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mullerian aplasia and hyperandrogenism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mullerian aplasia and hyperandrogenism

MONDO:0008019

Also known as:Mullerian duct failure and hyperandrogenismMüllerian duct failure and hyperandrogenismWNT4 Deficiency

Overview

Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina.

GeneticsAutosomal dominant · WNT4 (chr 1)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Aplasia of the fallopian tube, Unilateral renal agenesis, Aplasia of the uterus, and Aplasia of the vagina and others; and very common findings: Hirsutism. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	2	Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androstenedione concentration

Genetic Landscape

WNT4 function has not been fully characterized.

Mullerian aplasia and hyperandrogenism is associated with mutations in the WNT4 gene on chromosome 1.

Diagnosis

Genetic testing for WNT4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 1 very common feature.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for mullerian aplasia and hyperandrogenism.

2 publications have been identified in PubMed for mullerian aplasia and hyperandrogenism. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Hernández-García A (2026). [PMID: 40992710](https://pubmed.ncbi.nlm.nih.gov/40992710/). *Dev Biol*. [Basic Science / Preclinical]
Yavas Abalı Z (2024). [PMID: 38812815](https://pubmed.ncbi.nlm.nih.gov/38812815/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:158330

Orphanet

European rare disease database

Orphanet:247768

GARD

Genetic and Rare Diseases Info Center

GARD:17195

Questions for Your Care Team

→Should I pursue genetic testing for WNT4, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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mullerian aplasia and hyperandrogenism

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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