Endocrine Abstracts

Introduction and Case report: Congenital adrenal hyperplasia (CAH) is a heterogenous group of conditions resulting from inborn errors of steroidogenesis, of which over 95% are due to 21-hydroxylase deficiency.We present a 15-year-old Nepalese female, who was referred to the endocrine clinic for management of CAH. This diagnosis had been at 11 months of age, whilst resident in Hong Kong, when she presented acutely with vomiting and seizures. She had since...

Background: The Lin28 family of proteins are emerging as important regulators of microRNAs in endocrine systems. Lin28a influences primordial germ cell development in mice, and overexpression of Lin28a in transgenic mice has recently been shown to influence body size, timing of puberty and litter size. The related protein LIN28B is associated with age at menarche and stature in several independent genome-wide association studies in humans.A...

Context: ACTH-producing neuroendocrine cancer (NEC) of the thymus is rare. Lymph nodes and bone are most common metastatic sites. ACTH-secreting thymic NEC with pancreatic metastasis was only reported in one case. Most cases presented with florid Cushing syndrome (CS). Our case had thymic NEC with pancreatic metastasis, presenting with intermittent flush instead of typical CS. We demonstrate the comprehensive information of somatostatin receptors (SSTR), three different kinds ...

The nuclear receptor steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a key regulator of adrenal and gonadal development, steroidogenesis and reproduction, and targeted deletion of Nr5a1 (Sf1) in the mouse results in adrenal and gonadal agenesis, XY sex-reversal and persistent Müllerian structures in males. Consistent with this phenotype, DNA-binding mutations in SF1 have been reported in two 46,XY female patients with primary adrenal failure and uterine s...