title: Successful pregnancy in a woman with rare compound heterozygoticity for congenital adrenal hyperplasia; case report.
abstract: 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.
authors.affiliation: Second Division of Endocrinology, Alexandra General Hospital, Athens, Greece.
authors.forename: P
authors.initials: P
authors.lastname: Kontoleon
authors.forename: I
authors.initials: I
authors.lastname: Ilias
authors.forename: P D
authors.initials: PD
authors.lastname: Papapetrou
mesh_terms: 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*
chemical_list: D013255:Steroid 21-Hydroxylase