Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.

ABSTRACT:

Context

Lipoid congenital adrenal hyperplasia is a severe disorder of adrenal and gonadal steroidogenesis caused by mutations in the steroidogenic acute regulatory protein (StAR). Affected children typically present with life-threatening adrenal insufficiency in early infancy due to a failure of glucocorticoid (cortisol) and mineralocorticoid (aldosterone) biosynthesis, and 46,XY genetic males have complete lack of androgenization and appear phenotypically female due to impaired testicular androgen secretion in utero.

Objective

The objective of this study was to investigate whether nonclassic forms of this condition exist.

Patients and methods

Sequence analysis of the gene encoding StAR was undertaken in three children from two families who presented with primary adre

SUBMITTER: Baker BY 

PROVIDER: S-EPMC1865081 | biostudies-literature | 2006 Dec

REPOSITORIES: biostudies-literature