Document Detail

Unilateral gonadal dysgenesis with both testis and fallopian tube on the same side in a 45,X/46,X inv (Y) mosaic male.
MedLine Citation:
PMID:  1753438     Owner:  NLM     Status:  MEDLINE    
A 5-year-old male with ambiguous external genitalia, hypospadias and microphallus without an urethral orifice was referred for cytogenetic studies. Exploratory laparotomy revealed presence of an infantile uterus and unilateral gonadal dysgenesis with both testes and fallopian tube on the right side. The metaphase cells from peripheral blood culture showed both 45,X/46,X inverted Y (p11.2q11.23) cell-lines (98:2). The inverted Y was found to be of paternal origin. Maternal chromosomal pattern was normal 46,XX. The presence of a fallopian tube next to testis suggest absence of secretion of anti-Mullerian hormone by Sertoli cells. The absence of Wolffian duct derivatives suggest insufficient secretion of testosterone by Leydig cells.
U Radhakrishna; V C Shah; N J Chinoy
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Jinrui idengaku zasshi. The Japanese journal of human genetics     Volume:  36     ISSN:  0021-5074     ISO Abbreviation:  Jinrui Idengaku Zasshi     Publication Date:  1991 Sep 
Date Detail:
Created Date:  1992-01-30     Completed Date:  1992-01-30     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0420105     Medline TA:  Jinrui Idengaku Zasshi     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  251-5     Citation Subset:  IM    
Department of Zoology, School of Sciences, Gujarat University, Ahmedabad, India.
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MeSH Terms
Child, Preschool
Chromosome Inversion*
Fallopian Tubes / abnormalities*
Gonadal Dysgenesis / genetics*,  pathology
Sex Chromosome Aberrations / genetics*
Testis / abnormalities*
Y Chromosome*

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