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

Abstract

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.

A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels

“…According to this case, MAIS individuals with completely normal male sexual characteristics and without gynecomastia are likely to be diagnosed with infertility in the absence of genome sequencing. Therefore, genetic investigations serve as the precise diagnostic criterion for these MAIS patients (Zuccarello et al, 2008;Abou Alchamat et al, 2017).…”

Morphological Bases of Human Leydig Cell Dysfunction

“…On the biopsy, a diffuse hyperplasia of Leydig cells surrounding each of the seminiferous tubules is observed. The presence of spermatogenesis varies from case to case [39].…”