Document Detail


Gonadal function, first cases of pregnancy, and child delivery in a woman with lipoid congenital adrenal hyperplasia.
MedLine Citation:
PMID:  19158201     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Khalil Khoury; Elie Barbar; Youssef Ainmelk; Annie Ouellet; Jean-Guy Lehoux
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-01-21
Journal Detail:
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:
Created Date:  2009-04-07     Completed Date:  2009-05-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1333-7     Citation Subset:  AIM; IM    
Affiliation:
Departments of Pediatrics, Faculty of Medicine, University of Sherbrooke, Sherbrooke, Quebec, Canada.
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MeSH Terms
Descriptor/Qualifier:
Adrenal Hyperplasia, Congenital / 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:
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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