J Korean Soc Neonatol.  2001 May;8(1):175-179.

A Case of XX Male Syndrome with Anophthamia

  • 1Department of Pediatrics, St. Francisco's Hospital, Seoul, Korea.
  • 2Department of Radiology, St. Francisco's Hospital, Seoul, Korea.


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.


XX male; Anophthalmia; Sex-determining region of Y (SRY)
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