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

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....

Descripción completa

Detalles Bibliográficos
Autores principales: Song, Seung-Hun, Won, Hyung Jae, Yoon, Tae Ki, Cha, Dong Hyun, Shim, Jeong Yun, Shim, Sung Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Reproductive Medicine 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3913897/
https://www.ncbi.nlm.nih.gov/pubmed/24505564
http://dx.doi.org/10.5653/cerm.2013.40.4.174
Descripción
Sumario: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.

Ejemplares similares