Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).

ABSTRACT:

Context

Nonclassic congenital lipoid adrenal hyperplasia (lipoid CAH) is a recently recognized disorder caused by mutations in the steroidogenic acute regulatory protein (StAR) that retain partial function. Affected individuals can present with a phenotype of late onset adrenal insufficiency with only mild or minimally disordered sexual development.

Objectives

The aim was to delineate the clinical spectrum of StAR mutations and correlate phenotype with StAR activity.

Patients

Four patients had nonclassic/atypical lipoid CAH. Adrenal insufficiency was manifested at birth in two patients and at 11 months and 4 yr in the other two. Three were 46,XY with underdeveloped genitalia.

Methods

The StAR gene was sequenced, mutations were recreated in expression vectors, a

SUBMITTER: Sahakitrungruang T 

PROVIDER: S-EPMC2928910 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature