• PMID: 10470409
• Gene Name: AR
• Condition: partial androgen resistance, oligozoospermia, gynecomastia, cryptorchidism
• Association: A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia
• Mutation: (GTC-> CTC) in codon 911 in exon C
• Population size: 1
• Population details: 1 partial androgen resistance and severe oligozoospermia
• Age: 30 yrs
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia

Knoke I, Jakubiczka S, Lehnert H, Wieacker P.

Mutations of the androgen receptor gene in genetic males cause a variety of androgen insensitivity syndromes varying from female phenotype through intersexuality to male phenotype with infertility. The identification of a missense mutation in the steroid-binding domain in an infertile male with mild features of androgen insensitivity is reported here. FAU - Knoke, I AU - Knoke I AD - Institut für Humangenetik, Universitätsklinikum Magdeburg, Germany. FAU - Jakubiczka, S AU - Jakubiczka S FAU - Lehnert, H AU - Lehnert H