Work

A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10)

Year: 2013

Type: article

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.

Source: Daehan saengsik uihak hoeji/Clinical and experimental reproductive medicine

DOI: 10.5653/cerm.2013.40.4.174

Authors: Seung-Hun Song, Hyung Jae Won, Tae Ki Yoon, Dong Hyun Cha, Jeong Yun Shim, Sung Han Shim

Institutions: CHA University, CHA University Gangnam Medical Center, CHA University Fertility Center

Language: English

Topic: Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W2018379066