title: Successful pregnancy in a patient with severe 11-beta-hydroxylase deficiency and novel mutations in CYP11B1 gene.
abstract: 11 beta-Hydroxylase deficiency is a rare form of congenital adrenal hyperplasia, resulting in virilization, glucocorticoid deficiency and hypertension. There have been no previous reports in the literature of a successful pregnancy in a severely affected female. We report the first successful pregnancy resulting in a live birth for a female with 11 beta-hydroxylase deficiency and outline management issues from preconception to successful birth. We also report 2 novel mutations in the CYP11B1 gene leading to 11 beta-hydroxylase deficiency.
authors.affiliation: Department of Endocrinology and Diabetes, Royal Children's Hospital Melbourne, Australia. peter.simm@rch.org.au
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Simm
authors.forename: Margaret R
authors.initials: MR
authors.lastname: Zacharin
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000328:Adult; D005260:Female; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D009154:Mutation; D049590:Postpartum Period; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics*; D011256:Pregnancy Outcome; D012720:Severity of Illness Index; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics*
chemical_list: D013252:Steroid 11-beta-Hydroxylase