A Case of XX Male Syndrome with Anophthamia
Journal of the Korean Society of Neonatology
; : 175-179, 2001.
Article
在 Ko
| WPRIM
| ID: wpr-146412
Responsible library:
WPRO
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.
Key words
全文:
1
索引:
WPRIM
主要主题:
Penis
/
Phenotype
/
Testis
/
X Chromosome
/
Anophthalmos
/
Polymerase Chain Reaction
/
Constitution and Bylaws
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46, XX Testicular Disorders of Sex Development
/
Genitalia, Female
/
Genitalia, Male
限制:
Female
/
Humans
/
Male
/
Newborn
语言:
Ko
期刊:
Journal of the Korean Society of Neonatology
年:
2001
类型:
Article