Endocrine Abstracts

Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant hereditary cancer syndrome caused by missense gain-of-function mutations of the RET proto-oncogene, encoding a receptor tyrosine kinase, on chromosome 10. It has a strong penetrance of medullary thyroid carcinoma (MTC) and can be associated with bilateral pheochromocytoma and primary hyperparathyroidism. MEN 2 is divided into three varieties depending on clinical features: MEN 2A, MEN2B and FMTC (familial MTC...

Hypophosphatemic rickets is an X-linked dominant inherited bone disorder, characterized by renal phosphate wasting, inappropriately normal to low vitamin D serum levels and severe skeletal and dental defects from early childhood. Inactivating mutations in the PHEX gene (phosphate regulating gene with homologies to endopeptidases on the X-chromosome) have been identified as the underlying cause, although the pathomechanism is unknown. The PHEX gene encodes a membrane-bound meta...

Inactivating mutations of the calcium-sensing receptor (CaSR) gene, present in homozygous or heterozygous forms, cause neonatal severe hyperparathyroidism or familial hypocalciuric hypercalcemia. The R-568 binds to the transmembrane region of the CaSR thereby enhancing its sensitivity to extracellular calcium ([Ca2+]o) and inhibiting parathyroid hormone (PTH) secretion. The therapeutic potential of calcimimetics like R-568 has been demonstrated in patient...

Objective: Congenital adrenal hyperplasia results from 21-hydroxylase deficiency in more than ninety percent of cases. The classical form of 21-hydroxylase deficiency presents in the neonatal period with virilization or adrenal insufficiency, with or without concurrent salt wasting. We report on a rare case of classic 21-hydroxylase deficiency diagnosed in late adulthood.Case report: A 39-year-old male patient presented for workup of infertility. Urologi...