Evidence mapPaperPMID 41595460Full record

ReviewGenes2025

Genetic, Epigenetic, and Non-Genetic Factors in Testicular Dysgenesis Syndrome: A Narrative Review.

Alessandro Ciarloni, Nicola Delli Muti, Sara Sacco, Nicola Ambo, Valentina Di Giacomi, Michele Perrone, Silvia Rossi, Marinella Balercia, Gianmaria Salvio, Giancarlo Balercia

Abstract readReview
In one paragraph

Review in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
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

2 citing papers in PubMed.

  1. Article
  2. Article
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

10 authors.

Alessandro CiarloniEndocrinology Clinic, Department of Clinical and Molecular Sciences, Polytechnic University of Marche, 60126 Ancona, Italy.ORCID 0009-0000-4945-6437
Nicola Delli MutiEndocrinology Clinic, Department of Clinical and Molecular Sciences, Polytechnic University of Marche, 60126 Ancona, Italy.
Sara SaccoEndocrinology Clinic, Department of Clinical and Molecular Sciences, Polytechnic University of Marche, 60126 Ancona, Italy.
Nicola AmboEndocrinology Clinic, Department of Clinical and Molecular Sciences, Polytechnic University of Marche, 60126 Ancona, Italy.ORCID 0009-0008-0061-7349
Valentina Di GiacomiEndocrinology Clinic, Department of Clinical and Molecular Sciences, Polytechnic University of Marche, 60126 Ancona, Italy.
Michele PerroneEndocrinology Clinic, Department of Clinical and Molecular Sciences, Polytechnic University of Marche, 60126 Ancona, Italy.
Silvia RossiEndocrinology Clinic, Department of Clinical and Molecular Sciences, Polytechnic University of Marche, 60126 Ancona, Italy.
Marinella BalerciaCDL Biomedical Laboratory Techniques, DADP Degree Courses, Azienda Ospedaliero Universitaria delle Marche, Faculty of Medicine and Surgery, Polytechnic University of Marche, 60126 Ancona, Italy.
Gianmaria SalvioEndocrinology Clinic, Department of Clinical and Molecular Sciences, Polytechnic University of Marche, 60126 Ancona, Italy.ORCID 0000-0001-9290-5699
Giancarlo BalerciaEndocrinology Clinic, Department of Clinical and Molecular Sciences, Polytechnic University of Marche, 60126 Ancona, Italy.ORCID 0000-0003-1286-1521

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundTesticular dysgenesis syndrome (TDS) is a complex disorder of the male reproductive system related to disfunction of the fetal testis. The clinical features of TDS may be evident at birth or infancy (cryptorchidism, hypospadias and/or reduced anogenital distance) or occur later in adulthood (testis cancer, infertility). Genetic background seems to be important for genetic predisposition, with new genes being associated with components of the syndrome in last years. Interestingly, the incidence of clinical manifestations of TDS has been increasing in many countries in recent decades, suggesting that genetic predisposition alone cannot explain this trend. Consequently, the hypothesis of multifactorial etiopathogenesis is becoming increasingly accepted nowadays, with environmental factors probably acting during early developmental stages in genetically predisposed individuals.

methodsIn this narrative review, we aim to critically evaluate genetic and non-genetic factors involved in the pathogenesis of TDs.

resultsImportant associations with intrauterine growth disorders and maternal diseases (overweight/obesity and diabetes) as well as lifestyle factors (e.g., smoking and alcohol abuse) were found. In such context, endocrine disruptors probably play a major role. These substances are widely used in industry and can exert estrogenic and antiandrogenic effects, potentially interfering with the development of the fetal gonad.

conclusionsConsidering their possible impact on male sexual health, more attention should be focused on maternal modifiable factors to confirm with prospective studies the mixed results of available evidence.

Indexed as

Epigenesis, GeneticGonadal DysgenesisCryptorchidismFemaleGenetic Predisposition to DiseaseHumansMaleTestisanogenital distancecryptorchidismendocrine disruptorshypospadiastesticular dysgenesis syndrometestis cancer

Identifiers

PMID41595460
PMCPMC12841294

What Socratic 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 Socratic graph.