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  

Oleh:

Goglia, Umberto ; Vinanzi, Cinzia ; Zuccarello, Daniela ; Malpassi, Davide

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 96 no. 05 (Nov. 2011), page 1165-1169.
Topik: Novel mutation; androgen receptor; azoospermia; mild androgen insensitivity syndrome

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2011.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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