Non-classic congenital adrenal hyperplasia due to 21-hydoxylase deficiency as a cause of infertility and miscarriages.
Miscarriages and infertility can be presenting symptoms of non-classic congenital adrenal hyperplasia (NCAH). Two sisters are described with fertility issues and multiple miscarriages occurring up to 20 weeks of pregnancy. After diagnosing NCAH due to 21-hydroxylase deficiency and initiating glucocorticoid treatment,conception occurred within 3 months and uneventful pregnancies and deliveries ensued.
Falhammar
Henrik
H
Department of Endocrinology, Cairns Base Hospital, PO Box 902, Cairns, QLD 4870, Australia. henrik.falhammar@ki.se
D000022:Abortion, Spontaneous / Q000209:etiology*; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000175:diagnosis* / Q000188:drug therapy; D000328:Adult; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007247:Infertility, Female / Q000209:etiology*; D009154:Mutation; D011239:Prednisolone / Q000627:therapeutic use; D011247:Pregnancy; D035781:Siblings; D013255:Steroid 21-Hydroxylase / Q000235:genetics
D005938:Glucocorticoids; D011239:Prednisolone; C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase