Document Detail

Occurrence of male phenotype in genotypic females with congenital virilizing adrenal hyperplasia.
MedLine Citation:
PMID:  2574534     Owner:  NLM     Status:  MEDLINE    
We report on two genotypic females with complete masculinization of the external genitalia secondary to congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency. One patient had the salt-losing variant, and the other had the simple virilizing or nonsalt-losing variant. One was evaluated neonatally during an adrenal crisis and misidentified as male; the second was unrecognized. Both were being reared as males when the true genotype was recognized during evaluation for cryptorchidism. The female internal genitalia were subsequently removed and testicular implants placed. These cases demonstrate the need to exclude congenital virilizing adrenal hyperplasia in any phenotypic male infant with bilateral cryptorchidism. When this condition is diagnosed, early and genotypically appropriate sex assignment is important if reproductive function is to be preserved and subsequent emotional and social complications avoided.
S Chan-Cua; G Freidenberg; K L Jones
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  34     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1989 Nov 
Date Detail:
Created Date:  1990-01-12     Completed Date:  1990-01-12     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  406-12     Citation Subset:  IM    
Department of Pediatrics, University of California, San Diego.
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MeSH Terms
Adrenal Hyperplasia, Congenital* / classification,  diagnosis,  enzymology,  pathology*
Child, Preschool
Cryptorchidism / diagnosis*
Diagnosis, Differential
Diagnostic Errors
Gender Identity
Puberty, Precocious / etiology
Sodium / deficiency
Steroid Hydroxylases / deficiency*
Virilism / diagnosis*,  etiology,  psychology
Reg. No./Substance:
7440-23-5/Sodium; EC 1.14.-/Steroid Hydroxylases

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

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