Successful pregnancy in a woman with rare compound heterozygoticity for congenital adrenal hyperplasia; case report.
Pregnancy rates in women with congenital adrenal hyperplasia--even when adequately treated--are reported to be low. We hereby describe our recent experience with the pregnancy of a patient who had congenital adrenal hyperplasia due to a rare combination of P30L/I172N mutations in the CYP21 (21-hydroxylase) gene.
Kontoleon
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P
Second Division of Endocrinology, Alexandra General Hospital, Athens, Greece.
Ilias
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Papapetrou
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D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis*; D011256:Pregnancy Outcome; D011261:Pregnancy Trimester, First; D018566:Pregnancy, High-Risk; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
D013255:Steroid 21-Hydroxylase