Genetic defects that cause abnormalities in this receptor or in a protein required for its expression at the cell surface result in a potentially fatal disease (familial glucocorticoid deficiency).

We report studies on a male patient with this rare triad. The patient had alacrima from birth; isolated glucocorticoid deficiency had been diagnosed at 3.5 years of age and achalasia at age 6.

This patient shared the features of glucocorticoid deficiency, red hair and moderate obesity, and was homozygous for the same immunoreactive, bioinactive missense mutation in the coding region of ...

Her specialist clinical interest is in the investigation and management of paedaitric adrenal disorders and childhood obesity. She has worked on MRAPs and Familial Glucocorticoid Deficiency over the ...

SAN DIEGO - Neurocrine Biosciences, Inc. (NASDAQ:NBIX) has sponsored a supplement in The Journal of Clinical Endocrinology & Metabolism (JCEM) focusing on classic congenital adrenal hyperplasia (CAH), ...