• PMID: 19752597
• Gene Name: AR
• Condition: Oligoasthenoteratozoospermia, hypergonadotropic hypogonadism
• Association: Skewed inactivation of the paternal SRY-bearing X chromosome was detected by molecular analysis of the androgen receptor gene.
• Population size: 1
• Population details: 1 Oligoasthenoteratozoospermia, hypergonadotropic hypogonadism
• Age: 37-year-old
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Oligoasthenoteratozoospermia, hypergonadotropic hypogonadism

Hidden X chromosomal mosaicism in a 46,XX male

Chernykh VB, Kurilo LF, Shilova NV, Zolotukhina TV, Ryzhkova OP, Bliznetz EA, Polyakov AV.

We report on a 37-year-old XX male with complex hidden X chromosomal mosaicism. The patient had fully mature male genitalia with hypoplastic testes descended in the scrotum and no sign of undervirilization. Hormonal examination demonstrated hypergonadotropic hypogonadism, semen analysis showed severe oligoasthenoteratozoospermia. In situ hybridization revealed the presence of 3 SRY-positive cell lines bearing 1, 2 or 3 X chromosomes. Skewed inactivation of the paternal SRY-bearing X chromosome was detected by molecular analysis of the androgen receptor gene. CI - (c) 2009 S. Karger AG, Basel. FAU - Chernykh, V B AU - Chernykh VB AD - Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russian Federation. chernykh@med-gen.ru FAU - Kurilo, L F AU - Kurilo LF FAU - Shilova, N V AU - Shilova NV FAU - Zolotukhina, T V AU - Zolotukhina TV FAU - Ryzhkova, O P AU - Ryzhkova OP FAU - Bliznetz, E A AU - Bliznetz EA