title: Genotyping of Tunisian azoospermic men with Sertoli cell-only and maturation arrest.
abstract: Azoospermia factor (AZF) deletions were associated with severe oligospermia and azoospermia with testicular histologies varying from maturation arrest (MA) to Sertoli cell-only (SCO) phenotypes. Abnormal androgen receptor (AR) structure or function has also been implicated in male infertility. To assess the contribution of these genetic defects to azoospermic patients, 19 Tunisian men with SCO (n = 13) or MA (n = 6) were enrolled in this study. Using immunohistochemistry method, we evaluated the expression of AR in testicular biopsy for the two phenotypes. PCR with primers flanking the AR-(CAG)n region and direct sequencing were used to determine AR-(CAG)n length. And PCR amplification of 14 sequence-tagged sites (STSs) located at Yq was used to determine the rate and extent of Y microdeletions. We found a significant difference of the AR expression between SCO and MA cases. Hence, this expression in the testis depends on the status of spermatogenesis. However, we did not find any relationship between the (CAG) repeat and the testicular histology (neither for SCO nor MA). On the other hand, we found a high frequency of AZF deletions (46.2%) in SCOS and in MA (50%). The present results also suggest the contribution of Y chromosome microdeletions in SCO and MA pathogenesis.
authors:  Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia  Unité Cibles pour le Diagnostic et la Thérapie, Centre de Biotechnologie de Sfax, Sfax, Tunisia  Unit of research US 17, CHU Hospital Habib Bourguiba, Sfax, Tunisia.
authors: Lobna
authors: L
authors: Hadjkacem-Loukil
authors: Hassen
authors: H
authors: Hadj-Kacem
authors: Ikhlass
authors: I
authors: Hadj Salem
authors: Ali
authors: A
authors: Bahloul
authors: Faiza
authors: F
authors: Fakhfakh
authors: Hammadi
authors: H
authors: Ayadi