| Successful pregnancy in a patient with severe 11-beta-hydroxylase deficiency and novel mutations in CYP11B1 gene. | |
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MedLine Citation:
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PMID: 17726333 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Peter J Simm; Margaret R Zacharin |
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Publication Detail:
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Type: Journal Article Date: 2007-08-27 |
Journal Detail:
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Title: Hormone research Volume: 68 ISSN: 1423-0046 ISO Abbreviation: Horm. Res. Publication Date: 2007 |
Date Detail:
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Created Date: 2007-11-06 Completed Date: 2007-12-13 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0366126 Medline TA: Horm Res Country: Switzerland |
Other Details:
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Languages: eng Pagination: 294-7 Citation Subset: IM |
Copyright Information:
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(c) 2007 S. Karger AG, Basel. |
Affiliation:
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Department of Endocrinology and Diabetes, Royal Children's Hospital Melbourne, Australia. peter.simm@rch.org.au |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Hyperplasia, Congenital
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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* |
| Chemical | |
Reg. No./Substance:
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EC 1.14.15.4/Steroid 11-beta-Hydroxylase |
| Comments/Corrections | |
Comment In:
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Horm Res. 2007;68(6):298-9
[PMID:
17726334
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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