Evidence map›Paper›PMID 37723288›Full record

ReviewNature reviews. Urology2024

Improved phenotypic classification of male infertility to promote discovery of genetic causes.

Margot J Wyrwoll, Godfried W van der Heijden, Csilla Krausz, Kenneth I Aston, Sabine Kliesch, Robert McLachlan, Liliana Ramos, Donald F Conrad, Moira K O'Bryan, Joris A Veltman and 1 more

Open access · greenAbstract readReview
In one paragraph

Review in Nature reviews. Urology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed, 1 pooled it
10.9field-weighted citation impact, top 1% of its field
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

31 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.

  1. Pooled it
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  15. Fertility test of mice (Bio-protocol · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 8 institutions in 7 countries.

Margot J Wyrwoll *Institute of Reproductive Genetics, University of Münster, Münster, Germany.ORCID 0000-0002-7651-2403
Godfried W van der Heijden *Department of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, Netherlands.ORCID 0000-0001-5894-7027
Csilla KrauszDepartment of Biomedical, Experimental and Clinical Sciences "Mario Serio", University of Florence, University Hospital of Careggi (AOUC), Florence, Italy.ORCID 0000-0001-6748-8918
Kenneth I AstonAndrology and IVF Laboratory, Department of Surgery (Urology), University of Utah, Salt Lake City, UT, USA.ORCID 0000-0001-6459-2103
Sabine KlieschCentre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University of Münster, Münster, Germany.
Robert McLachlanDepartment of Clinical Research, Hudson Institute of Medical Research, Melbourne, Victoria, Australia.
Liliana RamosDepartment of Obstetrics and Gynecology, Radboud University Medical Center, Nijmegen, Netherlands.ORCID 0000-0002-4269-013X
Donald F ConradDepartment of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, USA.ORCID 0000-0003-3828-8970
Moira K O'BryanSchool of BioSciences and Bio21 Institute, The University of Melbourne, Parkville, Victoria, Australia.ORCID 0000-0001-7298-4940
Joris A VeltmanBiosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.ORCID 0000-0002-3218-8250
Frank TüttelmannInstitute of Reproductive Genetics, University of Münster, Münster, Germany. frank.tuettelmann@ukmuenster.de.ORCID 0000-0003-2745-9965
University of Münster · DERadboud University Nijmegen · NLHudson Institute of Medical Research · AUNewcastle University · GBOregon National Primate Research Center · USThe University of Melbourne · AUUniversity of Florence · ITUniversity of Utah · US

Funding

Project IIIP50HD096723 · NICHD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Kyle Edwin Orwig · 2019 to 2026
$15.0M
GENOMICS OF SPERMATOGENIC IMPAIRMENTR01HD078641 · NICHD · WASHINGTON UNIVERSITY · PI Kenneth Ivan Aston, DONALD F. CONRAD · 2014 to 2026
$6.3M
NICHD NIH HHS P50 HD096723NICHD NIH HHS R01 HD078641
6 · The paper itself

Abstract

An increasing number of genes are being described in the context of non-syndromic male infertility. Linking the underlying genetic causes of non-syndromic male infertility with clinical data from patients is important to establish new genotype-phenotype correlations. This process can be facilitated by using universal nomenclature, but no standardized vocabulary is available in the field of non-syndromic male infertility. The International Male Infertility Genomics Consortium aimed at filling this gap, providing a standardized vocabulary containing nomenclature based on the Human Phenotype Ontology (HPO). The "HPO tree" was substantially revised compared with the previous version and is based on the clinical work-up of infertile men, including physical examination and hormonal assessment. Some causes of male infertility can already be suspected based on the patient's clinical history, whereas in other instances, a testicular biopsy is needed for diagnosis. We assembled 49 HPO terms that are linked in a logical hierarchy and showed examples of morphological features of spermatozoa and testicular histology of infertile men with identified genetic diagnoses to describe the phenotypes. This work will help to record patients' phenotypes systematically and facilitate communication between geneticists and andrologists. Collaboration across institutions will improve the identification of patients with the same phenotypes, which will promote the discovery of novel genetic causes for non-syndromic male infertility.

Indexed as

Infertility, MaleGenomicsHumansMalePhenotypeSpermatozoaTestis

Identifiers

PMID37723288
PMCPMC12126855
OpenAlexW4386825750

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.