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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