Three cases of congenital adrenal hypoplasia: a cause of salt-wasting and mortality in the neonatal period

J A Batch; J Montalto; A B Yong; H Gold; P Goss; G L Warne

doi:10.1111/j.1440-1754.1991.tb00363.x

Three cases of congenital adrenal hypoplasia: a cause of salt-wasting and mortality in the neonatal period

J Paediatr Child Health. 1991 Apr;27(2):108-12. doi: 10.1111/j.1440-1754.1991.tb00363.x.

Authors

J A Batch¹, J Montalto, A B Yong, H Gold, P Goss, G L Warne

Affiliation

¹ Department of Endocrinology and Diabetes, Royal Children's Hospital, Parkville, Victoria, Australia.

PMID: 1883648
DOI: 10.1111/j.1440-1754.1991.tb00363.x

Abstract

Three infants with congenital adrenal hypoplasia are described. The two surviving infants were detected and successfully treated in the neonatal period due to a suggestive family history (Case 1) and antenatal maternal oestriol screening (Case 2). The modes of inheritance, diverse clinical presentation, associated conditions, diagnostic work-up and pathology of congenital adrenal hypoplasia in these three infants is discussed.

Publication types

Case Reports

MeSH terms

Adrenal Glands / abnormalities*
Cortisone / therapeutic use
Female
Fludrocortisone / therapeutic use
Gas Chromatography-Mass Spectrometry
Genetic Diseases, Inborn / blood
Genetic Diseases, Inborn / diagnosis
Genetic Diseases, Inborn / mortality
Genetic Diseases, Inborn / urine
Humans
Hyponatremia / diagnosis
Hyponatremia / drug therapy
Hyponatremia / etiology*
Infant, Newborn
Male
Steroids / urine

Substances

Steroids
Fludrocortisone
Cortisone