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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.

Aim: To investigate the prevalence and the risk factors for cardiac autonomic neuropathy (CAN) in type 2 diabetes mellitus (DM) patients. Study Design: Cross-sectional cohort study. Place and Duration of Study: This study was conducted in the Department of Endocrinology, Gauhati Medical College and Hospital, Assam, India between December 2016 to March 2018. Methodology: We included 100 patients (60 males and 40 females; age range: 36–72 years) with type 2 DM. Their clinical, biochemical, and metabolic parameters were analyzed and assessment of CAN were done based on the Ewing's criteria. Results: Out of 100 patients, 60 were males and 40 were females. The mean age of the patients was 53.3 ± 10.37 years (36–72 years) and the mean duration of diabetes was 9.03 ± 6.4 years (6 months–25 years). Patients were divided into two groups: “without CAN” (CAN−) and “with CAN” (CAN+). The prevalence of CAN was 70%, with early CAN in 25%, definite CAN in 24%, and severe CAN in 21% cases The patients with CAN were older (P = 0.0005), had longer diabetes duration (11.56 vs. 3.13; P = 0.0001), higher creatinine (P < 0.0001), and lower estimated glomerular filtration rate (eGFR) (P = 0.0001) compared to patients without CAN. Retinopathy, peripheral neuropathy, and nephropathy were common in CAN + patients. On multiple logistic regression analysis, duration of diabetes [odds ratio (OR); 6.7, P < 0.0001), older age (OR; 1.07, P < 0.016), and lower eGFR (OR; 0.97, P < 0.03) were risk factors for CAN. Conclusion: CAN is a common microvascular complication in type 2 DM with duration of diabetes, age, and severity of nephropathy being its significant determinants.

To assess the correlation between urinary C peptide creatinine ratio with serum C peptide, serum insulin and its correlation with clinical and biochemical parameters of metabolic syndrome. A total of 100 subjects more than 18 years of age with metabolic syndrome according to ATP III criteria with 100 controls were included in a prospective observational study for a period of 1.5 years. Individual parameters of metabolic syndrome was higher in females with hypertriglyceridemia was most common and hyperglycaemia least common parameter of metabolic syndrome. Fasting urinary C peptide creatinine ratio and Stimulated urinary C peptide correlate significantly with fasting serum C peptide (p2.7 can be used as a parameter to distinguish individual with and without metabolic syndrome. Urinary C peptide creatinine ratio correlate with serum C peptide and parameters of metabolic syndrome and can be used as a non-invasive simple tool to assess insulin resistance and also to distinguish patients with and without metabolic syndrome.

Aims Aim of the study was to assess the gonadal function of young adult males with metabolic syndrome and to compare them with healthy age matched controls. Methods Forty young male subjects of age group 20–40 years who fulfilled the IDF criteria (2005) for diagnosis of metabolic syndrome were included in the study. Thorough evaluation of the subjects was done and history of sexual dysfunction if any was noted. Pooled blood samples were collected from each subject in fasting state for total testosterone, SHBG, FSH, LH, prolactin and insulin levels. All hormonal analyses were done by radio immune assay (RIA). Hypogonadism was defined as total testosterone less than 3 ng/ml. Eighteen healthy age matched controls were also taken for the study. Results Twenty percent of subjects with metabolic syndrome had eugonadotropic hypogonadism compared to 5.5% controls. Subjects with metabolic syndrome also had significantly lower SHBG level compared to the controls. Conclusion From this study it has been observed that eugonadotropic hypogonadism with low total testosterone and normal or low normal gonadotropin levels may be a feature of the metabolic syndrome in young adult males. Significant low SHBG levels as compared to controls could be one of the factors responsible for various biochemical alteration seen in these cases. This study highlights the importance of evaluating gonadal function in young adult males with the metabolic syndrome and has therapeutic implications in the management of such subjects with gonadal dysfunction.

Context Agenesis of the dorsal pancreas is one of the rare congenital malformations of pancreas. The association of agenesis of the dorsal pancreas with pancreatic tumors is extremely rare and only around 9 cases being reported till date. Case report We report a case of a fifty one year old woman with an agenesis of the dorsal pancreas with periampullary pancreaticobiliary adenocarcinoma. She presented with features of obstructive jaundice without pain abdomen or fever. Laboratory data showed conjugated hyperbilirubinemia, raised alkaline phosphatase and impaired glucose tolerance. Ultrasound abdomen showed periampullary mass. MRI abdomen and MRCP demonstrated dorsal agenesis of the pancreas, dilated intra and extra hepatic bile ducts with narrowing of distal CBD with periampullary mass. Pancreatic tumor was considered as preoperative diagnosis, and pancreaticoduodenectomy was performed. Histopathology confirmed pancreaticobiliary type of adenocarcinoma. Conclusion A rare case of dorsal agenesis of the pancreas with periampullary pancreaticobiliary type of adenocarcinoma was presented. Therefore this case therefore merits reference as a rare clinical presentation. Image: Immunohistochemical staining of poorly differentiated tumor showing positivity for proliferative marker Ki-67., JOP. Journal of the Pancreas, Vol 15, No 5 (2014): September - p. 413-540

Autoimmune polyglandular syndromes (APS) comprise a wide clinical spectrum of autoimmune disorders. APS is divided into Type I, Type II, Type I and Type IV depending upon the pattern of disease combination. Ghronic diarrhoea is one of the many manifestations of APS and many aetiological factors have been suggested for it. Apart from the established aetiological factors, intestinal lymphangiectasia may be responsible for chronic diarrhea in some cases.Intestinal lymphangiectasia has been reported in Type I APS. We report a case of Type III APS with hypocalcaemia and hypothyroidism who had chronic diarrhea of long duration and was finally diagnosed to have intestinal lymphangiectasia.

Thyroid dysfunction in patients with Down’s syndrome is well known. Hypothyroidism is the common abnormality documented. Hyperthyroidism is however, relatively rare. We report two cases of Down’s syndrome with Graves’ disease, one of whom succumbed to neutropenia and sepsis.

Dual ectopic thyroid is a rare presentation of thyroid ectopia. Only a few cases have been reported in the world literature. Dual ectopic thyroid in the presence of a normally located thyroid is even rarer. We report a case of dual ectopic thyroid in the lingual and submandibular areas in a seventeen-year-old female with hypoplastic thyroid gland in its normal location. The patient presented with a midline swelling at the base of tongue with dysphagia. Thyroid function test revealed primary hypothyroidism. Ultrasonography of the neck showed hypoplastic thyroid in its normal location. A thyroid scan with Technetium-99 m pertechnate showed two intensely hyperfunctioning foci of ectopic thyroid tissue at a higher level in the midline consistent with dual ectopic thyroid, one at the base of tongue and the other in submental region. No uptake was seen in the normal bed.