An Original Genetic Protocol For The Investigation of Y Microdeletions In Male Infertile Patients

Authors : Aysen Akhundova, Sezin Canbek, Burcu Turkgenc

Pages : 110-127

Doi:10.20515/otd.1537723

View : 36 | Download : 54

Publication Date : 2025-01-17

Article Type : Research Paper

Abstract :The inability to conceive during 12 months or more of consistent, unprotected vaginal sex is known as infertility. In 30% of patients diagnosed with male infertility due to oligozoospermia and azoospermia, infertility is related to genetic causes. Y chromosome microdeletions are seen in idiopathic azoospermia (15-20%) and idiopathic oligozoospermia (7-10%). Complete or partial deletion status affects the patient\\\'s production of viable sperm. In this study we aimed to investigate partial and complete Y microdeletions in male infertile patients with a unique genetic protocol, taking into account the recommendations of the EAA/EMQN 2023 guidelines. In this study, DNA material from 45 patients, most of whom had azoospermia, 1 healthy female, and 1 healthy male control DNA were analyzed for Y chromosome AZF complete and partial microdeletions using the gold standard two-step multiplex PCR methodology. In our study, the Y microdeletion rate was 11.1% in 45 male patients diagnosed with male infertility. Of a total of 5 patients with deletions, 2 (Patients 21 and 31) had partial AZFb+c (40%) with loss of the Y chromosome terminal heterochromatin region (Sy160), 1 (Patient 23) had complete AZFc (20%) with preservation of the Y chromosome terminal heterochromatin region (Sy160), and 2 (Patients 25 and 35) had complete AZFa+b+c (40%) microdeletions. ZFY/ZFX and SRY (sY14) were preserved in Patient 25 and Patient 35 with complete AZFa+b+c deletions. The karyotype analysis result of Patient 35 was 46, XX male. A unique genetic protocol, based on the current 2023 EAA/EMQN guidelines, has been developed to examine Y microdeletions in male infertile patients with high sensitivity and accuracy and provides advantages over previous protocols.
Keywords : Azospermi, AZF, erkek infertilitesi, Y kromozom mikrodelesyon, multipleks PZR