A Case of XX Male Syndrome with Anophthamia
Journal of the Korean Society of Neonatology
;
: 175-179, 2001.
Article
Dans Coréen
| WPRIM
| ID: wpr-146412
ABSTRACT
XX male has a male phenotype with testes or gonads of testicular type and a female chromosomal constitution of 46, XX with no evidence of either ovarian tissue or female genital organs. Generally, they have normal male genitalia and all are infertile. We experienced a neonate with anophthalmia, hypospadia, small penis, and normal testes, whose chromosomal analysis demonstrated 46, XX. Polymerase chain reaction revealed the existence of a sex-determining region of Y (SRY). These findings suggest that the translation of an SRY on the X chromosome led to the development of a male phenotype. We report the case with a review of the related literature.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pénis
/
Phénotype
/
Testicule
/
Chromosome X
/
Anophtalmie
/
Réaction de polymérisation en chaîne
/
Statuts
/
Syndrome du mâle XX
/
Système génital de la femme
/
Système génital de l'homme
Limites du sujet:
Femelle
/
Humains
/
Mâle
/
Nouveau-né
langue:
Coréen
Texte intégral:
Journal of the Korean Society of Neonatology
Année:
2001
Type:
Article
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