Document Detail


Etiologic evaluation of male pseudohermaphroditism in infancy and childhood.
MedLine Citation:
PMID:  6331153     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We outlined a diagnostic scheme for use with prepubertal patients with male pseudohermaphroditism (MPH) that included karyotyping, a genitourethrogram, a human chorionic gonadotropin stimulation test with plasma hormone level determinations, and determination of 5 alpha-reductase activity and androgen receptor binding in genital skin fibroblasts. A thorough evaluation is warranted in all patients since the correct diagnosis may assist in determining gender assignment and providing appropriate genetic counseling. We studied 25 patients by the prescribed diagnostic scheme: seven of them had a partial gonadal dysgenesis, two were deficient in 5 alpha-reductase activity, two showed partial androgen insensitivity, four had multiple congenital malformations, one had a Wilms' tumor, and nine were considered as having an idiopathic form of MPH.
Authors:
G D Berkovitz; P A Lee; T R Brown; C J Migeon
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of diseases of children (1960)     Volume:  138     ISSN:  0002-922X     ISO Abbreviation:  Am. J. Dis. Child.     Publication Date:  1984 Aug 
Date Detail:
Created Date:  1984-08-23     Completed Date:  1984-08-23     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0370471     Medline TA:  Am J Dis Child     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  755-9     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis
Adolescent
Biopsy
Child
Child, Preschool
Chorionic Gonadotropin / blood
Gonadal Dysgenesis / diagnosis
Humans
Infant
Karyotyping
Kidney Neoplasms / diagnosis
Laparotomy
Male
Pseudohermaphroditism / diagnosis*,  etiology
Receptors, Androgen / metabolism
Testosterone 5-alpha-Reductase / deficiency
Wilms Tumor / diagnosis
Grant Support
ID/Acronym/Agency:
5T32AM 07116/AM/NIADDK NIH HHS; AM 00180/AM/NIADDK NIH HHS; RR-00052/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
0/Chorionic Gonadotropin; 0/Receptors, Androgen; EC 1.3.99.5/Testosterone 5-alpha-Reductase

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


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