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. 2023 Sep 18;9(10):e20221.
doi: 10.1016/j.heliyon.2023.e20221. eCollection 2023 Oct.

First report of frequencies of Y chromosome microdeletions at a reproductive medicine center in Peru

M Gavilan  1 , C Vivar  2 , V Núñez  2 , C Choque  1 , M Guzmán  2 , C Duarte  2
Affiliations

First report of frequencies of Y chromosome microdeletions at a reproductive medicine center in Peru

M Gavilan et al. Heliyon. .

Abstract

Objective: Y chromosome Microdeletions are the second genetic cause of infertility in men. Despite its importance for infertility treatment, there is no previous research in Peru. The aim of this study was to determine the frequencies and characteristics of Y chromosome microdeletions in a group of men who sought infertility consultation at a specialized reproductive medicine center in Peru.

Methods: In this study, 201 semen samples were analyzed. The samples were obtained from Niu Vida's fertility program. Each seminal sample was analyzed according to the recommendations of the Laboratory Manual of the World Health Organization (WHO) 2010. A buccal swab and a 500 μL aliquot of seminal sample were used for the molecular study of Y chromosome microdeletions in each patient. The frequencies and the type of Y chromosome microdeletion in the AZFa, AZFb and AZFc regions were evaluated.

Results: The prevalence of Y chromosome microdeletions in the AZF region was 6.45% in oligozoospermic and azoospermic patients, and a prevalence of 20% was observed specifically in azoospermic patients. No microdeletions of AZFb type were detected. A partial region microdeletion of AZFa was detected in a teratozoospermic patient with a normal sperm count.

Conclusions: The study represents the first report on the incidence of Y chromosome microdeletions in Peru. Our results indicate a high prevalence of microdeletions in azoospermic patients compared to similar studies. It is suggested to assess the presence of AZFa microdeletions and to evaluate additional genetic markers in this region to identify specific mutations that may cause impaired sperm production and male infertility in the Peruvian male population.

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Conflict of interest statement

The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Figures

Fig. 1
Fig. 1
Vertical Electrophoresis. Ladder 100 bp (Lane 1 and 7). Gel A: Microdeletion in the sY254 region in seminal and oral swab samples (Lane 2 and 3 respectively). Gel B: microdeletion in the sY255 region in seminal and oral swab samples (Lane 2 and 3, respectively). Line 4: DNA of normal male, line 5: DNA female, line 6 Negative control. The red arrow indicates the presence of the AZFc microdeletion.
Fig. 2
Fig. 2
Vertical Electrophoresis. Ladder 100 bp (Lane 1 and 7). Microdeletion in the sY86 region in seminal and oral swab samples (Lane 2 and 3, respectively). Lane 4: DNA of normal male, line 5: DNA female, line 6 Negative control. The red arrow indicates the presence of the AZFa microdeletion.
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