[Hirsutism and light forms of congenital adrenogenital syndrome with 21- and 11-beta hydroxylase defect].
Mild clinical signs of increased androgen production in children and adolescents (premature pubarche, advanced bone maturation, tall stature) and in women (hirsutism, primary or secondary amenorrhea, or oligomenorrhea) have proven in the last few years to be attributable to mild types of congenital adrenal hyperplasia due to 21- or 11 beta-hydroxylase deficiency in quite a large proportion of patients. While HLA tissue typing makes it possible under certain circumstances (classic affected case in the family) to differentiate between heterozygotes with symptoms and mildly affected homozygotes (close genetic linkage of the loci on chromosome 6), this differentiation is not possible in 11 beta-hydroxylase deficiency. Accurate diagnosis of these mild types is important, since simple cortisol treatment can improve the clinical condition considerably.
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics* / Q000378:metabolism; D000450:Aldosterone / Q000096:biosynthesis; D000728:Androgens / Q000096:biosynthesis; D002648:Child; D002675:Child, Preschool; D003345:Corticosterone / Q000096:biosynthesis; D004967:Estrogens / Q000096:biosynthesis; D005260:Female; D006628:Hirsutism / Q000209:etiology / Q000235:genetics*; D006801:Humans; D006854:Hydrocortisone / Q000096:biosynthesis; D008297:Male; D006899:Mixed Function Oxygenases / Q000172:deficiency*; D010088:Oxidoreductases / Q000172:deficiency; D011284:Pregnenolone / Q000096:biosynthesis; D011374:Progesterone / Q000096:biosynthesis; D013250:Steroid Hydroxylases / Q000172:deficiency*
D000728:Androgens; D004967:Estrogens; D000450:Aldosterone; D011374:Progesterone; D011284:Pregnenolone; D006899:Mixed Function Oxygenases; D010088:Oxidoreductases; D013250:Steroid Hydroxylases; D003345:Corticosterone; D006854:Hydrocortisone
Hirsutismus und leichte Formen des kongenitalen adrenogenitalen Syndroms mit 21- und 11beta-Hydroxylase-Defekt.