Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.

ABSTRACT:

Context

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder as a result of mutation in genes encoding either the ACTH receptor [melanocortin 2 receptor (MC2R)] or its accessory protein [melanocortin 2 receptor accessory protein (MRAP)]. The disorder is known as FGD type 1 and 2, respectively.

Objective

The aim of the study was to compare the phenotype/genotype relationships between FGD 1 and 2.

Design and patients

Forty patients with missense MC2R mutations and 22 patients with MRAP mutations were included. Forty-four of these patients had been referred for genetic screening and 18 were patients published by other authors.

Results

The median age at presentation for FGD type 1 was variable at 2.0 years; range 0.02-16 years, and this w

SUBMITTER: Chung TT 

PROVIDER: S-EPMC2855830 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature