Pericentric inversion in chromosome 1 and male infertility.

Ranwei Li,Peng Zhan,Xiao Yang,Haitao Fan,Qiushuang Zhang,Shuqiang Feng

doi:10.1515/med-2020-0404

Abstract

Pericentric inversion in chromosome 1 was thought to cause male infertility through spermatogenic impairment, regardless of the breakpoint position. However, carriers of pericentric inversion in chromosome 1 have been reported with normal fertility and familial transmission. Here, we report two cases of pericentric inversion in chromosome 1. One case was detected in utero via amniocentesis, and the other case was detected after the wife of the carrier experienced two spontaneous abortions within 5 years of marriage. Here, the effect of the breakpoint position of the inversion in chromosome 1 on male infertility is examined and compared with the published cases. The association between the breakpoint of pericentric inversion in chromosome 1 and spermatogenesis is also discussed. Overall, the results suggest that the breakpoint position deserves attention from physicians in genetic counseling as inversion carriers can produce offspring.

Highlights

A male infertility factor is diagnosed in 50% of infertile couples [1] and affects approximately 4% of men worldwide [2]
It has been reported that carriers of pericentric inversion in chromosome 1 have normal fertility and familial transmission
This study reports on two male cases of pericentric inversion in chromosome 1 and discusses the association between the breakpoint of pericentric inversion in chromosome 1 and male infertility

Summary

Introduction

A male infertility factor is diagnosed in 50% of infertile couples [1] and affects approximately 4% of men worldwide [2]. Structural chromosomal abnormalities play a major role in perturbing male infertility, resulting in infertility, spontaneous abortion, or the birth of a malformed child [3]. Pericentric inversions are structural chromosomal aberrations caused by 180° rotation of the. Studies have shown that pericentric inversion in chromosome 1 is associated with azoospermia [4,7,8,9]. It has been reported that carriers of pericentric inversion in chromosome 1 have normal fertility and familial transmission. The relationship between the specific inversion/ breakpoint in chromosome 1 and the clinical outcome requires further clarification. This study reports on two male cases of pericentric inversion in chromosome 1 and discusses the association between the breakpoint of pericentric inversion in chromosome 1 and male infertility

Case report

Discussion

Findings

Conclusion