Disease Directory 46,XY difference of sex development due to testicular 17,20-desmolase deficiency
Rare Disease

46,XY difference of sex development due to testicular 17,20-desmolase deficiency

Type

Disease

Gene

AKR1C2, AKR1C4

About 46,XY difference of sex development due to testicular 17,20-desmolase deficiency

46,XY difference of sex development due to testicular 17,20-desmolase deficiency is a rare disease catalogued by Orphanet (ORPHA:443087). It is associated with the AKR1C2, AKR1C4 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,XY difference of sex development due to testicular 17,20-desmolase deficiency trials.

Search ClinicalTrials.gov for "46,XY difference of sex development due to testicular 17,20-desmolase deficiency" or filter by Orphanet code ORPHA:443087 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:443087)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting 46,XY difference of sex development due to testicular 17,20-desmolase deficiency trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for 46,XY difference of sex development due to testicular 17,20-desmolase deficiency. Updated daily.