46,XY disorder of sex development | Kisho | Kisho

46,XY disorder of sex development

Rare Disease

MONDO:0020040

Also known as:

46,XY DSD46,XY differences of Sex development46,XY disorders of Sex development

Differences of sex development in individuals with 46,XY karyotype.

Genes

Clinical Trials

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Newborn Screening

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Patient Groups

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Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Feb 7, 2026

Associated Genes

9 genes

WT1 DHH TSPYL1 CYP11A1 HHAT HSD17B3 AR ATRX SRD5A2

Gene data from HGNC • Click to view on NCBI Gene

Associated Genes

9 genes

WT1 DHH TSPYL1 CYP11A1 HHAT HSD17B3 AR ATRX SRD5A2

Gene data from HGNC • Click to view on NCBI Gene

Overview

46,XY disorder of sex development refers to differences of sex development in individuals with a 46,XY karyotype. This term is used to describe various conditions where the typical process of sexual development may not follow expected patterns. It serves as an umbrella description for a range of presentations in chromosomal, gonadal, or anatomical sex development.

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

Information about causes is currently limited for this condition.

Treatment & Management

Information about treatment is currently limited for this condition.

Prognosis & Outlook

Information about prognosis is currently limited for this condition.

Research & Clinical Trials

Information about research is currently limited for this condition.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

9 genes

WT1 DHH TSPYL1 CYP11A1 HHAT HSD17B3 AR ATRX SRD5A2

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Support

External Resources

Orphanet

European rare disease database

Orphanet:98085

GARD

Genetic and Rare Diseases Info Center

GARD:8538

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46,XY disorder of sex development

Patient-Friendly Information

Associated Genes

Associated Genes

Overview

Overview

Symptoms & Signs

Causes & Risk Factors

Treatment & Management

Prognosis & Outlook

Research & Clinical Trials

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Support

External Resources

Orphanet

GARD

Related Diseases

Know a Patient Advocacy Group for this condition?

Need this data in your product?