[Adrenogenital syndrome--diagnosis, treatment and therapeutic control].
Congenital adrenal hyperplasia is a rare, genetic disorder. In Denmark about 90 cases have been diagnosed over the last 20 years. It is potentially life-threatening in early childhood, and must be intensively controlled in order to achieve a normal growth, pubertal maturation and fertility. This article reviews the pathogenesis and genetic and clinical characteristics underlying congenital adrenal hyperplasia, and outlines pre- and postnatal approaches to the diagnosis and monitoring, with special emphasis on 21-hydroxylase defect.
Scherling
B
B
Paediatrisk afdeling, Amtssygehuset i Glostrup.
Dige-Petersen
H
H
Kastrup
K W
KW
Skakkebaek
N E
NE
Müller
J R
JR
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D011296:Prenatal Diagnosis
Adrenogenitalt syndrom--diagnostik, behandling og behandlingskontrol.