[Congenital adrenal hyperplasia. Presentation of a case and review of the literature].
Steroid 11 beta-hydroxylase deficiency is an autosomal recessive hereditary defect and one of the causes of congenital adrenal hyperplasia. Prenatal exposure to excess androgens results in virilization of the female fetus. Newborn males have normal genitalia. Postnatally, untreated females as well as males present with signs of androgen excess. Three forths of classic 21-hydroxylase deficiency cases do not effectively synthesize aldosterone and are salt-wasting, a condition that is potentially fatal. With carefully supervised medical treatment, congenital adrenal hyperplasia patients have the capacity for normal puberty and fertility.
Kleiman-Podlipsky
J
J
Cymet-Wulfovych
D
D
Zafra-de la Rosa
G
G
Cherem-Cherem
B
B
D000312:Adrenal Hyperplasia, Congenital / Q000000981:diagnostic imaging / Q000235:genetics / Q000517:prevention & control; D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010641:Phenotype; D014463:Ultrasonography
Hiperplasia suprarrenal congénita. Presentación de un caso y revisión de la literatura.