| Gonadal function, first cases of pregnancy, and child delivery in a woman with lipoid congenital adrenal hyperplasia. | |
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MedLine Citation:
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PMID: 19158201 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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CONTEXT: Mutations in the steroidogenic acute regulatory protein (StAR) gene often cause lipoid congenital adrenal hyperplasia (LCAH). In this disorder an impairment of steroid synthesis leads to adrenal and gonadal insufficiencies with a particular female genital phenotype in both human karyotypes. Pregnancy in LCAH has not been yet reported. OBJECTIVE: We describe the first cases of pregnancy in a LCAH female patient bearing the L275P mutation in the StAR gene. DESIGN: We studied the gonadal function, pubertal development, and apply the appropriate hormonal therapy to support pregnancies. PATIENT: A 46,xx patient of French Canadian descent was diagnosed with LCAH at the age of 4.5 months. Substitution therapy with glucocorticoids and mineralocorticoids led to normal growth and development. Progressive pubertal development started at the age of 11 7/12 yr. Menarche occurred at 14 2/12 yr with normal regular menstruations thereafter but without ovulation. RESULTS: Clomiphene stimulation induced the first pregnancy at 25 4/12 yr of age. Spontaneous abortion occurred after 6 wk gestation. The second pregnancy (with clomiphene stimulation) was induced at the age of 26 yr. Progesterone (Prog) therapy was added at the 17th day of the cycle to protect pregnancy. Vaginal delivery of dichorionic-diamniotic twin pregnancy occurred at 30 wk gestation (two normal weight male babies). Two years later, again under clomiphene stimulation, she underwent another successful singleton pregnancy and delivered a normal weight female baby at 36 wk. The pregnancies were almost uncomplicated. CONCLUSION: Despite the dysfunctional StAR, pregnancy is possible under the proper therapeutic strategy. |
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Authors:
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Khalil Khoury; Elie Barbar; Youssef Ainmelk; Annie Ouellet; Jean-Guy Lehoux |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2009-01-21 |
Journal Detail:
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Title: The Journal of clinical endocrinology and metabolism Volume: 94 ISSN: 1945-7197 ISO Abbreviation: J. Clin. Endocrinol. Metab. Publication Date: 2009 Apr |
Date Detail:
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Created Date: 2009-04-07 Completed Date: 2009-05-14 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0375362 Medline TA: J Clin Endocrinol Metab Country: United States |
Other Details:
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Languages: eng Pagination: 1333-7 Citation Subset: AIM; IM |
Affiliation:
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Departments of Pediatrics, Faculty of Medicine, University of Sherbrooke, Sherbrooke, Quebec, Canada. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adrenal Hyperplasia, Congenital
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physiopathology* Androgens / blood Dehydroepiandrosterone / blood Estradiol / blood Female Fetal Death Follicle Stimulating Hormone / blood Humans Hypoglycemia Infant, Newborn Luteinizing Hormone / blood Pregnancy Pregnancy Outcome* |
| Chemical | |
Reg. No./Substance:
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0/Androgens; 50-28-2/Estradiol; 53-43-0/Dehydroepiandrosterone; 9002-67-9/Luteinizing Hormone; 9002-68-0/Follicle Stimulating Hormone |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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