A Case of XX Male Syndrome with Anophthamia.
- Author:
Jong Tae JEONG
1
;
Kum Joo LEE
;
Ran LEE
;
Eun Sil LEE
;
Jae Ho HYUN
;
Gyu Young JUNG
;
Hyo Sun CHOI
Author Information
1. Department of Pediatrics, St. Francisco's Hospital, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
XX male;
Anophthalmia;
Sex-determining region of Y (SRY)
- MeSH:
46, XX Testicular Disorders of Sex Development*;
Anophthalmos;
Constitution and Bylaws;
Female;
Genitalia, Female;
Genitalia, Male;
Gonads;
Humans;
Hypospadias;
Infant, Newborn;
Male;
Penis;
Phenotype;
Polymerase Chain Reaction;
Testis;
X Chromosome
- From:Journal of the Korean Society of Neonatology
2001;8(1):175-179
- CountryRepublic of Korea
- Language:Korean
-
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.
