Abstract
As a significant chromosomal structural abnormality, chromosomal inversion is closely related to male infertility. For inversion carriers, the interchromosomal effect explains male infertility, but its specific mechanism remains unclear. Additionally, inversion carriers with different chromosomes have different clinical manifestations. Therefore, genetic counseling is difficult in clinical practice. Herein, four male carriers of pericentric inversion in chromosome 6 have been described. Two patients showed asthenospermia, one showed azoospermia, and the wife of the remaining patient had recurrent miscarriages. Through a literature search, the association between the breakpoint of pericentric inversion in chromosome 6 and male fertility problems are also discussed in this study. Overall, important genes related to asthenospermia in chromosome 6p21 were found, which may be related to the clinical phenotype. These results suggest that physicians should focus on the breakpoints of inversion in genetic counseling.
Highlights
Male infertility is a common clinical problem reported to reproductive medicine centers
Tang et al [2] reported that variants of homozygous helicase for meiosis 1 are responsible for spermatogenic failure
MLH3 single nucleotide polymorphisms in human populations can lead to male infertility [3,4,5]
Summary
Male infertility is a common clinical problem reported to reproductive medicine centers. Genetic variation is one of the important causes of male infertility. MLH3 single nucleotide polymorphisms in human populations can lead to male infertility [3,4,5]. The breakpoints of chromosome structural rearrangement could result in additional alterations, such as gene disruption or position effect, which lead to male infertility [6]. Karyotype analysis is an important component of male infertility analysis [7]. Structural abnormalities may affect spermatogenesis and are closely associated with male infertility [8]. Inversion is an important structural aberration and has been proven to be associated with male infertility [8,9,10,11]
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