Mild androgen insensitivity syndrome (MAIS): the identification of c.1783C>T mutation in two unrelated infertile men

Two unrelated men complaining of primary male infertility presented to Orient Hospital in Damascus city. Physical examination showed moderate hypoandrogenic features. Both men were azoospermic. Hormone profiles revealed an elevation of follicle-stimulating hormone in one patient, but all the other hormones tested were within normal limits for both patients. Further genetic analyses, including karyotype and microdeletions in the AZF region of the Y chromosome, were normal in both patients. Mild androgen insensitivity syndrome was expected in the two patients. Sequencing analysis of the first exon in the androgen receptor (AR) gene have shown c.1783C>T mutation in the two patients with azoospermia. This paper sheds light on the need to screen for mutations in the AR gene, causing male infertility whenever mild hypoandrogenic features are present with unexplained male infertility.

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