Familial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation.

ABSTRACT:

Context

Familial glucocorticoid resistance is a rare condition with a typical presentation of women with hirsutism and hypertension, with or without hypokalemia.

Objective

The aim was to determine the cause of apparent glucocorticoid resistance in a young woman.

Patients and methods

We studied a family with a novel glucocorticoid receptor (GR) mutation and a surprisingly mild phenotype. Their discovery resulted from serendipitous measurement of serum cortisol with little biochemical or clinical evidence for either hyperandrogenism or mineralocorticoid excess.

Results

The causative mutation was identified as a frameshift mutation in exon 6. Transformed peripheral blood lymphocytes were generated to analyze GR expression in vitro. Carriers of the mutation had les

SUBMITTER: Trebble P 

PROVIDER: S-EPMC4110505 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature