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X-linked primary adrenal hypoplasia


Thursday 4 June 2009

Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (MIM.240200) pattern.

In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed ’cytomegalic’ because they are larger than typical fetal adrenal cells.

X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism is caused by mutation in the NR0B1 (DAX-1) gene (MIM.300473).


- mutations or deletions of NR0B1 (DAX-1) gene at Xp21 (MIM.300473).
- cortex is hypoplastic
- fetal zone is intact, often has cytomegalic features
- associated with hypogonadotrophic hypogonadism in young men