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polycystic ovaries-urethral sphincter dysfunction syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polycystic ovaries-urethral sphincter dysfunction syndrome

MONDO:0017200

Also known as:fowler-Christmas-Chapple syndromefowler's syndromepolycystic ovaries urethral sphincter dysfunction

Overview

Polycystic ovaries-urethral sphincter dysfunction syndrome is characterized by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries.

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 common findings: Polycystic ovaries, Abnormality of the urethra, Abnormal electrical muscle activity (EMG) (emg abnormality), and Dysuria; and sometimes findings: Urinary retention, Oligomenorrhea, Hirsutism, and Acne. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	2	Urinary retention, Urinary incontinence

Prognosis

Phenotype severity distribution: 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 polycystic ovaries-urethral sphincter dysfunction syndrome.

17 publications have been identified in PubMed for polycystic ovaries-urethral sphincter dysfunction syndrome. Research spans Review / Meta-Analysis (35%), Case Report / Case Series (35%), and Clinical Trial Publication (12%).

Research Type	Count	% of Total
Research summaries	6	35%

Data assembled from 4 of 12 sources · Last updated Nov 4, 2026, 10:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2795

GARD

Genetic and Rare Diseases Info Center

GARD:2365

Questions for Your Care Team

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Kisho

polycystic ovaries-urethral sphincter dysfunction syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Nicotinamide mononucleotide supplementation improves polycystic ovary syndrome by activating silent regulatory protein 2 mediated lactate dehydrogenase A lysine 119 deacetylation to enhance glycolytic activity.

Bootleg Retatrutide Deaths? PMOS and Dementia; Weight-Loss Drug to Be Discontinued | MedPage Today

polycystic ovaries-urethral sphincter dysfunction syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

Nicotinamide mononucleotide supplementation improves polycystic ovary syndrome by activating silent regulatory protein 2 mediated lactate dehydrogenase A lysine 119 deacetylation to enhance glycolytic activity.

Bootleg Retatrutide Deaths? PMOS and Dementia; Weight-Loss Drug to Be Discontinued | MedPage Today