title: Three cases of congenital adrenal hypoplasia: a cause of salt-wasting and mortality in the neonatal period.
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.
authors.affiliation: Department of Endocrinology and Diabetes, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: J A
authors.initials: JA
authors.lastname: Batch
authors.forename: J
authors.initials: J
authors.lastname: Montalto
authors.forename: A B
authors.initials: AB
authors.lastname: Yong
authors.forename: H
authors.initials: H
authors.lastname: Gold
authors.forename: P
authors.initials: P
authors.lastname: Goss
authors.forename: G L
authors.initials: GL
authors.lastname: Warne
mesh_terms: D000311:Adrenal Glands / Q000002:abnormalities*; D003348:Cortisone / Q000627:therapeutic use; D005260:Female; D005438:Fludrocortisone / Q000627:therapeutic use; D008401:Gas Chromatography-Mass Spectrometry; D030342:Genetic Diseases, Inborn / Q000097:blood / Q000175:diagnosis / Q000401:mortality / Q000652:urine; D006801:Humans; D007010:Hyponatremia / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D007231:Infant, Newborn; D008297:Male; D013256:Steroids / Q000652:urine
chemical_list: D013256:Steroids; D005438:Fludrocortisone; D003348:Cortisone