A Case of XX Male Syndrome with Anophthamia
Journal of the Korean Society of Neonatology
;
: 175-179, 2001.
Artículo
en Coreano
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Pene
/
Fenotipo
/
Testículo
/
Cromosoma X
/
Anoftalmos
/
Reacción en Cadena de la Polimerasa
/
Constitución y Estatutos
/
Trastornos Testiculares del Desarrollo Sexual 46, XX
/
Genitales Femeninos
/
Genitales Masculinos
Límite:
Femenino
/
Humanos
/
Masculino
/
Recién Nacido
Idioma:
Coreano
Revista:
Journal of the Korean Society of Neonatology
Año:
2001
Tipo del documento:
Artículo
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