Journal of Korean Endocrine Society 2001;16(1):148-152.
Published online February 1, 2001.
A Case of 46 XX Male Syndrome.
Jae Myoung Lee, Myung Sook Shim, Young Uck Kim, Young Goo Shin, Choon Hee Chung
Department 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.
Key Words: 46 XX male syndrome, Gynecomasia


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