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: Peter J Simm, Margaret R Zacharin
• Journal: Hormone research (Horm Res) Vol. 68 Issue 6 Pg. 294-7 ( 2007) ISSN: 1423-0046 [Electronic] Switzerland
• PMID: 17726333 (Publication Type: Journal Article)
• Copyright: (c) 2007 S. Karger AG, Basel.

Chemical References

• Steroid 11-beta-Hydroxylase

Topics

• Adrenal Hyperplasia, Congenital (genetics)
• Adult
• Female
• Humans
• Infertility, Female (genetics)
• Mutation
• Postpartum Period
• Pregnancy
• Pregnancy Complications (genetics)
• Pregnancy Outcome
• Severity of Illness Index
• Steroid 11-beta-Hydroxylase (genetics)