ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2017
MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 59 citations in OpenAlex.
- Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.American journal of human genetics · 2026Article
- Generation and characterization of a Cre-inducible MAP3K1 gain-of-function model.Disease models & mechanisms · 2026Article
- Functional Validation of a Novel <italic>PBX1</italic> Missense Variant in a 46,XY Girl.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Article
- A novel variant in theMolecular medicine reports · 2025Article
- An Infant WithJCEM case reports · 2025Article
- A disease-associated PPP2R3C-MAP3K1 phospho-regulatory module controls centrosome function.Current biology : CB · 2024Article
- Article
- Genome-wide association study identifies genomic regions associated with key reproductive traits in Korean Hanwoo cows.BMC genomics · 2024Article
- A disease-associated PPP2R3C-MAP3K1 phospho-regulatory module controls centrosome function.bioRxiv : the preprint server for biology · 2024Article
- MAP3K1 regulates female reproductive tract development.Disease models & mechanisms · 2024Article
- A Risk of Gonadoblastoma in Familial Swyer Syndrome-A Case Report and Literature Review.Journal of clinical medicine · 2024Review
- Genetic control of typical and atypical sex development.Nature reviews. Urology · 2023Review
- Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients.Biomedicines · 2023Article
- Identification of a novelMolecular medicine reports · 2022Article
- Article
- Review
- Rupture and hemorrhage of a seminoma mixed with yolk sac tumors in 46XY partial gonadal dysgenesis: a case report and literature review.BMC surgery · 2021Review
- Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1.Orphanet journal of rare diseases · 2021Article
- Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis.European journal of human genetics : EJHG · 2021Article
- A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review.Molecular genetics & genomic medicine · 2020Review
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex-determining genes. MAP3K1 encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common genes responsible for 46,XY DSD presenting as complete or partial gonadal dysgenesis. Clinical assessment, endocrine evaluation, and genetic analysis were performed in six individuals from four unrelated families with 46,XY DSD. All six individuals were found to have likely pathogenic MAP3K1 variants. Three of these individuals presented with complete gonadal dysgenesis, characterized by bilateral streak gonads with typical internal and external female genitalia, while the other three presented with partial gonadal dysgenesis, characterized by incomplete testicular development, resulting in clitoral hypertrophy with otherwise typical female external genitalia. Testing for MAP3K1 variants should be considered in patients with 46,XY complete or partial gonadal dysgenesis, particularly in families with multiple members affected with 46,XY DSD. Identification of a MAP3K1 variant should prompt an evaluation for DSD in female siblings of the proband.
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Registered trials
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.