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Journal of the Korean Society of Neonatology 2001;8(1):175-179.
Published online May 1, 2001.
A Case of XX Male Syndrome with Anophthamia.
Jong Tae Jeong, Kum Joo Lee, Ran Lee, Eun Sil Lee, Jae Ho Hyun, Gyu Young Jung, Hyo Sun Choi
1Department of Pediatrics, St. Francisco's Hospital, Seoul, Korea.
2Department of Radiology, St. Francisco's Hospital, Seoul, Korea.
무안구증을 동반한 XX Male Syndrome 1례
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1
2
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: XX male, Anophthalmia, Sex-determining region of Y (SRY)


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