Bilateral gonadoblastomas with a left sided dysgerminoma in a true hermaphrodite (disorder of sexual differentiation) with 46, XY karyotype.

Ovotesticular DSD is not an uncommon disorder. The presence of Y chromosome confers a high risk of neoplastic transformation in dysgenetic gonads. The neoplastic development in these patients is associated with the presence of Y chromosome and intra abdominal location of the abnormal gonad. We report histogenetic details of a rare occurrence of bilateral gonadoblastomas and left sided dysgerminoma in a XY ovotestes DSD (disorder of sexual differentiation) in an 18 year old with a female phenotype.

The Role of Circulating MicroRNA in the Regulation of Beta Cell Function and Insulin Resistance among Indians with Type 2 Diabetes.

BACKGROUND: Circulating microRNA (miRNA/miR) levels are emerging out as markers of tissue level changes; however, their role in type 2 diabetes (T2D) needs to be explored. The study aimed to compare the circulating levels of the miRNA (miR9, miR30d, miR1, miR133a, miR29a, miR143) between T2D and gender matched controls and also to evaluate the strength of association between circulating miRNAs and beta cell function/insulin resistance among Indians with T2D. SUBJECTS AND METHODS: Thirty T2D (25-60 years) and their gender matched controls (n = 30) were recruited. Plasma glucose and insulin, HbA1c, lipid profile, and miRNA levels were estimated. Insulin resistance and beta cell function (HOMA IR and %B) were derived. Body composition was assessed by Dual-energy-x-ray absorptiometry (DXA). Comparison between the study groups was performed using independent "t" test and strength of association by Pearson's correlation. RESULTS: There was a significant difference in HOMA IR (P = 0.03) and %B (P = 0.001) between the two study groups. The muscle mass, percent body fat, and muscle to fat ratio were comparable between the two study groups. miRNA 30d was significantly higher in the T2D compared to control group even after controlling for age (P = 0.005). There was a significant positive association between miR30d with HOMA-IR (r = 0.26, P = 0.04). CONCLUSION: The current study demonstrated that miR30d (insulin gene transcription in pancreatic beta cell and regulator of insulin sensitivity in skeletal muscle) was overexpressed among T2D. Further role of other miRNA and their interaction in regulation of beta cell function and insulin resistance needs to be studied.

Megaduodenum in a patient with acromegaly.

INTRODUCTION: Acromegaly is associated with enlargement of all organs including the gastro intestinal system. However, there are no previous reports of occurrence of megaduodenum in patients with acromegaly. DISCUSSION: We present the case of a 47 year old male who was diagnosed to have acromegaly 13 years ago and had undergone transsphenoidal surgery twice with incomplete removal of the pituitary macro-adenoma and received radiotherapy following the second surgery. Patient has been on replacement therapy for hypocortisolism, hypothyroidism and hypogonadism since 10 years. Post glucose growth hormone level continued to remain unsuppressed; however, patient never received any medical therapy for acromegaly. He was evaluated with esophago-gastro-duodenoscopy for recurrent abdominal pain and distension, which showed an elongated and tortuous megaduodenum. These findings were verified with a barium study which revealed dilated stomach, first and second part of duodenum with no evidence of a distal obstruction. CONCLUSIONS: We report this finding in view of the rare association.

Congenital adrenal hyperplasia - experience from a tertiary centre in South India.

Congenital adrenal hyperplasia is a group of autosomal recessive disorders caused by enzyme deficiency which leads to defects in biosynthesis of steroid precursors. Most common is 21 hydroxylase deficiency. Clinical spectrum varies from non-classical CAH to classic CAH, and it may be simple virilising form or salt-wastinfg type. 29 patients were included in our study from January 2012 to October 2012. 76% were females. Male babies typically presented with adrenal crisis between 3(rd) to 6(th) week of life. Around 20% of females were identified and appropriately treated only after late adolescence. Short stature was seen in 1/3(rd) of patients. 1/3(rd) of patients had suppressed 17 OHP levels suggestive of over-replacement therapy which may contribute to final reduction in adult height.