Document Detail


Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype.
MedLine Citation:
PMID:  1844355     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We have studied two unrelated genetic males with a novel constellation of genital, cardiac, and pulmonary malformations. The genital abnormalities consisted of a true double vagina, retention of Müllerian structures, and undervirilization of the external genitalia. Both infants had complex cyanotic congenital heart defects, hypoplastic right lungs, anomalous pulmonary venous return, and abnormalities of the diaphragm. One patient had rhabdomyomatous dysplasia of the lungs. The cause of this malformation pattern is unknown. There was no family history of similar defects, no consanguinity, no known exposure to teratogens, and no chromosome abnormality. The retention of Müllerian structures and undervirilization of male genitalia in these cases could be the result of failure in production of adequate amounts of testosterone and Müllerian inhibitory factor at appropriate times in gestation. Because the developing human vagina is at no stage a duplicate structure, a double vagina cannot be the result of arrested genital differentiation. The unusual occurrence of a true double vagina should lead to careful pulmonary and cardiac evaluation.
Authors:
L R Meacham; K J Winn; F L Culler; J S Parks
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  41     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1991 Dec 
Date Detail:
Created Date:  1992-02-28     Completed Date:  1992-02-28     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  478-81     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Emory University, Atlanta, Georgia.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / embryology,  genetics
Female
Genitalia / abnormalities
Heart Defects, Congenital / genetics*
Humans
Infant
Karyotyping
Lung / abnormalities*
Male
Vagina / abnormalities*
Comments/Corrections
Comment In:
Am J Med Genet. 1992 Sep 15;44(2):252   [PMID:  1456303 ]

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


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