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    
Abstract/OtherAbstract:
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.
Authors:
U Radhakrishna; V C Shah; N J Chinoy
Related Documents :
7721658 - Effects of macrophage depletion at different times after treatment with ethylene dimeth...
21500968 - Development of a cell immobilization technique for the conversion of polysialogangliosi...
11159868 - Delivery of a cyclic adenosine 3',5'-monophosphate response element-binding protein (cr...
3939178 - Effect of thiourea on the testicular steroidogenesis and secondary sexual characters of...
2732928 - Intercapsular cataract surgery with lens epithelial cell removal. part ii: effect on pr...
15583168 - Pst1 and ecm33 encode two yeast cell surface gpi proteins important for cell wall integ...
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    
Affiliation:
Department of Zoology, School of Sciences, Gujarat University, Ahmedabad, India.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Chromosome Inversion*
Fallopian Tubes / abnormalities*
Female
Gonadal Dysgenesis / genetics*,  pathology
Humans
Male
Mosaicism*
Sex Chromosome Aberrations / genetics*
Testis / abnormalities*
Y Chromosome*

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


Previous Document:  A 3' splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a ...
Next Document:  Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q...