Successful live birth after intracytoplasmic sperm injection using testicular sperm in non-mosaic Klinefelter syndrome

摘要

Klinefelter syndrome represents one of the most common male sex chromosome disorders with a prevalence of 1 out of 500 male newborns[1].The syndrome is marked by the presence of an additional X chromosome in human males.It manifests mostly as 47,XXY,and can take the mosaic form as 46,XY/47,XXY.A 36-year-old adult had been referred to our department for primary infertility exploration.Prior semen analyses had demonstrated azoospermia.The patient had no particular pathological history.The physical examination revealed a well-masculinized body with normal hair density and distribution,without gynecomastia.However,genital examination revealed bilateral hypotrophic testes.