Document Detail

Clinical, hormonal and cytogenetic evaluation of 46,XX males and review of the literature.
MedLine Citation:
PMID:  16200839     Owner:  NLM     Status:  MEDLINE    
The main factor influencing the sex determination of an embryo is the genetic sex determined by the presence or absence of the Y chromosome. However, some individuals carry a Y chromosome but are phenotypically female (46,XY females) or have a female karyotype but are phenotypically male (46,XX males). 46,XX maleness is a rare sex reversal syndrome affecting 1 in 20,000 newborn males. Molecular analysis of sex-reversed patients led to the discovery of the SRY gene (sex-determining region on Y). The presence of SRY causes the bipotential gonad to develop into a testis. The majority of 46, SRY-positive XX males have normal genitalia; in contrast SRY-negative XX males usually have genital ambiguity. A small number of SRY-positive XX males also present with ambiguous genitalia. Phenotypic variability observed in 46,XX sex reversed patients cannot be explained only by the presence or absence of SRY despite the fact that SRY is considered to be the major regulatory factor for testis determination. There must be some other genes either in the Y or other autosomal chromosomes involved in the definition of phenotype. In this article, we evaluate four patients with 46,XX male syndrome with various phenotypes. Two of these cases are among the first reported to be diagnosed prenatally.
Berrin Ergun-Longmire; Giovanna Vinci; Lita Alonso; Susan Matthew; Susan Tansil; Karen Lin-Su; Ken McElreavey; Maria I New
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  18     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2005 Aug 
Date Detail:
Created Date:  2005-10-04     Completed Date:  2005-10-19     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  England    
Other Details:
Languages:  eng     Pagination:  739-48     Citation Subset:  IM    
Department of Pediatrics, The New York Presbyterian Hospital-Weill Medical College of Cornell University, New York, NY, USA.
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MeSH Terms
Chromosome Aberrations
Chromosomes, Human, X*
Chromosomes, Human, Y*
In Situ Hybridization, Fluorescence
Infant, Newborn
Prenatal Diagnosis*
Sex Reversal, Gonadal*
Grant Support

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