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mixed gonadal dysgenesis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

mixed gonadal dysgenesis

MONDO:0001969

Also known as:gonadal dysgenesis mixed

Overview

A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.

Diagnosis

Biomarker and diagnostic research for mixed gonadal dysgenesis has been reported in the published literature.

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 mixed gonadal dysgenesis.

21 publications have been identified in PubMed for mixed gonadal dysgenesis. Research spans Case Report / Case Series (38%), Epidemiology / Natural History (38%), and Diagnostic / Biomarker (10%).

Research Type	Count	% of Total
Patient case studies	8	38%

Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

GARD

Genetic and Rare Diseases Info Center

GARD:2539

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mixed gonadal dysgenesis

Overview

Diagnosis

Research Landscape

Medical References

External Resources

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications