Evidence map›Paper›PMID 40951413›Full record

SynthesisFrontiers in endocrinology2025

A systematic review and evidence assessment of monogenic gene-disease relationships in human male infertility.

Qian Zhao, Huifang Peng, Jiali Chen, Hui Zhang, Yujin Ma, Hongwei Jiang

Erratum issuedAbstract readSystematic Review
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Frontiers in endocrinology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Review
  4. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors.

Qian ZhaoLuoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.
Huifang PengLuoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.
Jiali ChenLuoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.
Hui ZhangLuoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.
Yujin MaLuoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.
Hongwei JiangLuoyang Key Laboratory of Clinical Multiomics and Translational Medicine, Henan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Genetic factors play a significant role in human male infertility, with about 4% of infertile men currently identified with genetic reasons, yet most (60-70%) still lack a definitive diagnosis and remain unexplained. Similar to other medical fields, the advent of next-generation sequencing (NGS) has resulted in the discovery of a growing array of genetic variations in infertility issues affecting both genders. With the rising count of newly discovered genes, precise diagnoses are now possible for cases of male infertility that were once considered idiopathic. Nonetheless, substantial proof supporting the gene-disease relationships (GDR) remains absent in numerous instances. Objective and rationale: The year 2019 and 2021 saw the release and revision of the standardized clinical validity evaluation for monogenic reasons behind male infertility. In this report, we offer an extensive review to methodically assess all existing data (spanning from 1 Jan, 2020, to 24 Sep, 2024) regarding the singular causes of either isolated or syndromic male infertility, hormonal imbalances, or reproductive irregularities in male reproductive organs. Search method: The PRISMA protocols were utilized to gather comprehensive data from PubMed and Web of Science regarding the genetics of human male infertility and disorders of sex development (DSD) resulting in infertility, spanning from 1 January 2020 to 24 September 2024. The pathologies examined encompass both isolated infertility and syndromic male infertility, along with disorders of the endocrine and reproductive systems. A standardized scoring system was used to evaluate whether pathogenic variations in a particular gene lead to a recognized phenotype. Each GDR received a conclusive rating, ranging from no evidence to definitive. Outcomes: Out of 19885 identified and screened publications, 229 were chosen for gene and variant analysis. Our research has pinpointed 191 genes and confirmed 191 GDRs, encompassing all documented single-gene reasons for male infertility and DSD. Additionally, our research pinpointed 100 genes with at least a moderate connection to male infertility or atypical genitourinary development traits. The study did not take into account associated genetic risk factor(s) or oligogenic/polygenic causes of male infertility. Systematic review registration: http://www.crd.york.ac.uk/PROSPERO, identifier CRD42024593082.

Indexed as

Genetic Predisposition to DiseaseInfertility, MaleHumansMalegene-disease relationshipmale infertilitymonogenicnext-generation sequencingsystematic review

Identifiers

PMID40951413
PMCPMC12422931

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.