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We report a novel missense variant of the HSD3B2 gene in a 46,XY child born to third degree consanguineous parents presenting with undervirilization and progressive hyperpigmentation. The steroid profile showed elevated concentrations of 17-hydroxyprogesterone, but normal androstenedione and testosterone. The adrenocorticotropic hormone was elevated. The direct DNA sequencing of the child revealed a new homozygous missense variant in the HSD3B2 gene, resulting in the amino acid substitution of proline for leucine at codon 197. We have described a hitherto novel HSD3B2 gene variant in an undervirilized male infant causing 3β-hydroxysteroid dehydrogenase 2 deficiency.

BACKGROUND AND AIMS: COVID-19 pandemic has strained the health infrastructure globally, providing an opportunity to identify cost-effective biomarkers. We aimed to identify simple hematological prognostic markers in hospitalized severe COVID-19 patients with and without diabetes. METHODS: Retrospective study of RT-PCR confirmed hospitalized severe COVID-19 patients (total: n = 154 patients, including diabetic subset n = 57) were analyzed. Clinically applicable cut-offs were derived using receiver operating characteristic (ROC) curve analysis for total leucocyte count (TLC), absolute neutrophil count (ANC), neutrophil lymphocyte ratio (NLR), and derived neutrophil lymphocyte ratio (dNLR) in order to prognosticate the outcome. RESULTS: Among 154 severe COVID-19 patients, significant association with mortality was seen with respect to TLC(p

Although insulin delivery devices are widely used by the patients, there is a paucity of published guidelines to help professionals manage their patients in insulin therapies. To provide simple and easily implementable guidelines to health care physicians on the choice of insulin delivery devices in routine clinical practice, experts in diabetes gathered together and discussed the recommendations at the National insulin Summit 2018. An ideal insulin delivery device should accurately deliver the prescribed dose of insulin and be easy to use. Recommendations are: (1) insulin should be initiated by using an insulin device if the patient seems to discontinue insulin therapy. (2) Pen devices offer accurate dosing than a syringe and vial and are associated with cost savings in the long term. (3) Switching over from syringes and vial to disposable pen devices improves adherence. (4) FlexPen

Aims To evaluate calculated total plasma osmolality as a marker of outcome prediction, fluid and metabolic balance, thrombotic risk in severe COVID-19 patients. Methods Retrospective data of RT-PCR confirmed hospitalized severe COVID-19 patients (total: n = 175 patients, including diabetic subset: n = 102) were analyzed. Clinically applicable cut-offs were derived using receiver operating characteristic (ROC) curve analysis for calculated total osmolality, eGFR, and D-dimer, and their correlations were studied. Results Among 175 severe COVID-19 patients, a significant association with mortality was seen with respect to calculated total osmolality (p

Diabetes is a chronic metabolic and inflammatory disorder resulting in long term vascular complications. Glucotoxicity has been proposed to aggravate inflammatory stress. In this background,effect of early insulin therapy on inflammatory markers in relation to the glycemic status could be relevant in the newly diagnosed Type 2DM patients. Clinical studies highlighting this pathophysiologic aspect are sparse. Objective: To determine the effect of early insulin therapy in newly diagnosed patients with type 2 diabetes mellitus on inflammatory markers and glucotoxicity. Methods: 40 newly diagnosed type 2 diabetes patients, attending the endocrinology OPD at a tertiary teaching hospital were enrolled in this treatment related follow up study after institutional ethical committee clearance, conducted between May 2019 to February 2020. Patients with HbA1C > 8.5% to

Background: COVID-19 pandemic has challenged the healthcare resources globally, inspiring the need for identifying simple, economical biomarkers. COVID-19 is an immune-inflammatory disorder and systemic inflammatory index (SII) derived from the peripheral blood has been proposed as a marker.Methods: Retrospective study of severe COVID-19 hospitalized patients (total N=154 including diabetic subset N=57). Data regarding hematological variables such as absolute neutrophil count (ANC), absolute lymphocyte count (ALC), platelet count along with thrombo-inflammatory proteins, D-dimer, C-reactive protein (CRP) were extracted from medical records. SII was calculated from ANC×platelets/lymphocyte count. Clinically applicable cut-offs were derived using the receiver operating characteristic curve (ROC) analysis for SII, CRP and D-dimer. Correlations between hematological parameters and D-dimer, CRP were analyzed to validate them as biomarkers of thrombo-inflammation and as predictors of clinical outcome.Results: Among 154 severe COVID-19 patients, significant association with mortality was seen with respect to ANC (p

Abstract: Type 2 diabetes mellitus is characterized by insulin resistance and progressive beta cell decline. Elevated glucagon levels and impaired incretin axis also contribute to the poor glycemic status. Early intensive glycemic control, reduces long-term vascular complications and may preserve β-cell function. Clinical studies of effect of early insulin therapy on combined alpha and beta cell function are lacking. Objective: To determine the effect of early insulin therapy on combined alpha and beta cell dysfunction (islet cell dysfunction) in newly diagnosed type 2 diabetes. Methods: 56 newly diagnosed type 2 diabetes patients, attending the endocrinology OPD at a tertiary teaching hospital were enrolled in this treatment related follow up study after institutional ethical committee clearance, conducted between May 2017 to December 2018. Patients with HbA1C > 8.5% to

Aarskog–Scott syndrome is an X-linked inherited disease characterized by short stature, facial abnormalities, skeletal, and genital anomalies. Although ophthalmic, dental, and cardiac defects are rarely seen. The present case report is of a 10-year-old boy with Aarskog syndrome who born with third degree of consanguineous marriage, delivered by caesarean section. The boy had triangular facies, maxillary hypoplasia, short neck, hypoplastic ear lobes, drooping shoulders, clinodactyly, single palmar crease, shawl scrotum. The patient was on growth hormone (GH) therapy and responding well. Along with GH therapy, the patient was on rehabilitation program and his family was undergoing genetic counseling.

Aim: To evaluate the effect of hypothyroidism (both overt and subclinical) on cognitive function using latencies of P300 auditory evoked potentials (AEPs). P300 latency suggests that shorter latency times are related to better cognitive performance. P300 latencies were also done after thyroxine replacement to see the effect of treatment on cognitive function. Materials and Methods: Biochemically proven new onset cases with hypothyroidism (overt and subclinical) were enrolled into the study, AEPs of these two groups when compared with matched controls. After detailed history and physical examination, P300 potentials were recorded at two points Cz and Pz (Cz: On the midline of the head at the vertex, Pz: On the midline of the head between the vertex and occipital protuberance) using a Nicolet Viking Select neuro diagnostic system version 10.0. The study was done in electrophysiology lab in Osmania Medical College. Results: A patient characteristics of both cases and controls were comparable. The cases consisted of two groups, overt hypothyroid cases 24, mean thyroid stimulating hormone (TSH) values in them was 94, subclinical cases 21 in whom mean TSH value was 12.3. Mean P300 latencies of all cases at Cz was 342.42 ± 29.5 ms, and at Pz was 345.4 ± 30 ms. Mean P300 latencies of controls at Cz was 296.4 ± 34 ms and at Pz was 297.9 ± 33 ms (difference in P < 0.001). Mean P300 values in overt cases were 362.6 ± 32.9 ms at Cz, and at Pz it was 362.5 ± 33.9 ms. Mean P300 values in subclinical cases were 319.3 ± 30.9 ms at Cz, and at Pz it was 316.4 ± 27.9 ms. P300 values in overt cases were highly significant as compared to controls, and P300 values in the subclinical cases versus controls were also significant (P < 0.001). Conclusion: P300 latency prolongation in both clinical and subclinical hypothyroid cases shows that cognitive function is affected adversely in hypothyroidism including the subclinical hypothyroid cases. Larger studies evaluating the effect of subclinical hypothyroidism on cognitive function are needed with objective means such as the AEPs P300.

Klinefelter syndrome (KS) is the most common chromosomal aneuploidy in males. It is very difficult to diagnose this disorder in childhood due to absence of significant manifestations before puberty. These patients usually present with tall stature. We report a case of KS with short stature due to growth hormone deficiency. The boy’s height was below the 3rd centile with significant delay in bone age. He responded well to growth hormone injections. In view of mental subnormality karyotyping was done, which revealed KS (47XXY).

Context: There are little data on the prevalence of thyroid autoimmunity in gestational diabetes mellitus (GDM) and its influence on pregnancy outcomes. Aims: The aims were to estimate the prevalence of thyroid autoimmunity in euthyroid GDM and to compare the pregnancy outcomes in euthyroid antithyroid peroxidase antibody (TPOAb)-positive women to TPOAb-negative women and to compare the pregnancy outcomes across the euthyroid range of thyroid-stimulating hormone (TSH). Design: This is an observational, prospective cohort study. Subjects and Methods: One hundred women with GDM with euthyroid status were recruited. Samples were analyzed for TSH, free T4, and TPOAb. Women with TPOAb positivity were considered as cases and with TPOAb negativity were controls. Pregnancy outcomes assessed were pregnancy-induced hypertension (PIH), preterm delivery, cesarean section, birth weight, birth asphyxia, neonatal jaundice, hypoglycemia, seizures, and stillbirths. Statistical Analysis: Student t-test and Chi-square test were used to compare the mean values between the groups and differences between proportions, respectively, and P Results: The prevalence of TPOAb positivity in euthyroid GDM was 14%. Pregnancy outcomes between cases and controls were similar except for neonatal jaundice (42.9% vs. 18.5%), which was statistically significant (P = 0.04). PIH occurred in 28.6% and 25.6% in cases and controls, respectively. There was no significant difference in maternal and neonatal outcomes across euthyroid range of TSH. Conclusion: The prevalence of TPOAb positivity in euthyroid GDM was similar to the nondiabetic pregnant women. Neonatal jaundice was more in TPOAb-positive women. Pregnancy outcomes were comparable across the euthyroid range in GDM, suggesting similar range as those without GDM. There is no influence of thyroid autoimmunity on pregnancy outcomes in GDM in the present study.

Background: Hypogonadism as well as deficiency of testosterone can lead to disorder of sexual function in males. The initial clinical manifestations of this are mostly erectile dysfunction (ED) and hypoactive sexual desire disorder (HSSD). This not only causes the sexual dysfunction but can also lead to many health problems. To study the role of depression, anxiety, testosterone and luteinizing hormone levels in disorders of sexual function Methods: A hospital based cross sectional study was conducted at department of General Medicine, Kamineni Academy of Medical Sciences, Hyderabad for a period of one year among 60 eligible study subjects to study the role of depression, anxiety, testosterone and luteinizing hormone levels in disorders of sexual function. All male patients aged between 21-60 years, who had stable heterosexual relationship, were included. Patients with severe diseases, users of alcohol and smoking, having marital disharmony were excluded. Informed consent was obtained from all the patients. Results: Testosterone and LH levels are significantly lower in subjects with SD, suggesting that a state of hypogonadotropic hypogonadism prevails in male diabetics with SD. Depression and anxiety are significant factors associated with SD. Premature Ejaculation is significantly associated with Anxiety. Conclusions: Testosterone and LH levels are significantly lower in subjects with SD. Depression and anxiety is significant factors associated with SD. Premature Ejaculation is significantly associated with anxiety.

Background: SD is very common in type 2 diabetic men. Many middle aged and older adults with diabetes are sexually active, but the rate of sexual inactivity is higher than in non-diabetic subjects. The objective of this study was to study various factors associated with sexual dysfunction in males with type- 2 diabetes mellitus. Methods: A total of 60 male type 2 diabetic subjects were studied. They were divided in to two groups, 42 subjects with SD were in one group and 18 subjects with normal sexual function were in the second group. Differences between groups were assessed for statistical significance using T-test, Mann-Whitney test and Chi-square test, where ever applicable. The data were presented as Mean±Standard deviation or percentages. Results: The prevalence of SD was 70%, ED was 93%, Orgasmic dysfunction was 38 %, 9 had HSDD (21%) and 22 had premature ejaculation (52%). The age (p = 0.335), duration of DM (p = 0.097), BMI (p = 0.717), WC (p = 0.138) were not significantly different between two groups. FPG (p = 0.000), PPG (p = 0.000) and HbA1c (p = 0.000) were significantly higher in SD group. Non-HDL cholesterol level (p = 0.001) and TG level (p = 0.021) were significantly higher in SD group. The eGFR (p = 0.150) was not significantly different between two groups. Spot urine protein creatinine ratio (p = 0.002) was significantly higher in SD group. Conclusions: It was concluded that SD is a highly prevalent problem in males with type 2 DM. ED is the most common form of SD, followed by PE, Orgasmic dysfunction and HSDD. The age, duration of DM, BMI and WC are not associated factors of SD.

Objective: To elucidate how iron deficiency anemia influence the natural history of diabetes mellitus and to study the effect of iron indices, mitochondrial oxidative capacity and oxidative stress on insulin resistance and secretion in established cases of type 2 diabetes. Research design and methods: A comparative cross-sectional study was conducted in 40 healthy controls, 40 iron deficiency anemia (IDA), 40 type 2 diabetes without iron deficiency anemia and 40 type 2 diabetes with iron deficiency patients. All the Patients were BMI, age and sex matched. Glycemic indices, fasting serum insulin levels, iron indices, inflammatory markers, Total Antioxidation Capacity (TAOC), Mitochondrial Oxidative Capacity (MOC) were analyzed. Results: In iron deficiency anemia there was decrease in MOC, TAOC and HOMA B (p

Aim: To evaluate bone health markers and Vitamin D status in patients with hyperthyroidism comprehensively, and comparison of same with matched controls. Materials and Methods: The study has been done on 30 newly diagnosed hyperthyroid patients and matched controls. Cases were selected after careful exclusion of conditions which adversely affect bone health. Statistical comparisons were performed with Student's t -test. Results: The study group has shown normal calcium (20% had hypocalcemia), normal phosphorus, normal parathyroid hormone values, raised alkaline phosphatase levels, and significant rise in both bone formation (osteocalcin) and resorption (β-cross laps) markers ( P Conclusion: Hyperthyroidism is associated with increased rate of bone remodeling and changes in mineral homeostasis, thereby increases fracture risk. Associated Vitamin D deficiency further deteriorates bone quality. Hence, we suggest therapeutic Vitamin D and calcium supplementation is needed in addition to antithyroid medication.

Aim: To determine the prevalence of pulmonary hypertension (PHT) related to hyperthyroidism and its outcome with treatment. Materials and Methods and Results: We performed serial echocardiographic examinations in 25 consecutive patients with hyperthyroidism (20 females, five males) to estimate pulmonary artery hypertension at baseline and were repeated once an euthyroid state was achieved (mean 6 months after initiation of anti-thyroid treatment). Results were compared with 15 age- and sex-matched healthy controls. All hyperthyroid patients had normal Left Ventricular systolic function and 14 patients (56%) had PHT with Pulmonary arterial systolic pressure of at least 35 mmHg. There were no significant differences in the clinical characteristics of hyperthyroid patients with or without PHT. Nonetheless, those with PHT had significantly higher Cardiac Output PASP, peak trans-mitral early diastolic flow velocity (E), and ratio of E to early diastolic mitral annular velocity (E1). Among the 14 hyperthyroid patients with PHT, 10 (40%) had pulmonary arterial hypertension (PAH) with normal E/E1, and 10 (16%) had pulmonary venous hypertension (PVH) with elevated E/E1. These hemodynamic abnormalities and PHT were reversible in patients with PAH or PVH after restoration to a euthyroid state. Conclusion: In patients with hyperthyroidism and normal LV systolic function, up to 56% had PHT due to either PAH with increased CO (40%) or PVH with elevated LV filling pressure (16%). More importantly, hyperthyroidism-related PHT was largely asymptomatic and reversible after restoration to a euthyroid state.

Co-occurrence of adrenal incidentaloma with hypertension calls for evaluation of endocrine causes including pheochromocytoma, Cushing′s disease, and primary aldosteronism. We are reporting 40-years-old man who presented with hypertension and adrenal mass. He had elevated metanephrines, histology of resected adrenal mass revealed adrenal myelolipoma, and immuno-histochemistry was positive for chromogranin A. Both his blood pressure and urinary metanephrines returned to normal after surgery. The association of hypertension and adrenal myelolipoma may not be entirely coincidental, as it may be associated with secreting catecholamine. Literature on such an uncommon association is reviewed briefly as well.

Sjogrens syndrome is a slowly progressing autoimmune disease, primarily affects exocrine glands, in addition non-exocrine glands affected as well. The coexistence of Sjogrens syndrome and autoimmune thyroiditis is frequent and suggests a common genetic or environmental factor predisposition with similar pathogenic mechanisms. We herein report three cases of this association, who presented to us with different manifestations of Sjogrens syndrome.

Fifteen children with protein-energy malnutrition and eight healthy children between the ages of 6 months and 60 months were studied for blood glucose and serum insulin levels in the fasting state and 120 minutes following oral glucose load. The measurements were repeated after normalization of the body weight following 6 weeks of nutritional rehabilitation. The fasting blood glucose increased significantly in the post-treatment period and became comparable to the control value. The abnormal blood glucose response to oral glucose load also normalized. The serum insulin level rose significantly (p < 0.001) in the post-treatment period but failed to normalize. The response to oral glucose load was similar. The observed lower insulin response, despite normoglycemia, after 6 weeks of nutritional rehabilitation indicates persistence of hormonal imbalance which may need a longer duration of rehabilitation for full recovery.