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Context: Adrenal incidentalomas (AIs) are seen in around 2% of apparently healthy individuals. These require careful evaluation for the hormone excess state and the presence of malignancy prior to intervention. Aims: To study the clinical, biochemical, and imaging characteristics of the patients with AI and correlate the diagnosis with the histopathology findings in patients undergoing surgery. Settings and Design: Retrospective observational study. Methods and Material: Patients with adrenal incidentaloma presenting between January 2017 and January 2021 were evaluated as per guidelines provided by the European Society of Endocrinology and the European Network for the Study of Adrenal Tumors. Patients were given final diagnosis on the basis of imaging impression, hormonal activity, and biopsy results (when applicable). Results: Forty-eight patients were evaluated, with 25 being male, the mean age being 40.9 years (8–71), and the mean size of the mass being 6.21 (1.4–13.7) cm. Thirty-five (72.9%) of them underwent surgical excision. The most common diagnosis was myelolipoma (16), followed by pheochromocytoma (10) and adenoma (9). Nineteen patients were found to have hormone-secreting masses. Two patients with pheochromocytoma were normotensive. There was discordance between imaging diagnosis and hormonal status in two patients, with final diagnosis of pheochromocytoma. One patient with extramedullary erythropoiesis of the adrenal gland was subsequently diagnosed with sickle cell anemia and adrenal insufficiency. Conclusions: The study highlights the rare possibility of discrepancy between non-contrast CT diagnosis and functional status of AI. There is also a rare possibility of extramedullary erythropoiesis presenting as AI with adrenal insufficiency. Specific evaluation for such rare possibilities should be considered in AI cases as per clinical scenario.

Background: Disorders of sex development (DSD) are a wide range of relatively rare conditions having diverse pathophysiology. Identification of an underlying cause can help in treating any coexisting hormone deficiencies and can help with anticipating any other immediate or long-term health concerns. Objective: To study the clinical and biochemical profile of patients with 46 XY DSD along with androgen receptor (AR) gene mutation status in selected group of patients. Methods: A cross-sectional study was conducted after enrolling the eligible DSD patients. Thorough elicitation of history and detailed clinical examination was done. Assays for luteinizing hormone, follicle-stimulating hormone, testosterone, dihydrotestosterone, androstenedione, AMH & Inhibin B (where indicated), and human chorionic gonadotropin stimulation were done as per protocol. Results: In total, 48 patients were included in the study. Ambiguous genitalia (58.3%) followed by hypospadias (33.3%) were common presentation. Androgen biosynthetic defect were the most commonly encountered diagnosis followed by androgen insensitivity syndrome (AIS). Swyer syndrome was diagnosed in 4.2% of cases; partial gonadal dysgenesis, ovotesticular DSD, and vanishing testis syndrome contributed to 2% of cases each. Eight cases (16.7%) who presented with isolated proximal and midshaft hypospadias for whom no diagnosis was found were categorized in the “etiology unclear” group. AR gene mutation analysis designed against specific exons did not yield any results. Conclusion: 46 XY DSD is a heterogeneous group of patients with a varying age of presentation and a diverse clinical profile. Most patients are reared as males and maintained the same gender identity except in isolated cases. Diagnosis of AIS remains a clinical challenge as a definite hormonal criterion does not exist and genetic mutations in AR gene may be negative. Flanking region sequencing, whole genome sequencing, and promoter region sequencing may reveal pathogenic variants. Variations in other genes regulating AR pathway may also be candidates to be studied.

Context: Sex hormones levels determine the risk of occurrence of coronary artery disease (CAD) in post-menopausal (PM) women. Aims: To investigate the relationship between sex hormones (estradiol and testosterone)/sex hormone binding globulin (SHBG) and cardiovascular risk factors in PM women. In addition, we learned the association between these sex hormones/SHBG and the occurrence of atherosclerotic CAD event in PM women. Settings and Design: Cross-sectional case- control study. Subjects and Methods: Subjects recruited in the present study were from the cardiology outpatient clinic or Emergency department Guwahati Medical College and Hospital, Assam. The subjects were grouped into two categories after appropriate exclusion criteria: Cases – PM women with documented CAD (n = 40) and controls – Healthy PM women (n = 30). The medical history, clinical examination, and investigations including serum estradiol, total testosterone, SHBG, free testosterone index (FTI), high-sensitivity C-reactive protein (hs-CRP), lipid profile, carotid intima-media thickness (CIMT), fasting plasma glucose (FPG), and postprandial plasma glucose (PPPG) were done and analyzed. Statistical Analysis Used: Pearson correlation between sex hormones and CAD risk factors was done. The association between sex hormones and CAD risk factors among PM women was analyzed by multiple logistic regression. The statistical significance was set at the 0.05 level. Results: The mean age of all the subjects was 62.27 ± 6.9 years. Among the cases, a significant positive correlation was found between total testosterone/FTI and waist circumference, W/H ratio, triglyceride levels, hs-CRP, and CIMT (P < 0.01). In addition, a significant negative correlation was found between total testosterone and FTI with high-density lipoprotein-cholesterol levels (P < 0.01). The multiple logistic regression analysis showed that total testosterone levels (P < 0.01) and SHBG (P < 0.01) are independently associated with the occurrence of atherosclerotic CAD in PM. Conclusion: We conclude that increased serum testosterone levels and low SHBG in PM women are associated with the development of atherosclerotic cardiovascular risk factors.

Context: Peripubertal and adolescent children are vulnerable to vitamin D deficiency as this is the period of rapid skeletal growth. Aims: This study was done to assess the vitamin D status in school children between the age of 8–14 years attending the government schools in rural and urban areas of Assam in Northeast India. Settings and Design: This was a cross-sectional observational study. Materials and Methods: About 500 students (350 from rural and 150 from urban areas) were recruited in the study. Serum 25-hydroxy vitamin-D [25(OH)D], parathyroid hormone (PTH), calcium, phosphorus and alkaline phosphatase were measured in fasting state. Daily nutrition intake and sunlight exposure were assessed. Statistical Analysis: Student's t-test and Pearson correlation test were done to assess the association between different variables. P value

Context: The neonatal skeletal outcomes due to maternal Vitamin D deficiency. Aims: The aim of this study is to assess the serum 25 hydroxy Vitamin D (25[OH]D) status in pregnant women and correlate with cord blood 25(OH)D levels, femur length at 34 weeks gestation, and neonatal anthropometry (birth weight, birth length, and head circumference). Settings and Design: This was prospective cohort study. Subjects and Methods: This study was carried out in 250 healthy primigravida between 18 and 40 years of age in the third trimester of gestation attending the Obstetrics and Gynaecology Department of Gauhati Medical College, Guwahati from December 2012 to December 2015. Dietary assessment of calcium and Vitamin D intake, sunlight exposure among the pregnant mothers and fetal femur length measurements were done. The neonates were followed up at birth for biometric assessment and the estimation of cord 25(OH)D. Statistical Analysis Used: Chi-square test and Pearson correlation were carried out to see the association and correlation between different variables. Statistical significance was set at the 0.05 level. Results: We found low Vitamin D levels (60%) in the majority of pregnant mothers and newborns (62.4%). The mean Vitamin D levels were 17.51 ± 2.24 ng/ml and 14.51 ± 1.8 ng/ml among the low Vitamin D maternal subjects and their new born, respectively. There was a significant association of maternal Vitamin D levels with sun exposure, dietary intake of Vitamin D, serum calcium, serum alkaline phosphatase levels, and serum parathyroid hormone in subjects with low Vitamin D. Fetal femur length and birth length were significantly shorter in mothers with low Vitamin D (P < 0.01). Conclusions: Maternal hypovitaminosis D was associated with adverse skeletal outcome in neonates.

A 7-year-old boy presented with umbilical hernia and short stature. Growth retardation, recurrent upper respiratory tract infections and delayed developmental milestones were present from infancy. Umbilical hernia was diagnosed at the age of 5 years. On examination, he had short-trunk dwarfism, large head circumference, coarse facial features, joint stiffness, hepatosplenomegaly, and mild mental retardation. He had normal biochemical parameters, thyroid function tests and arterial blood gas analysis. Radiological evaluation showed that the child had Hunter syndrome with findings of J-shaped sellaturcica, proximal bulleting of metacarpals, spatulated ribs and anterior beaking of lumbar vertebrae. The second case was a 6-year-old girl with umbilical hernia, short stature, normal biochemistry and radiological findings of mucopolysaccharidosis. However, she also had corneal opacity; confirmed by slit-lamp examination, which led to the diagnosis of Hurler-Scheie syndrome. Enzymatic studies could not be done in both the cases, as they are not available at most centers.

Introduction: An increased prevalence of vitamin D deficiency has been reported from across the globe including India. Various studies have shown an intrinsic relation between various parameters of maternal and fetal wellbeing with maternal vitamin D status during pregnancy. Aims: To look for any association of vitamin D status during pregnancy with the modifiable factors - extent of sun exposure, sunscreen use, vegetarian diet, dietary calcium intake, and multivitamin supplementation. Materials and Methods: A total of 50 pregnant females, aged 20-40 years were studied during the first trimester of pregnancy. Fifty age and body mass index (BMI) matched females were taken as controls. Serum 25(OH)D was measured by radioimmunoassay (Diasorin). Result: Forty-two percent of the cases were found to have vitamin D deficiency and 14% were found to have vitamin D insufficiency, whereas 20% of the controls had vitamin D deficiency and 24% had vitamin D insufficiency (P =0.0375). There was a significant association of 25(OH)D levels with extent of sun exposure, sunscreen use, and vegetarian diet. There was no association of 25(OH)D levels with multivitamin supplementation or dietary calcium intake. Conclusion: Vitamin D deficiency was less in our study group as compared with that reported in other Indian studies. Sun exposure, sunscreen use, and vegetarian diet are important modifiable variables significantly associated with vitamin D status in pregnancy.

Introduction: In areas with severe selenium deficiency higher incidence of thyroiditis has been reported due to a decreased activity of selenium-dependent glutathione peroxidase enzyme within thyroid cells. Aims and Objective: To study the effect of selenium supplementation in patients with autoimmune thyroid disease. Materials and Methods: This is a blinded placebo-controlled prospective study done in 60 patients with autoimmune thyroid disease (as defined by an anti-thyroid peroxidase antibody (TPOAb) level more than 150 IU/ml) irrespective of the baseline thyroid status. Patients with overt hyperthyroidism who are on antithyroid drugs, patients on any other medication, which may alter the immunity status of the patients, and pregnant patients were excluded from the study. Patients were randomized into two age and TPOAb-matched groups; 30 patients received 200 μg of sodium selenite/day, orally, for 3 months, and 30 patients received placebo. All hypothyroid patients were given l-thyroxine replacement. Results: Of 30 patients in the selenium treated group, 6 patients were overtly hypothyroid, 15 were subclinical hypothyroid, 6 were euthyroid, and 3 were subclinical hyperthyroid. The mean TPOAb concentration decreased significantly by 49.5% (P < 0.013) in the selenium treated group versus 10.1% (P < 0.95) in the placebo-treated group. Conclusion: Selenium substitution has a significant impact on inflammatory activity in thyroid-specific autoimmune disease. It would be of interest to determine whether early treatment with selenium in patients with newly developed autoimmune thyroiditis may delay or even prevent the natural course of these diseases.

Introduction: Cortisol secretion is regulated by circadian rhythm, which is influenced by zeitgebers like light. In India, the entire country operates under a single time zone, Indian Standard Time, which may not align with the local sunrise timing across different regions. Aims: This study aimed to compare the basal serum cortisol levels between 06:00 AM and 09:00 AM in Guwahati, Assam, where sunrise occurs earlier compared with the western part of the country. A cross-sectional pilot study was conducted from December 2022 to June 2023 in a tertiary care hospital in Guwahati. Methods: Serum cortisol samples were collected at 06:00 AM and 09:00 AM from 25 healthy adult participants once in winter and again in summer. Descriptive statistics and paired Student’s t-tests were used. Results: The mean serum cortisol levels at 06:00 AM in winter, summer and overall were 13.2, 13.4 and 13.3 μg/dL, respectively. At 09:00 AM, the mean serum cortisol levels in winter, summer and overall were 8.2, 7.7 and 8.0 μg/dL, respectively. Significant differences were observed between the 06:00 AM and 09:00 AM cortisol levels in both winter and summer (P

Introduction: The presentation of macroprolactinomas and response to treatment may vary according to age, sex and tumour characteristics. To analyse clinical phenotype, biochemical and radiological characteristics of macroprolactinomas presenting to a tertiary care centre. A retrospective observational study from January 2018 to December 2022. Methods: Thirty diagnosed cases (18 females, 12 males) of macroprolactinomas were included and followed up for one year. Results: The most common presentation was headache (73%), visual disturbances (50%), galactorrhoea (33.3%) and loss of libido (26.6%) along with menstrual cycle disturbances (94%), and infertility (55%) in females. Duration of symptoms (2.22 ± 2.87 vs 4.61 ± 3.4 years), tumour size (4.8 ± 2.09 vs 2.75 ± 1.24 cm) and prolactin levels (5153.5 ± 4755.3 vs 1803.5 ± 3785.5 ng/ml) were different significantly between males and females. Good response to medical therapy was observed in 84% of the treatment-naive patients. Conclusion: Macroprolactinomas in males present with shorter duration of symptoms, larger size, higher prolactin levels and more resistant tumours, emphasizing the need for early diagnosis and aggressive management. Medical therapy remains the treatment of choice irrespective of gender.

Context: Osteogenesis imperfecta (OI) is a genetic disorder of the extracellular matrix of bone characterized by low bone mass manifesting as frequent fractures, delayed motor development, pain, and impaired quality of life. The intravenous bisphosphonate, pamidronate is an established treatment for OI. Recently, zoledronic acid (ZA) has been used for the management of OI. Aim: To assess the efficacy and safety of ZA in children below five years of age with OI. Settings and Design : A hospital-based prospective observational study. Methods and Material : Patients with OI aged less than five years attending our centre were treated with intravenous ZA at a dose of 0.05 mg/kg every six months. Subjects were closely monitored for clinical and biochemical variables, adverse events, and new-onset fractures. The response to therapy was assessed by monitoring clinical variables including the degree of bony pains, number of fractures, height/length standard deviation score (SDS), and motor developmental milestones. All patients were analysed at baseline and at the end of two years for biochemical parameters and clinical severity score (CSS) as proposed by Aglan et al. with modifications. Results : After two years of treatment, OI patients showed a significant decline in the rate of fractures (p < 0.001), improvement in ambulation (p = 0.005), alleviation of pain (p < 0.001), and improvement in height SDS (p < 0.05). There was a significant improvement in CSS after two years of therapy. Apart from mild flu-like symptoms and mild asymptomatic hypocalcaemia immediately post-infusion, no other adverse effect was noted. Conclusion : ZA therapy in infants and children below five years of age with OI was effective and safe and a more convenient alternative to pamidronate.