Three cases of congenital adrenal hypoplasia: a cause of salt-wasting and mortality in the neonatal period.
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.
Batch
J A
JA
Department of Endocrinology and Diabetes, Royal Children's Hospital, Parkville, Victoria, Australia.
Montalto
J
J
Yong
A B
AB
Gold
H
H
Goss
P
P
Warne
G L
GL
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
D013256:Steroids; D005438:Fludrocortisone; D003348:Cortisone