Disease Directory 46,XX gonadal dysgenesis
Rare Disease

46,XX gonadal dysgenesis

Type

Malformation syndrome

Gene

NR5A1, FIGLA, MRPS22, FSHR, BMP15, PSMC3IP

About 46,XX gonadal dysgenesis

46,XX gonadal dysgenesis is a rare disease catalogued by Orphanet (ORPHA:243). It is associated with the NR5A1, FIGLA, MRPS22 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 gonadal dysgenesis trials.

Search ClinicalTrials.gov for "46,XX gonadal dysgenesis" or filter by Orphanet code ORPHA:243 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:243)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting 46,XX gonadal dysgenesis trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for 46,XX gonadal dysgenesis. Updated daily.