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DOI: 10.1055/s-0038-1628970
Der nicht klassische 21-Hydroxylasemangel
Klinik, Diagnostik und TherapieNon-classical 21-hydroxylase deficiencyClinical manifestation, diagnostics and therapyPublication History
Eingegangen am:
15 June 2009
angenommen am:
26 June 2009
Publication Date:
27 January 2018 (online)
Zusammenfassung
Das Adrenogenitale Syndrom (AGS) vom Typ des 21-Hydroxylasemangels gehört zu den häufigsten genetischen Erkrankungen. Durch eine Störung der Glukokortikoidbiosynthese in der Nebennierenrinde kommt es zur unzureichenden Synthese von Cortisol und konsekutiv zu einer vermehrten Bildung von Androgenen. Bei schweren Enzymdefekten ist eine pränatal beginnende Virilisierung weiblicher Feten die Folge. Weniger schwere Defekte führen zum nicht klassischen AGS, welches sich erst postnatal mit einer Hyperandrogenämie manifestiert. Das Manifestationsalter schwankt zwischen dem Grundschul- und dem Erwachsenenalter. Typische klinische Zei-chen bei Kindern sind eine prämature Pubarche, eine Wachstumsbeschleunigung oder eine Akne. Bei Jugendlichen und erwachsenen Frauen können Hirsutismus, Zyklusstörungen, Infertilität oder eine androgenetische Alopezie auffallen. Der Schweregrad der Symptome ist sehr variabel. Die Diagnose kann hormo-nell mittels eines ACTH-Stimulationstest erfolgen, in dem das Steroid 17-Hydroxyprogesteron signifikant erhöht ist. Die Therapie besteht aus einer Gabe von Hydrocortison im Wachstumsalter und kann auf Prednison oder Dexamethason im Erwachsenenalter umgestellt werden.
Summary
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most frequent genetic diseases. Insufficient biosyn-thesis of glucocorticoids in the adrenal cortex causes a subsequent biosynthesis of androgens within the organ. Complete or nearly complete inactivation of 21-hydroxylase leads to prenatal virilisation of female fetuses. Incompletely inactivated enzymes cause non-classical or late-onset forms of CAH, manifesting with hyperandrogenaemia postnatally. Age at manifestation varies from childhood to adulthood. Typical clinical signs in children are premature pubarche, acceleration of growth or acne. Female adolescents and adults show hirsutism, oligomenorrhoea, infertility or alopecia. The severity of symptoms is highly variable. The diagnosis can be set up by ACTH stimulation testing, in which the steroid 17-hydroxyprogesterone is significantly elevated. Medical treatment consists of hydrocortisone during growth and can be switched to prednisone or dexamethasone after closure of the epiphyseal cartilages.
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