[A non-classic form of congenital adrenal hyperplasia].
The authors examined five children with the non-classical form of adrenal hyperplasia. The clinical symptoms of the disease comprise: early congenital pubic hair, small stature, accelerated bone maturation, infertility, in girls hirsutism, acne, menstrual disorders, amenorrhoea, in boys oligospermia, acne. Laboratory examination reveals slightly elevated 17-OH progesterone values during the synactene loading test. It is an autosomal recessively hereditary disease. It is due to an allelic variant of the gene for 21 hydroxylase. The authors revealed a link with antigen B14. Even in the small group examined antigen B14 was present in 40%, although the prevalence in our population is 2.9%.
Lisá
L
L
I. dĕtská klinika 2. lékarské fakulty UK a Fakultní nemocnice s poliklinikou v Motole, Praha.
Ivasková
E
E
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D013255:Steroid 21-Hydroxylase / Q000235:genetics
D013255:Steroid 21-Hydroxylase