Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.

ABSTRACT:

Context

Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia and/or overwhelming infection. Mutations of the ACTH receptor (MC2R) and the melanocortin 2 receptor accessory protein (MRAP), FGD types 1 and 2 respectively, account for approximately 45% of cases.

Objective

A locus on chromosome 8 has previously been linked to the disease in three families, but no underlying gene defect has to date been identified.

Design

The study design comprised single-nucleotide polymorphism genotyping and mutation detection.

Setting

The study was conducted at secondary and tertiary r

SUBMITTER: Metherell LA 

PROVIDER: S-EPMC2860769 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature