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congenital adrenal hypoplasia

Monday 16 January 2006

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).

Bilateral adrenal hypoplasia is associated with anencephaly due to lack of ACTH cells.

Bilateral adrenal hypoplasia causes adrenal insufficiency.

Bilateral adrenal hypoplasia may be associated with sudden infant death syndrome (SIDS) (576781)

Infant symptoms

- weight loss
- vomiting
- dehydration
- severe electrolyte disturbances due to adrenal insufficiency

Miniature adult type of hypoplasia: sporadic or autosomal recessive; small glands but normal architecture

Macroscopy

- small for age adrenal glands
- decreased fetal zone in newborns

Microscopy

- scattered cytomegalic cells
- decreased lipid content

Differential diagnosis

- chronic exogenous glucocorticoids causes acquired hypoplasia

Etiology (Exemples)

- constitutional triploidy
- NR0B1A (DAX1) deletion or inactivating mutations
- X-linked primary adrenal hypoplasia (NR0B1A-associated adrenal hypoplasia)

  • mutations or deletions of DAX-1 gene at Xp21
  • adrenal cortex hypoplasia
  • 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

- Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita. Krone N, Riepe FG, Dörr HG, Morlot M, Rudorff KH, Drop SL, Weigel J, Pura M, Kreze A, Boronat M, de Luca F, Tiulpakov A, Partsch CJ, Peter M, Sippell WG. Hum Mutat. 2005 May;25(5):502-3. PMID: 15841486