Chromosomal and Y‐chromosome microdeletion analysis in 1,300 infertile males and the fertility outcome of patients with AZFc microdeletions

Abstract

The present study investigated the frequency of chromosome aberrations and AZF microdeletions in infertile patients with nonobstructive azoospermia (NOA) or severe oligozoospermia. Additionally, the effect of the AZFc microdeletions on the success of microdissection testicular sperm extraction (microTESE) and intracytoplasmic sperm injection (ICSI) methods were evaluated. Peripheral blood samples were received from 1,300 infertile men with NOA and severe oligozoospermia. Karyotyping and FISH analysis were performed according to standard methods. AZF microdeletions were analysed using multiplex polymerase chain reaction or GML Y‐chromosome Microdeletion Detection System consisting of 14 markers. The chromosomal aberrations and the AZF microdeletions frequency among 1,300 infertile men were 10.6% and 4.0% respectively. Either ejaculated spermatozoa or microTESE was performed on only in 19 out of 26 patients with AZFc deletions. Of the 19 patients, four had severe oligozoospermia and 15 had NOA. In eight out of 15 NOA patients, testicular mature spermatozoa were obtained (53.3%) and then ICSI was applied to mature oocytes. After undergoing ICSI treatment, clinical pregnancy and live birth outcome rates were found to be 37.5% and 25% respectively. These results suggest that infertile patients with AZFc microdeletion could achieve successful fertilisation pregnancies with the help of assisted reproductive technology.

Multiscale analysis of SRY‐positive 46,XX testicular disorder of sex development: Presentation of nine cases

“…Peripheral blood samples were obtained from all patients for chromosomal analysis. Blood lymphocytes were cultured using modified methotrexate–thymidine synchronisation method and GTG banding as previously described (Abur et al, 2019; Rooney, 2001). Chromosomal analyses were assessed with CytoVision software (version 3.93; Applied Imaging).…”

“…The genomic DNA was extracted from peripheral blood lymphocytes using QIAamp DNA Blood Mini Kit (Qiagen GmbH) according to the manufacturer's instruction (Abur et al, 2019).…”

Analysis of Y Chromosome Microdeletion and Karyotype in 516 Patients With Azoospermia

“…Chromosome abnormality and Y chromosome microdeletion are two genetic factors that most common caused in patients with azoospermia [5].Deletions involving the three AZF regions on Yq11 have been veri ed to affect spermatogenesis and to cause infertility. In this study, the detection rate of chromosomal abnormalities in 516 patients with azoospermia was 12.8%, which is similar with the litreature 14.71%(Li Fu et al, 2012) [6].…”

Role of genetics and epigenetics in male infertility

“…Karyotype abnormalities, deletions on the long arm of Y chromosome, and CFTR gene mutations are well-established genetic causes of infertility in men with azoospermia and severe oligozoospermia (Abur et al, 2019;Agarwal, Mulgund, Hamada, & Chyatte, 2015;Beyaz, Gunes, Onem, Kulac, & Asci, 2017;Esteves, 2016;Hamada et al, 2013;Krausz & Riera-Escamilla, 2018). Besides, numerous autosomal and sex-chromosomal genes play a role in spermatogenic failure and male infertility (Esteves, 2013a;Hamada, Esteves, Nizza, & Agarwal, 2012;Ropke & Tuttelmann, 2017).…”

“…The prevalence of karyotype abnormalities in normozoospermic men ranges between 0.7% and 1.0%. By contrast, these figures are approximately 15% and 4% among men with nonobstructive azoospermia (NOA) and severe oligozoospermia respectively (Abur et al, 2019;Jungwirth et al, 2012a;Krausz & Riera-Escamilla, 2018). Low sperm count (<5 million/ml) and a family history of recurrent miscarriage, malformation or cognitive-developmental disability are well-accepted indications for karyotyping (Oehninger & Ombelet, 2019;Thirumavalavan, Gabrielsen, & Lamb, 2019).…”