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Aims: Available literature on the prevalence of Charcot arthropathy (CA) represents mainly Western population. No study has been reported from India so far. Hence we attempted to study the prevalence of CA in patients with type 2 diabetes mellitus and severe peripheral neuropathy (T2DMPN), belonging to Indian population amongst whom type 2 diabetes is on the rise in alarming proportions. Materials and Methods: Medical records of 3387 patients who performed an objective vibration perception threshold test during the year 2015 were screened for T2DMPN. Out of these, 1475 T2DMPN patients above 50 years were selected and analyzed in detail for CA. CA was diagnosed based on clinical features and/or radiological investigations. The anatomical localization of the disease distribution of the affected foot was done according to Brodsky's classification. Results: The prevalence of CA in T2DMPN patients was found to be 9.8%. The mean age of patients diagnosed with CA was 63 ± 8.36 years, and mean duration of DM for CA to develop was 18.01 ± 8.23 years. About 62.5% of the patients were male and 37.5% female. Bilateral presentation of CA was observed in 20.8% of patients. Multiple sites of the foot were affected in 48.6% of patients and belonged to type 4 classification of Brodsky. Conclusions: A high prevalence of CA (9.8%) was observed in the present study conducted on T2DMPN patients who presented to the endocrinology department of a tertiary care South Indian hospital. In the majority of patients, the area of foot affected belonged to type 4 classification of Brodsky.

Background: Congenital hypothyroidism (CH) is the most common cause of preventable intellectual disability. Newborn screening (NBS) for CH has been in vogue in many parts of the world since 1970, but despite its well-known benefits, many developing countries including India have not been able to establish universal NBS for CH till date., Objective: The aim of this study was to review the clinical aspects of congenital hypothyroidism in a tertiary care university referral teaching hospital, focusing on aetiology of CH, predictors of permanence, optimal targeted dose strategies based on aetiology and the effect of newborn screening on the time to diagnosis., Material and Methods: The electronic medical records of 233 children with CH referred to our centre between January 2009 and December 2019 were analysed. A partial NBS was established in the state in 2012., Results: Dyshormonogenesis (57.5%) was the most common aetiology of CH. The incidence of transient CH in children with a gland in situ (GIS) was 35%. Levothyroxine (LT-4) dose of >2.75 μg/kg/day (sensitivity 76.5, specificity 72), >2.15 μg/kg/day (sensitivity 82.4, specificity 61.9) and >1.85 μg/kg/day (sensitivity 76.5, specificity 61.9) at years 1, 2 and 3, respectively, were predictors of permanent CH. An initial LT-4 dose ≥8 μg/kg was sufficient and very seldom led to undertreatment in children with dyshormonogenesis. On the contrary, even doses ≥13 mcg/kg/day led to frequent undertreatment in children with thyroid dysgenesis. After the introduction of newborn screening, the median age at diagnosis came down from 45 days (IQR 14-180 days) to ten days (IQR 3-12 days)., Conclusion: Targeted dosing based on aetiology of CH may be more appropriate to optimise outcomes. The time to diagnosis of CH reduced significantly after the adoption of even a partial NBS program highlighting the urgent need for implementation of the same in resource poor settings., Competing Interests: There are no conflicts of interest., (Copyright: © 2023 Indian Journal of Endocrinology and Metabolism.)

Introduction: Differentiated thyroid carcinoma/cancer (DTC) burden in developing countries could be different from that of the developed nations., Aims and Objectives: To describe the clinicopathological characteristics in a cohort of DTC patients in a south Indian state of Kerala and to compare with the data from other centres., Materials and Methods: A retrospective analysis of the data collected on DTC patients, from January 2010 to August 2018, attending thyroid cancer clinic at a tertiary care centre., Results: mong the 944 patients (male 262; female 682; mean age 43.8 years; standard deviation, SD 13.8), types of tumour were as follows: classical papillary thyroid carcinoma (cPTC) 48.3%, follicular variants of PTC (FVPTC) 28.8%, follicular and hurthle cell carcinoma (FTC&HCC) 10.1%. Mean size of the tumour was 2.7 cm (SD 1.8) papillary thyroid micro carcinomas (PTMC) were seen in 113 patients (12%), which were detected incidentally. Metastases were present at diagnosis in 40.2% cases, most common site being cervical lymph nodes. Distant metastases were seen in 113 patients (14.5%) and commonest site was bone. The American Thyroid Association (ATA) risk stratification was possible only in 684 subjects and showed 31.3% low risk, 41.8% intermediate risk and 26.9% at high-risk category. Lymph node metastasis and distant metastasis were the commonest determining factors for intermediate and high-risk category, respectively. High-risk category was significantly higher in patients >55 years, tumour size >4 cm, FTC/HCC tumour type and extranodal extension (ENE) of lymph node metastasis. Radio active iodine ablation was given to 85.2% subjects., Conclusion: In our DTC population, FVPTC formed the second most common type and PTMC were all incidentalomas. Metastasis at diagnosis was higher suggesting delayed presentation. Old age, FTC/HCC, large size of the tumour, ENE were significantly higher in high-risk patients. Rest of the features of these cohort was comparable with the United States cohort of DTC patients., Competing Interests: There are no conflicts of interest, (Copyright: © 2022 Indian Journal of Endocrinology and Metabolism.)

Context: Medullary thyroid carcinoma (MTC), being an aggressive disease, requires meticulous follow-up and multidisciplinary management. The clinical presentation, management, outcome of MTC varies among different populations., Aims: An audit was conducted to evaluate the demography, clinical presentation, management, and outcome of MTC in a tertiary care center in South India., Settings and Design: A retrospective analysis was conducted of data from hospital records of patients with MTC treated at our center from 2004 to 2019., Statistical Analysis: All analyses were performed with SPSS software (version 16)., Results: Among the 82 patients (M 42, F 40), mean age was 42.07 years (SD 14.5), 46 were operated at our center and 36, outside. Follow-up data were not available for all patients. Median duration of the disease was 36 months and median follow-up was 28 months. Lymphnode dissection was more common (37/46) in patients operated at our center than outside operated patients (17/36) ( P < 0.01). At presentation, more than half of the patients had stage IV disease and 8 had distant metastases. Bone, lung, and liver were the common sites of metastases. Persistent hypercalcitoninemia >50 pg/mL was seen in 49.9%. Salvage surgeries of the neck were necessary in 29 patients (38.2%). Mean survival was 66 months and 10-year survival was 35%. Male gender ( P = 0.008) and Stage IV disease at presentation ( P = 0.038) were associated with poorer survival., Conclusion: MTC, in our population, presented at an advanced stage. Male gender and stage IV at presentation had poor survival. Early diagnosis, aggressive initial neck clearance, close follow-up with tumor markers, appropriate imaging, along with prompt surgical intervention will help to improve outcome., Competing Interests: There are no conflicts of interest., (Copyright: © 2020 Indian Journal of Endocrinology and Metabolism.)

Background and Aims: Liver transplantation has become an effective therapy for patients with end-stage liver disease. The risk of new-onset diabetes after transplantation (NODAT) and posttransplant metabolic syndrome (PTMS) is high among patients after liver transplantation. These are thought to be associated with increased risks of graft rejection, infection, cardiovascular disease, and death. Our study aimed to document the incidence of NODAT and PTMS and analyze pre and posttransplant predictive factors for their development in patients undergoing a liver transplant., Methods: This was a prospective comparative study on 51 patients who underwent live donor liver transplantation. They were evaluated at baseline, 3 and 6 months after transplantation with fasting glucose, lipids, serum insulin levels, C-peptide, and HbA1C. They were followed up at 5 years to document any cardiovascular events or rejection., Results: The incidence of preoperative diabetes mellitus (DM) in the study group was 25/51 (49%). The incidence of NODAT was 38.5% (10/26 patients) and PTMS 29% (10/35), respectively. Age (47.7 ± 5.4 vs 41.5 ± 12.7 years), HOMA2 - IR (2.3 ± 1.8 vs 2.1 ± 1.6), serum insulin (16.1 ± 12.0 vs 17.9 ± 14.5), and C-peptide (4.6 ± 0.5 vs 4.8 ± 0.7) were similar at baseline in the NODAT group compared to those who did not develop it. Mean tacrolimus levels were higher in PTMS group (6.8 ± 2.9 vs 5.0. ± 2.0 P value = 0.042). By the end of 5 years, 7 patients expired; 6 due to rejection and one due to cardiovascular disease. Moreover, 2 of these patients had preexisting DM and 2 had NODAT., Conclusions: None of the baseline metabolic factors in patients undergoing liver transplant were predictive of the development of NODAT or PTMS. Mean tacrolimus levels were significantly higher in the PTMS group. A 5-year follow-up showed no excess risk of cardiovascular events or rejection in those with preexisting DM or in those who developed NODAT., Competing Interests: There are no conflicts of interest., (Copyright: © 2020 Indian Journal of Endocrinology and Metabolism.)

Introduction: Atypia of undetermined significance or follicular lesion of undetermined significance (AUS/FLUS) of The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) has emerged as the most controversial category because of its heterogeneity and inconsistent reporting. There is a definite paucity in data available from the Indian subcontinent about the outcome of nodules carrying Bethesda category III or Bethesda category IV diagnoses., Aims and Objectives: The primary objective of our study was to determine the malignancy rate in Bethesda categories III and IV nodules. The secondary objectives were to determine predictive value of BRAF V600E mutation analysis on indeterminate thyroid nodules, predictive value of Thyroid image reporting and data system (TI-RADS) in malignancy prediction and to study the common histological variants in indeterminate nodules., Materials and Methods: This prospective study included 176 consecutive nodules of Bethesda categories III and IV, diagnosed over a period of 2 years from August 2015 to August 2017. A part of the fine needle aspirate was used to perform the BRAFV600E mutation analysis. The malignancy risk associated with these Fine needle aspiration Cytology categories were discussed with the patients. Those with Bethesda category IV diagnosis was advised surgery, whereas those with Bethesda category III were given the options of close follow-up with repeat FNA in 3 months or immediate surgery., Results: In our prospective study, there were 176 consecutive samples of categories III (140/79.5%) and IV (36/20.5%). Seventy-five (53.6%) category III nodules and 29 (80.6%) category IV nodules underwent immediate surgical excision. Fifty-five consecutive indeterminate cytology nodules were subjected for BRAF V600E . One of the samples was found to be positive for BRAF T1799A (V600E) mutation. The second sample harboured a missense mutation at position 1819 (TCC--GCC), wherein the codon 607 (TCC) coding for serine was substituted by alanine (GCC) which is a variant of unknown significance. In our study, the malignancy rate of Bethesda categories III and IV, which were triaged for immediate surgery were 54.6% and 72.4%, respectively., Conclusion: Malignancy rate in Category III at our center was much higher than that described by ATA and by other studies published from centers around the world, including the only two studies from India. In view of the strikingly high malignancy rate in these indeterminate nodules, strong consideration to surgery should be given to patients with FNA results suggesting these two categories. BRAFV600E mutation analysis in FNA specimen has limited utility in improving the preoperative diagnostic rate for malignancy., Competing Interests: There are no conflicts of interest., (Copyright: © 2019 Indian Journal of Endocrinology and Metabolism.)

Background: Klinefelter syndrome (KFS) is the commonest chromosomal abnormality, yet remains largely underdiagnosed due to its varied clinical presentation. This study was done to understand the clinical spectrum in our population., Aim: We intended to study the clinical characteristics of children and adults with KFS in our population. We also desired to identify any special features of Klinefelter variants., Methods: Forty-four patients with karyotype diagnosis of KFS during the time period 2007-2015 were included in this retrospective study. Clinical details and hormonal profile were obtained from hospital information system., Results: Our study population consisted of 17 (38.6%) participants in pediatric age group (age <18 years) and 27 (61.4%) adults. Clinical presentation prompting evaluation in the former group included cardiac anomalies (29.4%), dysmorphism (23.5%), hypogonadism (17.6%), developmental delay (11.8%), tall stature (11.8%), and cryptorchidism (5.9%). Among adults, 16 (59.2%) presented with hypogonadism and 9 (20.4%) had primary infertility. Six children (35.3%) had micropenis and four (three children, one adult) had unilateral undescended testis. Behavioral problems were detected in 19 (43.2%) subjects. Mean follicle stimulating hormone (FSH) and luteinizing hormone (LH) values were 38 IU/mL and 18 IU/mL, respectively. The classical 47 XXY karyotype was detected in 38 (86.4%) subjects and 6 (13.6%) had karyotype consistent with Klinefelter variants., Conclusion: KFS was diagnosed only after 18 years of age in two-thirds of patients. Developmental delay, cardiac anomalies, behavioral abnormalities, and intellectual disabilities were the common presentations in pediatric subjects. Adults predominantly presented with hypogonadism. Individuals with Klinefelter variant karyotype sought medical attention predominantly for non-gonadal concerns., Competing Interests: There are no conflicts of interest.

Context: The literature on outcomes of bilateral adrenalectomy (BADx) in Cushing's syndrome (CS) is scant., Aims: The aim of this study is to analyze the short- and long-term outcomes of patients who underwent BADx and to compare the outcomes among different etiologies of CS., Settings and Design: This is a retrospective analysis of patients who underwent BADx for CS at our center between 2005 and 2018., Materials and Methods: In all, 33 patients were studied for clinical outcomes, survival rates, and long-term complications., Statistical Analysis: All analyses were performed with SPSS software (version 21.0)., Results: The mean age at surgery was 39.33 ± 15.67 years. The primary etiology for CS was Cushing's disease (CD) in 42.42%, ectopic source in 36.36%, primary pigmented nodular adrenocortical disease (PPNAD) in 12.12%, and adrenocorticotrophin hormone-independent macronodular adrenal hyperplasia (AIMAH) in 9.09% of patients. The median follow-up time was 72.77 months. Improvement in hypertension and diabetes status after surgery was seen in 78% and 76.19% of patients, respectively. Proximal myopathy improved in 68% of patients. Nelson's syndrome and adrenal crisis were seen in 21.4% of patients each on long-term follow-up. Total mortality after BADx was 33.3%. Mortality in the first 30 days after surgery was seen in five patients (15.15%). Higher cortisol levels at presentation and age more than 40 years were predictors of mortality. Among the Cushing's subtypes, PPNAD had the best prognosis followed by CD. Perioperative Infections were a major cause of mortality., Conclusion: BADx is an effective treatment for CS especially in patients with PPNAD and CD but carries a significant mortality rate too., Competing Interests: There are no conflicts of interest.

Introduction: The benefits of treating subclinical hypothyroidism are currently under debate, prevention of adverse cardiac events purporting to be one of the main benefits. The effect of subclinical hypothyroidism on the cardiovascular health of the Indian sub-population is largely unknown. This study was designed to examine these effects and to help guide treatment of this disorder., Methods: A cross-sectional adult population survey was carried out in urban coastal area of central Kerala. 986 volunteers underwent complete biochemical and physical examinations, 110 were found to have subclinical hypothyroidism (8.9%). The ten-year risk of an adverse cardiac event, was calculated using the Framingham score algorithm. Eligible subclinical hypothyroid subjects ( N = 110) and a randomly selected, age and gender matched control group ( N = 220) were compared., Results: This population was found to have high baseline levels of diabetes 19.5%, hypercholesterolemia 57.2% and systolic hypertension 24.6%. No association was found between subclinical hypothyroid status or rising TSH and Framingham 10-year risk. While no difference between groups was noted with respect to lipid profile, a rising TSH was found to be significantly correlated with mild worsening of the lipid profile. A significant positive correlation was found between skinfold thickness and TSH., Conclusions: Subclinical hypothyroidism is not a contributing factor to elevated Framingham risk in this population, and while a mild effect was observed on the lipid profile, its effect is unlikely to be clinically relevant. We hypothesize that in this population a genetic component may be responsible for the uniquely high rates of metabolic syndrome and other endocrine diseases., Competing Interests: There are no conflicts of interest.