ArticleThe Journal of international medical research2018
Multicenter study of genetic abnormalities associated with severe oligospermia and non-obstructive azoospermia.
Article in The Journal of international medical research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 34 citations in OpenAlex.
- A Combined Approach: Karyotyping and QF-PCR for Comprehensive Genetic Screening in Male Infertility.Biochemical genetics · 2026Article
- A novel hemizygous missense variant in the BEND2 gene is associated with nonobstructive azoospermia.Asian journal of andrology · 2026Article
- Circulating microRNAs in Body Fluid: "Fingerprint" RNA Snippets Deeply Impact Reproductive Biology.Reproductive sciences (Thousand Oaks, Calif.) · 2025Review
- A novel loss-of-functionFrontiers in genetics · 2025Article
- Global Practice Patterns and Variations in the Medical and Surgical Management of Non-Obstructive Azoospermia: Results of a World-Wide Survey, Guidelines and Expert Recommendations.The world journal of men's health · 2025Article
- Environmental and Genetic Traffic in the Journey from Sperm to Offspring.Biomolecules · 2023Review
- Y chromosome microdeletions in Chinese men with infertility: prevalence, phenotypes, and intracytoplasmic sperm injection outcomes.Reproductive biology and endocrinology : RB&E · 2023Article
- Article
- Novel mutations ofFrontiers in endocrinology · 2023Article
- Genetic Implications of Male-Reproductive-Health-Associated Comorbidities.Turkish journal of urology · 2022Article
- Unilateral Kidney Agenesis and other Kidney Anomalies in Infertile Men with Congenital Bilateral Absence of Vas deferens: A Cross-Sectional Study.International journal of fertility & sterility · 2022Article
- Seminal exosomes - An important biological marker for various disorders and syndrome in human reproduction.Saudi journal of biological sciences · 2021Review
- Y chromosome microdeletion and cytogenetic findings in male infertility: A cross-sectional descriptive study.International journal of reproductive biomedicine · 2021Article
- Altered Gene Expression in the Testis of Infertile Patients with Nonobstructive Azoospermia.Computational and mathematical methods in medicine · 2021Article
- Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China.Journal of clinical laboratory analysis · 2020Article
- Genetic and sex hormone analysis of infertile men.The Journal of international medical research · 2020Article
- Recent advances and future opportunities to diagnose male infertility.Current sexual health reports · 2019Article
- Molecular and cytogenetic analysis of infertile Hakka men with azoospermia and severe oligozoospermia in southern China.The Journal of international medical research · 2019Observational
- Intracytoplasmic sperm injection outcome of ejaculated spermatozoa from a man with mosaic Klinefelter's Syndrome: case report and literature review.The Journal of international medical research · 2018Review
- Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure.Asian journal of andrologyArticle
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective * Chong Xie, Xiangfeng Chen, and Yulin Liu contributed equally to this work. Genetic defects are identified in nearly 20% of infertile males. Determining the frequency and types of major genetic abnormalities in severe male infertility helps inform appropriate genetic counseling before assisted reproductive techniques. Methods Cytogenetic results of 912 patients with non-obstructive azoospermia (NOA) and severe oligozoospermia (SOS) in Eastern China were reviewed in this multicenter study from January 2011 to December 2015. Controls were 215 normozoospermic men with offspring. Results Among all patients, 22.6% (206/912) had genetic abnormalities, including 27.3% (146/534) of NOA patients and 15.9% (60/378) of SOS patients. Chromosomal abnormalities (all autosomal) were detected in only 1.9% (4 /215) of controls. In NOA patients, sex chromosomal abnormalities were identified in 25.8% (138/534), of which 8% (43/534) had a 47,XXY karyotype or its mosaic; higher than the SOS group prevalence (1.1%; 4/378). The incidence of Y chromosome microdeletions was lower in the SOS group (13.2%; 50/378) than in the NOA group (17.8%; 95/534). Conclusions The high prevalence of genetic abnormalities in our study indicates the importance of routine genetic testing in severe male infertility diagnosis. This may help determine the choice of assisted reproductive technique and allow specific pre-implantation genetic testing to minimize the risk of transmitting genetic defects.
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