• PMID: 21962961
• Gene Name: AR
• Condition: MAIS, azoospermia, cryptorchidism
• Association: To report a case of an azoospermic subject with mild androgen insensitivity syndrome (MAIS) and review the relevant literature.
• Mutation: Present study: A240S, Reported in literature: G214R, N233K, A240S, L270F, P340L, E353Q, P390S, A474V, P504T, G506N, V511V
• Population size: 2
• Population details: 2 (1cryptorchidism and azoospermia, )
• Age: 49 yrs
• Sex: Male, Female
• Infertility type: Male infertility
• Other associated phenotypes: MAIS, azoospermia, cryptorchidism

Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review

Goglia U, Vinanzi C, Zuccarello D, Malpassi D, Ameri P, Casu M, Minuto F, Foresta C, Ferone D.

OBJECTIVE: To report a case of an azoospermic subject with mild androgen insensitivity syndrome (MAIS) and review the relevant literature. DESIGN: Case report. SETTING: Academic research hospital. PATIENT(S): A 49-year-old man with undermasculinized features and a history of cryptorchidism and azoospermia. INTERVENTION(S): Hormonal evaluation and genetic testing of the androgen receptor gene (AR). MAIN OUTCOME MEASURE(S): Hormonal levels and sequence chromatogram of the proband and his mother. RESULT(S): We found total T in the normal range and high levels of gonadotropins. Karyotype was 46,XY. Genetic testing identified a novel mutation of exon 1 of AR, which resulted in an alanine to serine substitution in the transactivation domain at codon 240 (A240S). Fourteen other mutations of exon 1 of AR have been associated with MAIS to date. CONCLUSION(S): The novel mutation A240S of AR is involved in MAIS, a syndrome associated with azoospermia. CI - Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. FAU - Goglia, Umberto AU - Goglia U AD - Department of Endocrinological and Medical Sciences, University of Genova, Genova, Italy. umberto.goglia@libero.it FAU - Vinanzi, Cinzia AU - Vinanzi C FAU - Zuccarello, Daniela AU - Zuccarello D FAU - Malpassi, Davide AU - Malpassi D FAU - Ameri, Pietro AU - Ameri P FAU - Casu, Massimo AU - Casu M FAU - Minuto, Francesco AU - Minuto F FAU - Foresta, Carlo AU - Foresta C