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  • Title: [A non-classic form of congenital adrenal hyperplasia].
    Author: Lisá L, Ivasková E.
    Journal: Cesk Pediatr; 1992 Jul; 47(7):401-3. PubMed ID: 1394539.
    Abstract:
    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%.
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