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

A Case of XX Male Syndrome with Anophthamia

• Jeong JT
• Lee KJ
• Lee R
• Lee ES
• Hyun JH
• Jung GY
• Choi HS

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.

Keyword

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

MeSH Terms

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