Document Detail

Pseudovaginal perineoscrotal hypospadias: genetic heterogeneity.
MedLine Citation:
PMID:  6105737     Owner:  NLM     Status:  MEDLINE    
Defects in either the production or the action of androgenic steroids have been demonstrated to cause pseudovaginal perineoscrotal hypospadias, a syndrome of male hermaphoditism. The ability to make a rapid, specific biochemical diagnosis in an infant with this syndrome, and thus to predict the infant's response to androgens, could be a valuable aid in the assignment of sex to an infant with ambiguous external genitalia.
B S Keenan
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Urologic clinics of North America     Volume:  7     ISSN:  0094-0143     ISO Abbreviation:  Urol. Clin. North Am.     Publication Date:  1980 Jun 
Date Detail:
Created Date:  1980-10-24     Completed Date:  1980-10-24     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0423221     Medline TA:  Urol Clin North Am     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  393-407     Citation Subset:  AIM; IM    
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MeSH Terms
17-Hydroxysteroid Dehydrogenases / deficiency
Androgen-Insensitivity Syndrome / enzymology,  genetics
Child, Preschool
Gynecomastia / genetics
Hypospadias / enzymology,  genetics*
Noonan Syndrome / genetics
Pseudohermaphroditism / enzymology,  genetics
Testosterone 5-alpha-Reductase / deficiency
Virilism / genetics
Reg. No./Substance:
EC 1.1.-/17-Hydroxysteroid Dehydrogenases; EC 5-alpha-Reductase

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

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