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Infertility in Males

Infertility in Males

Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...

The Ratio of X Chromosome to Autosomes

The Ratio of X Chromosome to Autosomes

In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female Drosophila...

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Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization

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Published on: April 7, 2023

Array comparative genomic hybridization in male infertility.

K Stouffs¹, D Vandermaelen, A Massart

¹Center for Medical Genetics, Universitair Ziekenhuis Brussel, Brussels, Belgium. katrien.stouffs@uzbrussel.be

Human Reproduction (Oxford, England)

|January 13, 2012

Summary

Genomic alterations may contribute to male infertility due to spermatogenesis maturation arrest. Researchers identified copy number variations (CNVs) in patients, with eight deletions/duplications potentially linked to this condition.

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Area of Science:

Reproductive biology
Genetics
Male infertility

Background:

Male infertility is often caused by spermatogenesis maturation arrest, with unknown etiology.
This arrest typically occurs at the primary spermatocyte stage.

Purpose of the Study:

To investigate genomic alterations, specifically copy number variations (CNVs), associated with male infertility in patients experiencing spermatogenesis maturation arrest.

Main Methods:

Array comparative genomic hybridization (aCGH) was used to screen for CNVs in nine patients.
Quantitative PCR (qPCR) and gene expression analysis in testicular tissue were employed for further validation.

Main Results:

A total of 227 CNVs were detected, with 11 regions selected for further investigation.
Eight deletions/duplications were identified that were absent in the control group, suggesting a potential link to male infertility.

Conclusions:

The identified deletions/duplications may be associated with spermatogenesis maturation arrest, but further functional studies are required.
The role of several candidate genes in spermatogenesis remains to be elucidated.