Status:

UNKNOWN

Mutation Analysis of 17βhydroxysteroid Dehydrogenase 3 Deficiency

Lead Sponsor:

National Taiwan University Hospital

Conditions:

Pseudohermaphroditism

Eligibility:

All Genders

Brief Summary

To disclose the molecular pathology of our 3 families with 17βHSD3 deficiency.

Detailed Description

17βhydroxysteroid dehydrogenase 3 (17βHSD3) deficiency is a rare cause of male pseudohermaphroditism. The incidence is reported to be 1: 147,000 in the Netherlands. Fewer than one hundred affected 46,...

Eligibility Criteria

Inclusion

  • Inclusion Criteria:
  • Patients with 17β-hydroxysteroid dehydrogenase 3 deficiency and their family

Exclusion

    Key Trial Info

    Start Date :

    August 1 2005

    Trial Type :

    OBSERVATIONAL

    End Date :

    August 1 2006

    Estimated Enrollment :

    20 Patients enrolled

    Trial Details

    Trial ID

    NCT00173654

    Start Date

    August 1 2005

    End Date

    August 1 2006

    Last Update

    December 21 2005

    Active Locations (1)

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    Page 1 of 1 (1 locations)

    1

    National Taiwan University Hospital

    Taipei, Taiwan