Late onset congenital adrenal hyperplasia
Late onset congenital adrenal hyperplasia (LOCAH), also known as nonclassic congenital adrenal hyperplasia (NCCAH or NCAH), is a milder form of congenital adrenal hyperplasia (CAH), a group of autosomal recessive disorders characterized by impaired cortisol synthesis that leads to variable degrees of postnatal androgen excess.

The causes of LOCAH are the same as of classic CAH, and in the majority of the cases are the mutations in the "CYP21A2" gene resulting in corresponding activity changes in the associated P450c21 (21-hydroxylase) protein enzyme which ultimately leads to excessive androgen production. Other causes, albeit less frequent, are mutations in genes affecting other enzymes involved in steroid metabolism, like 11β-hydroxylase or 3β-hydroxysteroid dehydrogenase. It has a prevalence between 0.1% and 2% depending on population, and is one of the most common autosomal recessive genetic diseases in humans. The pathophysiology is complex and not all individuals are symptomatic.
Q366868
congenital adrenal hyperplasia
Concept
None
autosomal recessive disorders
UNK
Q190875
cortisol
Concept
Q749115
postnatal
Concept
Q62614
androgen
Concept
None
classic CAH
UNK
Q42918
mutation
Concept
Q21110736
CYP21A2
Concept
Q21110736
P450c21 (21-hydroxylase)
Concept
Q8047
enzyme
Concept
Q62614
androgen
Concept
Q177911
steroid
Concept
Q1057
metabolism
Concept
Q904925
11β-hydroxylase
MISC
Q229666
3β-hydroxysteroid dehydrogenase
UNK
Q55790415
Late onset congenital adrenal hyperplasia
UNK
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subclass of