AI Article Synopsis

  • Infertility affects 10-15% of couples and can be due to male factors in about half of the cases.
  • Researchers studied 90 men with severe male infertility and found that Y chromosome microdeletions and chromosomal abnormalities were present in many of them.
  • Genetic screening is recommended for men experiencing infertility due to these potential genetic issues.

Article Abstract

Infertility is defined as the inability to conceive a child after one year of regular unprotected intercourse; it is a major health problem affecting about 10-15% of all couples. Infertility is due to a male factor in approximately 50% of cases. The human Y chromosome contains genes necessary for gonadal differentiation into a testis and genes for complete spermatogenesis. We examined the frequency and type of both chromosomal abnormalities and Y chromosome microdeletions in 90 patients with severe male factor infertility and 75 fertile control men. Thirty of the infertile patients had nonobstructive azoospermia, 30 had oligozoospermia and 30 had normozoospermia. Five of 30 were azoospermic, four of 30 were oligozoospermic and two of 30 were normozoospermic with Y chromosome microdeletions. The AZFc locus was the most frequently deleted region (64%). Ten cases with azoospermia, four cases with oligozoospermia and four cases with normozoospermia had chromosomal abnormalities. The 75 men with proven fertility were genetically normal. We conclude that various chromosomal abnormalities and deletions of the Y chromosome can cause infertility; therefore, genetic screening is indicated for infertile patients.

Download full-text PDF

Source
http://dx.doi.org/10.4238/vol8-3gmr616DOI Listing

Publication Analysis

Top Keywords

chromosomal abnormalities
12
patients severe
8
male factor
8
chromosome microdeletions
8
infertile patients
8
genetic anomalies
4
patients
4
anomalies patients
4
severe oligozoospermia
4
oligozoospermia azoospermia
4

Similar Publications

Depletion of TP53 in Human Pluripotent Stem Cells Triggers Malignant-Like Behavior.

Adv Biol (Weinh)

January 2025

Anatomy and Physiology, Department Clinical Sciences, Faculty of Veterinary Medicine, Utrecht University, Utrecht, 3584 CL, The Netherlands.

Human pluripotent stem cells (hPSCs) tend to acquire genetic aberrations upon culture in vitro. Common aberrations are mutations in the tumor suppressor TP53, suspected to confer a growth-advantage to the mutant cells. However, their full impact in the development of malignant features and safety of hPSCs for downstream applications is yet to be elucidated.

View Article and Find Full Text PDF

Chromosome aberrations and autoimmunity: Immune-mediated diseases associated with 18p deletion and other chromosomal aberrations.

Autoimmun Rev

January 2025

Division of Rheumatology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil; Fleury Medicine and Health, Fleury Group, São Paulo, SP, Brazil. Electronic address:

Recent advances in genomic methodologies have significantly enhanced our understanding of immune-mediated rheumatic diseases. Specific structural variants (SVs), such as substantial DNA deletions or insertions, including chromosomal aberrations, have been implicated in diseases of immune dysregulation. Regrettably, SVs are frequently overlooked in next-generation sequencing (NGS) targeted-gene panels, whole exome sequencing (WES) and whole genome sequencing (WGS).

View Article and Find Full Text PDF

Introduction: Genome-wide non-invasive prenatal testing (gwNIPT) has screening limitations for detectable genetic conditions and cannot detect microdeletions/microduplications (MD) or triploidy. Nuchal translucency (NT) increases with gestation and with genetic or structural abnormalities. This study aims to determine the utility of NT measurement in detecting genetic abnormalities not identified by gwNIPT and the optimal NT threshold value.

View Article and Find Full Text PDF

Lateral Meningocele Syndrome (LMS), a disorder associated with NOTCH3 pathogenic variants, presents with neurological, craniofacial and skeletal abnormalities. Mouse models of the disease exhibit osteopenia that is ameliorated by the administration of Notch3 antisense oligonucleotides (ASO) targeting either Notch3 or the Notch3 mutation. To determine the consequences of LMS pathogenic variants in human cells and whether they can be targeted by ASOs, induced pluripotent NCRM1 and NCRM5 stem (iPS) cells harboring a NOTCH36692-93insC insertion were created.

View Article and Find Full Text PDF

Background: Structural variation (SV), defined as balanced and unbalanced chromosomal rearrangements >1 kb, is a major contributor to germline and neoplastic disease. Large variants have historically been evaluated by chromosome analysis and now are commonly recognized by chromosomal microarray analysis (CMA). The increasing application of genome sequencing (GS) in the clinic and the relatively high incidence of chromosomal abnormalities in sick newborns and children highlights the need for accurate SV interpretation and reporting.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!