A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10).
10.5653/cerm.2013.40.4.174
- Author:
Seung Hun SONG
1
;
Hyung Jae WON
;
Tae Ki YOON
;
Dong Hyun CHA
;
Jeong Yun SHIM
;
Sung Han SHIM
Author Information
1. Department of Urology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Klinefelter syndrome;
Isochromsomes;
Androgens
- MeSH:
Adolescent;
Androgens;
Body Weight;
Gynecomastia;
Hair;
Humans;
Hypogonadism;
Infertility;
Karyotype;
Klinefelter Syndrome*;
Male;
Phenotype;
Puberty;
Quality of Life;
Testis;
Testosterone
- From:Clinical and Experimental Reproductive Medicine
2013;40(4):174-176
- CountryRepublic of Korea
- Language:English
-
Abstract:
Klinefelter syndrome is the most common genetic form of male hypogonadism, but the phenotype becomes evident only after puberty. It is characterized by infertility, small testes, sparse body and facial hair, increased body weight, gynecomastia, increased LH and FSH, and a low level of testosterone. Early recognition and treatment of Klinefelter syndrome can significantly improve the patient's quality of life and prevent serious consequences. Here, we report an infertile man with a rare variant of Klinefelter syndrome with a 47, XY, i(X)(q10) karyotype.
