Y chromosome microdeletions in male infertility: prevalence, molecular characteristics and clinical correlates in infertile men

Kumari Pritti; Devanshi Dalal; Rohina Agarwal; Sumesh Chaudhary; Kunur Shah; Hetvi Patel; Dipak Dhoriya; Ankita Suthar

doi:10.18203/2320-1770.ijrcog20262550

Authors

Kumari Pritti Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Asarwa, Ahmedabad, India https://orcid.org/0000-0003-2495-1233
Devanshi Dalal Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Asarwa, Ahmedabad, India
Rohina Agarwal Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Asarwa, Ahmedabad, India
Sumesh Chaudhary Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Asarwa, Ahmedabad, India
Kunur Shah Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Asarwa, Ahmedabad, India
Hetvi Patel Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Asarwa, Ahmedabad, India
Dipak Dhoriya Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Asarwa, Ahmedabad, India
Ankita Suthar Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre, Asarwa, Ahmedabad, India

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20262550

Keywords:

AZF deletion, Y chromosome microdeletion, Male infertility, Azoospermia, Spermatogenesis

Abstract

Background: Y chromosome microdeletions within the azoospermia factor (AZF) regions are among the most common genetic causes of male infertility after Klinefelter syndrome. Screening for AZF microdeletions together with karyotyping plays an important role in evaluating men with impaired spermatogenesis before assisted reproductive techniques.

Methods: A total of 242 infertile men attending the andrology and reproductive genetics clinic were evaluated. Clinical assessment, semen analysis, hormonal profiling, karyotyping, and multiplex PCR-based screening of AZFa, AZFb, and AZFc regions using sequence-tagged site markers were performed.

Results: Among 242 infertile men, 80 (33.05%) had azoospermia, 44 (18.18%) severe oligozoospermia, 107 (44.21%) oligoasthenoteratozoospermia, and 8 (3.30%) asthenozoospermia. Y chromosome microdeletions were identified in 32 (13.22%) patients. AZFc deletions were the most common (96.9%), followed by combined AZFb+AZFc deletions and one isolated AZFb deletion. No AZFa deletions were detected. Most affected individuals had azoospermia or oligoasthenoteratozoospermia. One individual with Y chromosome microdeletion also exhibited mosaicism (mos45,X[80]/46,XY[20]). Ten individuals (4.13%) had varicocele with AZFc microdeletions.

Conclusions: Y chromosome microdeletions, particularly AZFc, are highly prevalent among infertile men with azoospermia and OAT. Routine evaluation of karyotype and AZF regions is essential before assisted reproductive techniques (ART) to assess prognosis and prevent transmission of genetic defects.

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