• PMID: 12713250
• Gene Name: AR
• Condition: Male infertility
• Association: The study concludes that phenotypic variations in mild AR defects are striking and can remain undetected even until late in life.
• PMID: 12713250
• Gene Name: AR
• Condition: Androgen insensitivy syndrome (AIS)
• Association: Family history revealed four additional adult males affected with various abnormalities of their external genitalia. Molecular analysis of the coding sequence of the AR gene revealed in all a novel point mutation in exon 6, changing threonine to isoleucin
• Mutation: threonine to isoleucine at codon position 800
• Population size: 5
• Population details: 5 AIS
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Androgen insensitivy syndrome (AIS)

A novel point mutation in the hormone binding domain of the androgen receptor associated with partial and minimal androgen insensitivity syndrome

Galli-Tsinopoulou A, Hiort O, Schuster T, Messer G, Kuhnle U.

Mutations in the coding sequence of the androgen receptor (AR) gene result in a wide range of androgen insensitivity syndromes (AIS). We report an extended family in which at least five male individuals in different generations suffer from partial AIS. The index patient presented at birth with ambiguous genitalia; the karyotype was 46,XY and subsequent sex assignment male. Elevated stimulated testosterone (T) and normal baseline gonadotropins were found. Family history revealed four additional adult males affected with various abnormalities of their external genitalia. Molecular analysis of the coding sequence of the AR gene revealed in all a novel point mutation in exon 6, changing threonine to isoleucine at codon position 800 in the hormone-binding domain. We conclude that phenotypic variations in mild AR defects are striking and can remain undetected even until late in life. FAU - Galli-Tsinopoulou, Assimina AU - Galli-Tsinopoulou A AD - Children's Hospital, 4th Pediatric Department, Aristotles University, Thessaloniki, Greece. FAU - Hiort, Olaf AU - Hiort O FAU - Schuster, Tobias AU - Schuster T FAU - Messer, Gerald AU - Messer G