ArticleJournal of medical genetics2019
Familial bilateral cryptorchidism is caused by recessive variants in
Article in Journal of medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Identification of risk loci for primary aldosteronism in genome-wide association studies.Nature communications · 2022Pooled it
- Cryptorchidism: Novel genetic insights into CCDC149 mutations.Andrology · 2026Article
- Review
- Identification of key genes related to unilateral cryptorchidism in sheep by comprehensive transcriptomics and proteomics analyses.BMC genomics · 2025Article
- Short communication: exploring genetic associations with cryptorchidism in Wagyu cattle.Journal of animal science · 2025Article
- Article
- Novel mutation leading to splice donor loss in a conserved site ofJournal of medical genetics · 2024Article
- Achieving an optimal pregnancy outcome through the combined utilization of micro-TESE and ICSI in cryptorchidism associated with a non-canonical splicing variant in RXFP2.Journal of assisted reproduction and genetics · 2024Article
- [Hormonal and genetic causes of cryptorchidism].Problemy endokrinologii · 2023Article
- Discovery of small molecule agonists of the Relaxin Family Peptide Receptor 2.Communications biology · 2022Article
- The Fate of Leydig Cells in Men with Spermatogenic Failure.Life (Basel, Switzerland) · 2022Review
- Article
- Diverse functions of insulin-like 3 peptide.The Journal of endocrinology · 2020Review
- Mass Spectrometry Supports That the Structure of Circulating Human Insulin-Like Factor 3 Is a Heterodimer.Frontiers in endocrinology · 2020Article
- RXFP2 as novel potential biomarker for abnormal differentiation induced by diethylstilbestrol in the gubernaculum of fetal mice.American journal of translational research · 2020Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCryptorchidism or failure of testicular descent is the most common genitourinary birth defect in males. While both the insulin-like peptide 3 (INSL3) and its receptor, relaxin family peptide receptor 2 (RXFP2), have been demonstrated to control testicular descent in mice, their link to human cryptorchidism is weak, with no clear cause-effect demonstrated.
objectiveTo identify the genetic cause of a case of familial cryptorchidism.
methodsWe recruited a family in which four boys had isolated bilateral cryptorchidism. A fourth-degree consanguineous union in the family was reported. Whole exome sequencing was carried out for the four affected boys and their parents, and variants that segregated with the disorder and had a link to testis development/descent were analysed. Functional analysis of a
resultsGenomic analysis revealed a homozygous missense variant in the
conclusionThis is the first reported genomic analysis of a family with multiple individuals affected with cryptorchidism. It demonstrates that recessive variants in the
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Registered trials
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