Disease Directory 46,XX testicular difference of sex development
Rare Disease

46,XX testicular difference of sex development

Type

Malformation syndrome

Gene

SOX9, SRY, SOX3, NR0B1, NR5A1

About 46,XX testicular difference of sex development

46,XX testicular difference of sex development is a rare disease catalogued by Orphanet (ORPHA:393). It is associated with the SOX9, SRY, SOX3 genes. Search below for active recruiting clinical trials from ClinicalTrials.gov, or visit the Orphanet expert page for specialist centres, natural history studies, and patient registries.

Clinical Trial Eligibility Tips

What to know before applying to 46,XX testicular difference of sex development trials.

Search ClinicalTrials.gov for "46,XX testicular difference of sex development" or filter by Orphanet code ORPHA:393 to find disease-specific studies.

Ask your specialist to refer you to a Centre of Expertise — Orphanet lists all accredited centres for this condition worldwide.

Natural history studies and patient registries often enrol before drug trials open — contact the Orphanet patient community first.

Patient Resources

Patient Organization

Orphanet

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Orphanet

European reference resource for rare diseases (ORPHA:393)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting 46,XX testicular difference of sex development trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for 46,XX testicular difference of sex development. Updated daily.