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Case Reports
. 1989 Nov;78(6):893-5.
doi: 10.1111/j.1651-2227.1989.tb11170.x.

Congenital adrenal hypoplasia and glycerol kinase deficiency

D A Oleesky  1 , V Hakeem
Affiliations
Case Reports

Congenital adrenal hypoplasia and glycerol kinase deficiency

D A Oleesky et al. Acta Paediatr Scand. 1989 Nov.

Abstract

An unusual case of salt-wasting in a male infant is reported. The cause was a small X-chromosomal deletion within Xp21 resulting in the syndrome of congenital adrenal hypoplasia with glycerol kinase deficiency. This syndrome can readily be diagnosed by routine biochemical tests.

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