A Case of XX Male Syndrome with Anophthamia.

Jeong,  Jong Tae; Lee,  Kum Joo; Lee,  Ran; Lee,  Eun Sil; Hyun,  Jae Ho; Jung,  Gyu Young; Choi,  Hyo Sun

Case Report

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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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)