood pressure (Model-3). NHtR and NC (in females) and NHtR and BMI (in males) had largest area under the curves for predicting LSM, NAFLD, and MetS. NHtR ≥21.54 cm/m (sensitivity: 90%; specificity: 52.5%; females) and ≥21.62 cm/m (sensitivity: 80%; specificity: 49.4%; males) was best predictor of SLS. Interpretation and Conclusion: NHtR is a reliable tool for community screening of NAFLD and liver stiffness in prediabetes.

Background: High dose oral prednisolone (100 mg/day) in Graves′ orbitopathy (GO) is limited by lesser response, and greater side-effects compared to intravenous (iv) methylprednisolone. Low dose oral prednisolone has not been evaluated in GO. This study aimed to evaluate the safety and efficacy of low dose oral prednisolone in GO. Materials and Methods: A total of 114 consecutive GO patients were screened of which 65 patients with previously untreated moderate-severe GO, clinical activity score (CAS) >2, without co-morbid states were randomized into treatment Group-A (iv methylprednisolone 0.5 g for 3 days/month for 4 months) and Group-B (oral prednisolone 1 mg/kg/day for 6 weeks then tapered stopped), and followed-up. Thirty-one patients in each group with at least 1-year follow-up were analyzed. Responders were defined as improvement in ≥ 1 major response criteria or ≥ 2 minor response criteria. The trial is registered at ctri.nic.in (CTRI/2013/12/004264). Results: At 1-year, 27/31 (87.10%) patients were responders in Group-A compared to 17/31 (54.84%) in Group-B (P = 0.005). There was a greater improvement in CAS score in patients of Group-A as compared to Group-B (P < 0.001). Responders (n = 44) had significantly higher baseline intra-ocular pressures and left eye proptosis as compared to nonresponders. Cox-regression revealed baseline T 4 levels, diplopia, and smoking history were predictive of remission. Low dose prednisolone was well tolerated, and the occurrence of adverse events were comparable in both groups. Conclusions: Low dose oral prednisolone is inferior to iv pulse methylprednisolone in managing GO, having a comparable side-effect profile. It can be a safe second line alternative in patients intolerant to pulse iv methylprednisolone.

Background and Aims: Although Vitamin D deficiency has been linked to autoimmune thyroid disorders (AITD), the impact of Vitamin D supplementation on thyroid autoimmunity is not known. This study aimed to evaluate the impact of Vitamin D supplementation on thyroid autoimmunity (thyroid peroxidase antibody [TPO-Ab] titers) in patients with newly diagnosed AITD in a randomized controlled trial. Materials and Methods: One hundred two patients with newly diagnosed AITD (TPO-Ab > 34 kIU/L and/or sonographic evidence of thyroiditis) patients were randomized into Group-1 (intervention group) and Group-2 (control group). Group-1 received cholecalciferol 60,000 IU weekly and calcium 500 mg/day for 8 weeks; Group-2 received calcium 500 mg/day for 8 weeks. Responders were defined as ≥25% fall in TPO-Ab titers. Individuals with at least 3-month follow-up were analyzed. Trial is registered at ctri.nic.in (CTRI/2015/04/005713). Results: Data from 100 AITD patients (68 with thyroid stimulating hormone [TSH] ≤10 mIU/L, 32 with TSH > 10 mIU/L), 93% having Vitamin D insufficiency, were analyzed. TPO-Ab titers were highest among patients in the lowest 25-hydroxyvitamin D quartile (P = 0.084). At 3 months follow-up, there was significant fall in TPO-Ab in Group-1 (−46.73%) as compared to Group-2 (−16.6%) (P = 0.028). Sixty-eight percentage patients in Group-1 were responders compared to 44% in Group-2 (P = 0.015). Kaplan–Meier analysis revealed significantly higher response rate in Group-1 (P = 0.012). Significantly greater reduction in TPO-Ab titers was observed in AITD with TSH ≤ 10 mIU/L compared to TSH > 10 mIU/L. Cox regression revealed Group-1 followed by TPO-Ab and free tetraiodothyronine levels to be a good predictor of response to therapy (P = 0.042, 0.069, and 0.074, respectively). Conclusion: Vitamin D supplementation in AITD may have a beneficial effect on autoimmunity as evidence by significant reductions in TPO-Ab titers.

Objectives: To note the value of serum Vitamin B12, folic acid, and ferritin in normal and high-risk pregnancies (HRPs) in patients attending antenatal clinic at All India Institute of Medical Sciences (AIIMS). Materials and Methods: This is a cross-sectional study where a total of 282 patients attending Gynaecology Outpatient Department at AIIMS, New Delhi, India were recruited. Among the 282 subjects, 251 were pregnant, and 31 were controls. The serum was tested for serum Vitamin B12, serum folic acid, and serum ferritin levels using Beckman Coulter Access 2 immunoassay. Results: The median value of serum folic acid level in pregnant women was 12 pg/ml with range being 2–20 pg/ml in contrast to 8 pg/ml with range being 3–20 pg/ml in nonpregnant female. This difference was statistically significant. (P = 0.05). There was no significant difference in the median level of serum Vitamin B12 and serum ferritin in pregnant and nonpregnant group. Serum Vitamin B12 level was lower in the third trimester (127 pg/ml) than in first trimester (171 pg/ml) and the difference is statistically significant (P = 0.03). Serum ferritin levels were also significantly lower in the second trimester (16.4 pg/ml) than third trimester (24.55 pg/ml). Although the median serum folic acid level was lower in the first trimester (9.84 pg/ml) than in second trimester (10.8 pg/ml) and in the third trimester (13.18 pg/ml) but the difference was not statistically significant. There was no significant difference in Vitamin B12 level in HRPs (median value 134 pg/ml) as compared to low-risk pregnancies (149.5 pg/ml). Conclusion: Serum folic acid levels are significantly higher during pregnancy as compared to nonpregnant state. However, there was no significant difference in the median level of serum Vitamin B12 and serum ferritin in pregnant and nonpregnant group. Serum folic acid level and ferritin level were significantly higher in HRPs compared to low-risk pregnancies.

Background and Aims: The predictive potential of neck circumference (NC) based indices (a measure of upper body fat distribution) for predicting metabolic syndrome (MetS) and its components among Indians is not known. This study aimed to evaluate the role of NC and neck height ratio (NHtR) as independent predictors of MetS and its components as compared to traditional anthropometric indices. Materials and Methods: A total of 451 individuals from 867 screened individuals, 30–80 years age, without any co-morbid state who gave informed written consent underwent clinical, anthropometric, and biochemical assessment. Results: Patients with MetS in both the sexes had significantly higher NC, NHtR, glycated hemoglobin, fasting glucose, and dyslipidemia (higher triglycerides, total cholesterol/high-density lipoprotein cholesterol (HDL-C) ratio, low-density lipoprotein cholesterol/HDL-C ratio, and lower HDL-C). In both sexes, individuals in the highest tertile of NC had significantly greater central and generalized obesity, lower HDL-C, and significantly higher MetS. Receiver operating characteristic analysis revealed waist circumference (WC) to have the largest area under the curve for predicting MetS in both sexes, followed by NHtR, NC, and body mass index. NC and NHtR of >34.9 cm (sensitivity 78.6%; specificity 59.3%) and >21.17 cm/m (sensitivity 80.7% and specificity 64.6%) respectively for men and >31.25 cm (sensitivity 72.3%; specificity 64.4%) and >20.48 cm/m (sensitivity 80.4% and specificity 60%) respectively for women were the best values for identifying MetS. Increased NC and NHtR had odds ratio of 1.52 (95% confidence interval [CI]: 1.37–1.68; P< 0.001) and 1.96 (95% CI: 1.67–2.29; P< 0.001) respectively in identifying MetS. Conclusion: NC and NHtR are good predictors of MetS and cardiovascular risk factors in Asian Indians. NHtR is reliable and perhaps an even better index than NC with regards to cardiovascular risk prediction.

Objectives: To note the value of serum parathyroid hormone (PTH) levels in normal and high-risk pregnancies (HRP) in patients attending antenatal visits at All India Institute of Medical Sciences (AIIMS). Materials and Methods: This is a cross-sectional study where a total of 282 patients attending Gynecology Outpatient Department at AIIMS, New Delhi were recruited. Among the 282 subjects, 251 were pregnant, and 31 were controls. The serum was tested for serum PTH levels using Beckman coulter access 2 immunoassay. Results: The median value of PTH level in pregnant women was 31.6 pg/ml with range being 0.8–505.5 pg/ml in contrast to 45.9 pg/ml with range being 19–102.7 pg/ml in nonpregnant female. This difference was statistically significant ( P = 0.0012). There was no significant difference in median level of PTH in different age group. Although the median PTH levels were lower in second trimester (25.25 pg/ml) than in first trimester (35.5 pg/ml) and in third trimester (32.4 pg/ml), the difference was not statistically significant. There was no significant difference in PTH level in HRP (median value – 31.6 pg/ml) as compared to low-risk pregnancies (31.5 pg/ml). Conclusion: Serum PTH levels are significantly lower during pregnancy as compared to nonpregnant state. However, age, parity, and HRP did not alter PTH level during pregnancy.

Emphysematous pyelonephritis (EPN) is a life-threatening condition most commonly observed in diabetes, with nephrectomy believed to be the treatment of choice. However, nephrectomy in EPN is associated with increased risk of complications secondary to associated hemodynamic instability and may result in lifelong hemodialysis in case of bilateral EPN. We present three patients of severe bilateral EPN and one patient of unilateral EPN with diabetic ketoacidosis (DKA) successfully managed conservatively. Patient 1 (severe bilateral EPN) and patient 4 (unilateral EPN with DKA) responded to aggressive broad spectrum antibiotics, whereas patients 2 and 3 (severe bilateral EPN) responded to broad spectrum antibiotics along with percutaneous catheter drainage (PCD). PCD resulted in initial drainage of 300 and 200 ml of pus, respectively. All patients had associated uncontrolled hyperglycemia, poor glycemic control (HbA1c >8.5%), prerenal and intrinsic renal failure, leukocytosis, and dyselectrolytemia which responded to aggressive supportive management and insulin. There are several reports of successful medical management of severe bilateral EPN. Nephrectomy might no longer be the preferred treatment of severe bilateral EPN and may be reserved for patients′ refractory to antibiotics and PCD. Urgent randomized controlled trials are warranted in EPN to optimize the treatment protocols.

Managing precocious puberty (PP) has been a challenge due to lack of standardized definition, gonadotrophins assay, gonadotrophin stimulation, timings for blood sampling, and parameters for assessing outcomes. This review evaluated available literature to simplify the algorithm for managing gonadotrophin dependent/central PP (CPP), with an Indian perspective. CPP is one of the commonest forms of PP and mimics the normal course of puberty, at an age 3.5 cm and uterine volume of >1.8 ml are two most specific indicators for true CPP. Therapy is indicated in children with CPP with accelerated bone age, height advancement, or psychosocial stress. Treatment goal is to halt puberty progression to a socially acceptable age, allowing the child to attain optimal height potential. GnRHa is the treatment of choice, with best height outcomes when initiated

Aims: Percutaneous aspiration and ethanol injection (PEI) is effective in managing predominantly cystic (>50% cystic) thyroid nodules with efficacy ranging from 38-85%. We aimed to evaluate efficacy, safety, and factors determining outcomes of PEI in managing simple cystic (purely cystic) vs. complex cystic (having both cystic and solid components) thyroid nodules. Materials and Methods: Predominantly cystic thyroid nodules, without any ultrasonography and/or fine needle aspiration, evidence of malignancy were aspirated ultrasonography guided. Sterile 100% ethanol (50-100% volume aspirated) was injected and reviewed monthly for 3 months and thereafter 3 monthly. Responders were defined as ≥ 50% reduction in nodule volume. Results: Sixty-five patients out of 152 considered underwent PEI. Sixty patients [simple cystic (42) and complex cystic (18)] with mean follow-up of 12.3 ± 2.88 months were analyzed. Response rate of PEI was 78.33% [simple cystic (92.86%) and complex cystic (44.44%) nodules; P < 0.001]. Also, 31.67% patients achieved remission at 1 st month. And, 46.67% patients achieved remission between 1-6-months follow-up. Kaplan Meier analysis showed significantly improved outcomes in patients with simple cystic nodules (P < 0.001). Cox-regression revealed type of nodule (simple cystic vs. complex cystic) to be predictive of outcome (P = 0.034). Complex cystic nodules were 67.6% less likely to go into remission, compared to simple cystic nodules. Baseline nodule size, aspirate, or volume of ethanol injected did not predict outcome. Conclusions: PEI is safe and should be treatment of choice for simple cystic thyroid nodules. PEI for complex cystic thyroid nodules are associated with lower response, increased recurrence, and need for repeated PEI.

Rathke′s cleft cysts (RCC) are cystic sellar and suprasellar lesions derived from remnants of Rathke′s pouch, lined by cuboidal or columnar epithelium. RCC are usually asymptomatic but can present with headache, visual impairment, panhypopituitarism and hypothalamic dysfunction. Diabetes Insipidus as a presenting symptom of RCC is reported, but rare. We present a case of a 48-year-old male presenting with polyuria and on investigations found to have central diabetes insipidus due to a sellar RCC. Patient underwent transsphenoidal surgery with complete excision with resolution of his symptoms. His polyuria resolved post-surgery without vasopressin replacement, which has never been reported.

Infectious diseases of the central nervous system (CNS) are increasingly being recognized as important causes of hypopituitarism. Although tuberculosis is the most common agent involved, non-mycobacterial agents like viruses, bacteria, fungus, and protozoa are important causes in our country. Involvement post infections could be due to a strategically located tuberculoma, or pituitary abscess, or meningoencephalitis. Although it might not be reasonable to screen all patients with CNS infections for hypopituitarism, awareness of the possibility and clinical follow-up for suggestive symptoms is required.

Background: The A 1 chieve, a multicentric (28 countries), 24-week, non-interventional study evaluated the safety and effectiveness of insulin detemir, biphasic insulin aspart and insulin aspart in people with T2DM (n = 66,726) in routine clinical care across four continents. Materials and Methods: Data was collected at baseline, 12 weeks and at 24 weeks. This short communication presents the results for patients enrolled from West Bengal, India. Results: A total of 1133 patients were enrolled in the study. Four different insulin analogue regimens were used in the study. Patients had started on or were switched to biphasic insulin aspart (n = 897), insulin detemir (n = 94), insulin aspart (n = 90), basal insulin plus insulin aspart (n = 28) and other insulin combinations (n = 19). At baseline glycaemic control was poor for both insulin naïve (mean HbA 1 c: 8.5%) and insulin user (mean HbA 1 c: 8.9%) groups. After 24 weeks of treatment, both the study groups showed improvement in HbA 1 c (insulin naïve: −1.3%, insulin users: −1.6%). SADRs including major hypoglycaemic events or episodes did not occur in any of the study patients. Conclusion: Starting or switching to insulin analogues was associated with improvement in glycaemic control with a low rate of hypoglycaemia.

Ectopic neurohypophysis (EN) is found in nearly half of children with growth hormone deficiency (GHD). Rathke′s cyst (RC) is uncommon in children and when present, hypopituitarism is found in nearly half of them. We present a fourteen and half-year-old girl with severe short stature and delayed puberty who on evaluation was found to have GHD, secondary hypocortisolism, and hypogonadism. Imaging revealed hypoplastic anterior pituitary, stalk agenesis, EN at tuber cinereum and intrapituitary RC. This is perhaps the first report of simultaneous occurrence of EN and RC, which was seen in a girl with multiple pituitary hormone deficiency. A primary defect in pituitary development may explain this simultaneous occurrence of EN and RC and hence this severe anterior pituitary function deficit.

Asymptomatic reversible pituitary hyperplasia is common in patients with untreated primary hypothyroidism. Occurrence of empty sella (ES) in this scenario is extremely rare (only three reports till the date) and panhypopituitarism has not been reported in such patients. We report a 27 year man with severe short stature (height-133 cm; standard deviation score-7.36) and delayed puberty who had symptoms suggestive of hypothyroidism along with chronic persistent headache since 6 years of age. Pituitary imaging done for headache at 11 years age showed pituitary hyperplasia. He was diagnosed of primary hypothyroidism for the 1 st time at 21 year age, a diagnosis which was likely missed for 15 years. Levothyroxine therapy leads to resolution of all symptoms and a height gain of 28 cm over last 6 years. Evaluation for lack of progression of puberty along with chronic nausea, vomiting, fatigue and weight loss for the last 1 year revealed secondary hypocortisolism (9 am cortisol-4.8 mcg/dl; ACTH-3.2 pg/ml), growth hormone deficiency (IGF-1: 65 ng/ml; normal: 117-325 ng/ml) and hypogonadotrophic hypogonadism (9 am testosterone: 98 ng/dl; [280-1500] LH-0.01 mIU/L [1.14-5.75]) with ES on magnetic resonance imaging (MRI) brain. Uncontrolled thyrotroph hyperplasia due to chronic untreated primary hypothyroidism for 15 years may have been damaging the adjacent corticotrophs, somatotrophs and gonadotrophs resulting in panhypopituitarism and empty sella. This is perhaps the first report of panhypopituitarism with empty sella syndrome developing in a patient with pituitary hyperplasia, a sequel of chronic untreated primary hypothyroidism.

South Asia is home to one of the largest population of people with metabolic syndrome (MetS). The prevalence of MetS in South Asians varies according to region, extent of urbanization, lifestyle patterns, and socioeconomic/cultural factors. Recent data show that about one-third of the urban population in large cities in India has the MetS. All classical risk factors comprising the MetS are prevalent in Asian Indians residing in India. The higher risk in this ethnic population necessitated a lowering of the cut-off values of the risk factors to identify and intervene for the MetS to prevent diabetes and cardiovascular disease. Some pharmacological and nonpharmacological interventions are underway in MetS to assess the efficacy in preventing the diabetes and cardiovascular disease in this ethnic population.

Leptin therapy in human recombinant form has recently been used in HIV-associated lipodystrophy syndrome on experimental basis in some small short-term clinical trials. It has shown its beneficial effects only in hypoleptinemic HIV-infected patients by causing definite improvement in their insulin sensitivity, glucose tolerance, lipid status, and truncal obesity. Leptin prevents lipotoxicity and activates insulin signaling pathways through several postulated mechanisms. Central leptin insufficiency with peripheral hyperleptinemia has come out to be a significant contributor to the development of obesity and metabolic syndrome. In this article, we will review the basis of leptin therapy in HIV patients, with its promises. However, further larger clinical trials are needed to prove its long-term efficacy in the control of metabolic complications related to HIV therapy.

Leptin, a product of Ob gene from adipocytes regulates appetite, energy expenditure and body mass composition by decreasing orexigenic and increasing anorexigenic neuropeptide release from hypothalamus. Research over the past few years have suggested leptin/leptin receptor dysregulation to have a role in the development of a large variety of malignancies like breast ca, thyroid ca, endometrial ca and gastrointestinal malignancies, predominantly through JAK/STAT pathway which modulates PI3K/AKT3 signaling, ERK1/2 signaling, expression of antiapoptotic proteins (like XIAP), systemic inflammation (TNF-α, IL6), angiogenic factors (VEGF) and hypoxia inducible factor-1a (HIF-1a) expression. In this review, the current understanding of leptin′s role in carcinogenesis has been elaborated. Also a few agents modulating leptin signaling to inhibit cancer cell growth has been described.

Human immunodeficiency virus (HIV) endocrinopathy encompasses a broad spectrum of disorders. Almost all the endocrine organs are virtually affected by HIV infection. HIV can directly alter glandular function. More commonly secondary endocrine dysfunction occurs due to opportunistic infections and neoplasms in immunocompromised state. The complex interaction between HIV infection and endocrine system may be manifested as subtle biochemical and hormonal perturbation to overt glandular failure. Antiretroviral therapy as well as other essential medications often result in adverse endocrinal consequences. Apart from adrenal insufficiency, hypogonadism, diabetes and bone loss, AIDS wasting syndrome and HIV lipodystrophy need special reference. Endocrinal evaluation should proceed as in other patients with suspected endocrine dysfunction. Available treatment options have been shown to improve quality of life and long-term mortality in AIDS patients.

Natriuretic peptides (NPs) are hormones which are mainly secreted from heart and have important natriuretic and kaliuretic properties. There are four different groups NPs identified till date [atrial natriuretic peptide (ANP), B-type natriuretic peptide (BNP), C-type natriuretic peptide (CNP) and dendroaspis natriuretic peptide, a D-type natriuretic peptide (DNP)], each with its own characteristic functions. The N-terminal part of the prohormone of BNP, NT-proBNP, is secreted alongside BNP and has been documented to have important diagnostic value in heart failure. NPs or their fragments have been subjected to scientific observation for their diagnostic value and this has yielded important epidemiological data for interpretation. However, little progress has been made in harnessing the therapeutic potential of these cardiac hormones.

Idiopathic Hypogonadotropic hypogonadism (IHH) phenotype is variable & various genes have been decribed in association with IHH.We describe association of IHH with mosaic trisomy 13. A 20 year old male presented with lack of development of secondary sexual characters, normal height, micropenis, small testes, gynaecomastia, absence of axillary and pubic hairs, hyposmia,synkinesis, bilateral horizontal nystagmus and high arched palate. Investigations showed low gonadotropin,low total testosterone, LH after stimulation with 100 mcg tryptorelin sc was 11.42 mU/mL at 40 min. MRI of hypothalamo-pituitary region showed normal olfactory bulb and tract but shallow olfactory sulcus . Karyotype showed homologous Robertsonian translocation of chromosome 13. This case fits classical IHH except for LH rise on stimulation.Features of Patau syndrome which is associated with trisomy 13 are absent in our case. Mosaic trisomy 13, which can otherwise be rare incidental finding , has not been described in association with IHH.Causal association of novel mutation on chromosome 13 leading to aforementioned phenotype cannot be rule out.

Juvenile primary hypothyroidism causing cystic ovaries and pseudoprecocious puberty (Van-Wyk Grumbach syndrome (VWGS)) is well documented in literature. There are only a few reports of primary hypothyroidism presenting as ovarian cysts in adults. Here we present a case of huge bilateral ovarian cysts in adulthood as the presenting feature of VWGS due to chronic uncontrolled juvenile hypothyroidism. Large uniloculor right ovarian cyst (119 × 81 × 90 mm) and a multicystic left ovary (55 × 45 × 49 mm) were detected in a 24 year lady with secondary amenorrhea, galactorrhea, and palpable abdominal mass with history of neonatal jaundice, delayed milestones, short stature, and precocious menarche at age of 7.5 years age. She had elevated levels of cancer antigen (CA)-125 which normalized post levothyroxine supplementation. Elevated CA-125 may lead to misdiagnosis of ovarian carcinoma and inadvertent treatment. Bilateral ovarian cysts in adults are a rare presentation of juvenile hypothyroidism. It is necessary to screen for primary hypothyroidism in patients presenting with bilateral ovarian cysts to prevent unnecessary evaluation and treatment.

Macroprolactinoma are rare in childhood, especially in the first decade. A 9-year-old girl presented with headache, vomiting, and decreased vision for 8 months. A diagnosis of macroprolactinoma was made following documentation of elevated serum prolactin (958 ng/ml) with a contrast enhancing macroadenoma (30 × 27 × 28 mm) on magnetic resonance imaging of pituitary. Anterior pituitary function was normal. Cabergoline therapy resulted in resolution of all symptoms in 2-8 months. Revaluation at 10 months of cabergoline therapy revealed normal serum prolactin (14 ng/ml), normal pituitary function, with 91% decrease in adenoma size (11.5 × 13.6 × 12.7 mm). Evaluation at 36 months of cabergoline therapy for growth arrest and weight gain for past 6 months revealed low serum prolactin, growth hormone deficiency, and secondary hypothyroidism with empty sella. She had biochemical as well as structural resolution of prolactinoma. This report highlights the development of multiple pituitary hormone deficiency with empty sella, an uncommon side effect of cabergoline therapy for macroprolactinoma.

A 16-year-old person, reared as female presented with complaints of genital ambiguity and primary amenorrhoea along with lack of secondary sexual characters, but without short stature and Turner′s stigmata. She was taking steroids after being misdiagnosed as congenital adrenal hyperplasia (CAH). Karyotype analysis revealed 46XY karyotype. There was no evidence of hypocortisolemia (cortisol 9.08 μg/dl, adrenocorticotropic hormone [ACTH] 82.5 pg/ml) or elevated level of 17-OH-progesterone (0.16 ng/ml). Pooled luteinizing hormone (LH) was 11.79 mIU/ml and follicle-stimulating hormone (FSH) was 66.37 mIU/ml. Serum estradiol level was 25 pg/ml (21-251). Basal and 72 h post beta-human chorionic gonadotropin (hCG) levels of androstenedione and testosterone levels were done (basal testosterone of 652 ng/dl and basal androstenedione of 1.17 ng/ml; 72 h post hCG testosterone of 896 ng/dl and androstenedione of 1.34 ng/ml). Magnetic resonance imaging (MRI) pelvis (with ultrasonogrphy [USG] correlation) revealed uterus didelphys with obstructed right moiety and bilateral ovarian-like structures. Right sided gonads and adjacent tubal structures were visualized laparoscopically and removed. Left sided gonads were not visualized and Mullerian remnants were adhered to sigmoid colon. Histopathological examination revealed presence of testicular tissue showing atrophic seminiferous tubules with hyperplasia of Leydig cells. No ovarian tissue was seen. Based on these results a diagnosis of 46XY mixed gonadal dysgenesis (MGD) was made, which is rare and is difficult to distinguish from 46XY ovotesticular disorder of sexual differentiation (OT-DSD). The patient was managed with a multidisciplinary approach and fertility issues discussed with the patient′s caregivers.

Germ cell tumors may lead to incomplete isosexual male precocity and are commonly located in the pineal gland. Germinomas of the basal ganglia are almost always unilateral and precocious puberty is a rare manifestation in them. We report a 9.5-year-old boy who presented with incomplete isosexual precocity due to bilateral basal ganglia germinoma.

Thyroid associated orbitopathy, although seen most commonly with thyrotoxicosis, is also known to occur in primary hypothyroidism. Myasthenia gravis is an autoimmune condition with an established association with autoimmune thyroid disease. We report the case of a patient who presented with recent onset unilateral ptosis that was fatigable with a history of proptosis since a year. On examination, she had a goiter, bilateral proptosis, restriction of upward gaze and adduction both eyes and normal pupils. Investigations revealed primary hypothyroidism with anti-thyroid peroxidase positive and anti-acetylcholine receptor antibody positive. Computerized tomography orbit showed thickening of medial and inferior rectus characteristic of thyroid orbitopathy. A diagnosis of primary hypothyroidism with thyroid orbitopathy with ocular myasthenia gravis was made. Patient is on Levothyroxine and anticholinesterase medications and is on follow-up. We present this case to highlight that the presence of ptosis in a patient with thyroid orbitopathy should alert the clinician to the possible coexistence of myasthenia gravis.

A 72-year-old man presented with palpitation, dyspnea, and chest discomfort. Initial investigations revealed atrial fibrillation (AF) and pericardial effusion, further investigations unraveled primary hypothyroidism (thyroid stimulating hormone) of 34.7 μIU/ml and total thyroxine (T4) of 5.57 μg/dl). Treatment with levothyroxine led to resolution of symptoms, AF, and pericardial effusion.

Hypoparathyroidism is most commonly isolated and idiopathic. Hypoparathyroidism in autoimmune polyendocrine syndrome type-2 (APS-2) is extremely rare with few isolated reports and usually presents late. We present perhaps for the first time, hypoparathyroidism being the initial manifestation of APS-2 which was diagnosed in a 32 year lady with tingling of the extremities along with hypocalcemic tetany for 15 years. She also had generalized acral and mucosal hyperpigmentation of 2 years duration. Investigations were significant for low calcium (7.1mg/dl), elevated phosphorus (4.8mg/dl), vitamin-D insufficiency (27.4ng/ml), low intact parathyroid hormone (2.3pg/ml), low basal (4.7mcg/dl) and stimulated serum cortisol (9.2mcg/dl at half hour, 11.4mcg/dl at 1 hour post synacthen), elevated triiodothyronine (2.1ng/ml) and free tetraiodothyronine (2.4ng/dl) along with suppressed TSH (

Renal tubular disorders are an important cause of refractory rickets. Wilson′s disease, an inherited disorder of copper metabolism has varied presentations. We present a case of refractory rickets due to Fanconi′s syndrome attributable to Wilson′s disease. An adolescent girl presented with pain in the hip and knee joints and a knock-knee deformity since six years. She had received multiple doses of cholecalciferol with little improvement. There was no history of seizures, polyuria, jaundice, intake of drugs, or similar complaints in the family. Examination revealed a severely short stature with widening of the wrist joint and genu valgum. Examination of the central nervous system (CNS) was normal. Skeletal radiographs showed features suggestive of rickets at the hip and knee joints. Routine biochemistry was normal, 25-hydroxyvitamin D [25(OH)D] was adequate (57.1 ng/dL), with normal corrected calcium (9.24 mg/dL), low phosphate (2.76 mg/dL), elevated bone-specific alkaline phosphatase, and normal renal functions. Twenty-four-hour urine revealed phosphaturia, kaliuresis, and glucosuria with normal blood sugars and aminoaciduria. Blood gas analysis revealed normal anion gap metabolic acidosis with a urine pH of 7. Ammonium chloride (NH 4 CL) challenge test revealed proximal tubular acidosis. A search for causes revealed Kayser-Fleischer rings. The diagnosis of Wilson′s disease was confirmed by low serum ceruloplasmin levels (6.5 mg/dL; normal: 18-35 mg/dL) with high 24-hour urine copper levels (433 mcg; normal: 20-50 mcg). She was started on a replacement of alkali, phosphate, calcium, and vitamin D, with zinc acetate for Wilson′s disease. Rickets as a presenting feature of Wilson′s disease has been reported rarely. Recognition of this entity is important, as treatment of the primary condition may improve tubular function as well.

Background: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by glucocorticoid deficiency, high ACTH levels and normal mineralocorticoid levels. FGD is caused due to defects in adrenocorticotropic hormone (ACTH) signaling. The defect can be caused by mutations in genes encoding the ACTH receptor (melanocortin 2 receptor) or its accessory protein. Patients: Here we report three siblings with FGD. The second in order of siblings presented at an age of 15 years with history of diffuse hyperpigmentation since childhood. Their parents were non consanguineous. The patients were hyperpigmented and taller compared with their parents. None of the siblings had ambiguous genitalia or neurological abnormalities. There was no history of tuberculosis in the family. Biochemical investigations revealed low serum cortisol (1250 pg/ml). Serum electrolytes, aldosterone, and plasma renin activity was normal. Based on the above mentioned data, a provisional diagnosis of FGD was made after ruling out the common causes of glucocorticoid deficiency. Conclusion: FGD is a rare autosomal recessive disorder which causes isolated glucocorticoid deficiency. Unawareness about the condition may lead to delayed diagnosis and treatment, which are associated with high rates of morbidity and mortality. Once a diagnosis is made it is easily treatable.

Introduction: The association of anemia with primary hypothyroidism has been common knowledge for many years. However; its pathogenesis is far from clear in many cases. Often the causes of anemia are manifold. Aims and objectives: In this study, we evaluated the causes of anemia in patients with primary hypothyroidism. Materials and Methods : Sixty adult nonpregnant untreated primary hypothyroid patients with anemia without any obvious cause were included. All patients were subjected to full medical history, clinical examination, biochemical and imaging studies. Serum iron profile, vitamin B12, folic acid, anti parietal cell antibody, anti TPO antibody, bone marrow study, and stool for occult blood, Coomb′s test, HPLC for hemoglobinopathies and complete hemogram with reticulocyte count were done and analyzed. Results: Normocytic, normochromic anemia was present in 31 patients (51.6%) followed by microcytic anemia in 26 patients (43.3%). Six patients (10%) had megaloblastic anemia with vitamin B12 deficiency including 3 cases of pernicious anemia. Two patients had combined deficiency of iron and vitamin B12. Conclusion: Normocytic normochromic anemia with normal bone marrow was commonest type of anemia in this study, followed by iron deficiency anemia.

Hypoparathyroidism in systemic sclerosis is extremely rare with only a single case reported till date. Idiopathic hypoparathyroidism with systemic sclerosis was diagnosed in a 59-year-old gentleman who had presented with recurrent seizures, instability of gait, skin thickening and tightening over both legs and forearms, and arthritis. Examination was significant for positive Trousseau sign and cerebellar ataxia. Evaluation revealed bilateral symmetrical cerebellar and basal ganglia calcification, sensorineural deafness, low serum calcium, elevated serum phosphorus, normal magnesium, normal vitamin D, low plasma parathyroid hormone, high titer of thyroid peroxidase antibody, positive centromere pattern antinuclear antibody, strongly positive anti-topoisomerase-1 (Scl-70) antibody, nonvisualization of parathyroids on neck ultrasonography and skin biopsy suggestive of hyperkeratosis, increased collagen in dermis, and perivascular lymphomononuclear cell infiltration compatible with scleroderma. Last evaluated 10 months after the diagnosis, his ataxia had improved, he remained seizure-free, Trousseau sign was negative, and he had low-normal calcium calcium with calcium carbonate and calcitriol supplementation and switch from phenytoin to valproate. Further studies are warranted to study the use of serum calcium as a screening test for hypoparathyroidism in patients with systemic sclerosis.

Adrenal myelolipoma is a benign metaplastic collection of reticuloendothelial cells and adipose tissue, believed to be secondary to chronic stimulation of the adrenals. Keratoconus is the most common corneal ectasia of unknown pathogenesis. Altered expression of proteinases, proteinases inhibitors, and cytokines are believed to have a role. We report for the first time, the occurrence of adrenal myelolipoma in a 52-year-old man with bilateral keratoconus with right corneal scarring for 13 years, who had presented with abdominal pain and heaviness for 4 weeks. Computerized tomography abdomen revealed 7.4 × 7.0 × 6.6 cm hypo-dense variegated left adrenal mass [-71 to -51 Hounsfield Unit (HU)] with smooth borders and poor contrast uptake, suggestive of adrenal myelolipoma, which was biochemically non-functional in view of normal overnight dexamethasone suppressed cortisol (1.4 mcg/dl), 24 h urinary fractionated metanephrines [metanephrines 57 mcg/day (53-341); normetanephrines 95 mcg/day (88-444)], androgen levels [dehydroepiandrostenedione-sulphate 112 mcg/dl (21-123); testosterone 542 ng/dl (275-1200)] with normal visualization of the contralateral adrenal. The cause of this association could not be determined. However, it may be hypothesized that altered adrenal steroid metabolism may have some role in the development of myelolipoma in our patient with keratoconus; in view of increased occurrence of myelolipoma in patients with congenital adrenal hyperplasia (CAH), isolated report of keratoconus in twins with CAH and mice model of keratoconus demonstrating the role of androgens in the development of keratoconus.