Endocrine Abstracts

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by unresponsiveness to ACTH and isolated cortisol deficiency. FGD is caused by mutations in genes encoding the ACTH receptor (melanocortin 2 receptor (MC2R)), its accessory protein (MRAP) or the steroidogenic acute regulatory protein (StAR). One significant feature is generalized skin hyperpigmentation which is thought to be due to elevated ACTH acting on the melanocortin 1 receptor (...

Background: Disorders caused by impairments in the parathyroid hormone (PTH) signaling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that encompasses rare, related but highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and the results of an in vitro as...

Pseudohypoparathyroidism (PHP) and related disorders lead to a wide spectrum of abnormal physical characteristics, neurocognitive and endocrine abnormalities that share a common PTH/PTHrP signaling pathway. The clinical and molecular overlap of PHP and related disorders lead to difficulties in clinical and molecular diagnosis which prompt to the possibility of incorrect management of these patients. PHP (including all subtypes), pseudoPHP, acrodysostosis and progressive osseou...