J Korean Soc Endocrinol.  2001 Feb;16(1):148-152.

A Case of 46 XX Male Syndrome

Affiliations
  • 1Department of Internal Medicine, Yonsei University Wonju College of Medicine, Wonju, Korea.

Abstract

The 46, XX male syndrome is rare disease that is characterized by a phenotypic male who has a 46, XX female karyotype. Since the first report by de la Chapelle and associates in 1964, several cases have been reported, but it is still a rare entity. Recently we examined a 20-year-old XX male who had the symptoms of gynecomastia, an infantile appearance of the external genitalia, scanty pubic hair, no Adams apple, and no axillary hair. We presently describe a patient with the 46, XX male syndrome who showed a 46, XX karyotype on chromosomal study and review the literatures.

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