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

17 Citations (Scopus)

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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