Document Detail

Dominant transmission of imperforate hymen.
MedLine Citation:
PMID:  11119759     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: Imperforate hymen is an uncommon anomaly of the reproductive tract, occurring in approximately 0.1% of newborn females. The familial occurrence of imperforate hymen in a child, her mother, and her mother's monozygotic twin is reported. DESIGN: Case report. SETTING: Academic medical center. PATIENT(S): Three affected family members. MAIN OUTCOME MEASURE(S): Karyotype and pedigree analysis. RESULT(S): The proband, presenting with peritonitis, was evaluated at age 12 for imperforate hymen because this condition was diagnosed in her mother at age 14. At age 14, the mother's monozygotic twin was asymptomatic except for primary amenorrhea and was also demonstrated to have imperforate hymen. No other reproductive system abnormalities were known to be present in the remaining family members. Chromosomal structural analysis confirmed that the mother of the proband had no chromosomal abnormalities. CONCLUSION(S): The occurrence of imperforate hymen in two consecutive generations of a family is consistent with a dominant mode of transmission, either sex-linked or autosomal. Previously reported examples of siblings with imperforate hymen suggested a recessive mode of inheritance. Taken together, these cases suggest that imperforate hymen can be caused by mutations in several genes. This case highlights the importance of evaluating all family members of affected patients. Familial examples of other developmental anomalies of the female reproductive tract also suggest a multifactorial genetic etiology.
J R Stelling; M R Gray; A J Davis; J M Cowan; R H Reindollar
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Fertility and sterility     Volume:  74     ISSN:  0015-0282     ISO Abbreviation:  Fertil. Steril.     Publication Date:  2000 Dec 
Date Detail:
Created Date:  2001-01-02     Completed Date:  2001-01-11     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0372772     Medline TA:  Fertil Steril     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1241-4     Citation Subset:  IM    
Department of Obstetrics, Gynecology, and Reproductive Biology, Beth Israel Deaconess Medical Center, Harvard Medical School, Massachusetts, Boston, USA.
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MeSH Terms
Diseases in Twins*
Genes, Dominant*
Hymen / abnormalities*
Middle Aged
Twins, Monozygotic / genetics
Vaginal Diseases / genetics*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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