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

Umberto Goglia, Cinzia Vinanzi, Daniela Zuccarello, Davide Malpassi, Pietro Ameri, Massimo Casu, Francesco Minuto, Carlo Foresta, Diego Ferone

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)1165-1169
Number of pages5
JournalFertility and Sterility
Volume96
Issue number5
DOIs
Publication statusPublished - Nov 2011

Fingerprint

Androgen-Insensitivity Syndrome
Androgen Receptors
Exons
Azoospermia
Mutation
Genetic Testing
Genes
Cryptorchidism
Gonadotropins
Karyotype
Codon
Alanine
Serine
Transcriptional Activation
Reference Values
Mothers
Outcome Assessment (Health Care)
Research

Keywords

  • androgen receptor
  • azoospermia
  • mild androgen insensitivity syndrome
  • Novel mutation

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Reproductive Medicine

Cite this

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, Umberto; Vinanzi, Cinzia; Zuccarello, Daniela; Malpassi, Davide; Ameri, Pietro; Casu, Massimo; Minuto, Francesco; Foresta, Carlo; Ferone, Diego.

In: Fertility and Sterility, Vol. 96, No. 5, 11.2011, p. 1165-1169.

Research output: Contribution to journalArticle

Goglia, Umberto ; Vinanzi, Cinzia ; Zuccarello, Daniela ; Malpassi, Davide ; Ameri, Pietro ; Casu, Massimo ; Minuto, Francesco ; Foresta, Carlo ; Ferone, Diego. / 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. In: Fertility and Sterility. 2011 ; Vol. 96, No. 5. pp. 1165-1169.
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