Clinical phenotype and genetics

Girls are born with ambiguous or virilized genitalia
(1). The adrenal cortex is enlarged (2). Increased
production of androgenic metabolites
causes masculinization. The cortisol deficiency
(3) leads to life-threatening crises due to loss of
sodium chloride (salt-wasting) that require
prompt treatment. AGS is an autosomal recessive
heritable disorder (4). Untreated girls
develop amale physical appearance (5). In boys,
the early signs are limited to salt-wasting. Initially,
skeletalmaturation is accelerated and the
children are tall for their age; however, they
stop growing prematurely and eventually are
too short. Besides the classic form of the disorder
with a frequency of 1:5000, there are
other forms with less pronounced masculinization
due to different mutations.