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NR0B1A-associated adrenal hypoplasia
Tuesday 20 April 2010
Etiology
mutations or deletions of DAX-1 (NR0B1A) gene at Xp21
Synopsis
adrenal cortex is hypoplastic
fetal zone is intact, often has cytomegalic features
associated with hypogonadotrophic hypogonadism in young men
See also
Adrenals
- adrenal malformations
References
Identification of a novel mutation in DAX1/NR0B1A gene in two siblings with severe clinical presentation of adrenal hypoplasia congenita. Mantovani RM, Pezzuti IL, Dias VM, Silva IN. Arq Bras Endocrinol Metabol. 2009 Aug;53(6):771-6. PMID: 19893922