| 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
(Affiliation: Department of Endocrinology and Diabetes, Royal Children's Hospital Melbourne, Australia. peter.simm at rch.org.au)
|
| Journal | Hormone research
(Horm Res)
Vol. 68
Issue 6
Pg. 294-7
( 2007)
ISSN: 1423-0046 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)
|
