A Case of 46 XX Male Syndrome.
- Author:
Jae Myoung LEE
1
;
Myung Sook SHIM
;
Young Uck KIM
;
Young Goo SHIN
;
Choon Hee CHUNG
Author Information
1. Department of Internal Medicine, Yonsei University Wonju College of Medicine, Wonju, Korea.
- Publication Type:Case Report
- Keywords:
46 XX male syndrome;
Gynecomasia
- MeSH:
46, XX Testicular Disorders of Sex Development*;
Female;
Genitalia;
Gynecomastia;
Hair;
Humans;
Karyotype;
Male;
Rare Diseases;
Young Adult
- From:Journal of Korean Society of Endocrinology
2001;16(1):148-152
- CountryRepublic of Korea
- Language:Korean
-
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.
