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Mutation Analysis of 17βhydroxysteroid Dehydrogenase 3 Deficiency

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified August 2005 by National Taiwan University Hospital.
Recruitment status was:  Recruiting
Information provided by:
National Taiwan University Hospital Identifier:
First received: September 12, 2005
Last updated: December 20, 2005
Last verified: August 2005
To disclose the molecular pathology of our 3 families with 17βHSD3 deficiency.

Condition Intervention
Pseudohermaphroditism Procedure: blood drawing

Study Type: Observational
Study Design: Observational Model: Defined Population
Primary Purpose: Screening
Time Perspective: Cross-Sectional
Time Perspective: Retrospective

Resource links provided by NLM:

Further study details as provided by National Taiwan University Hospital:

Estimated Enrollment: 20
Study Start Date: August 2005
Estimated Study Completion Date: August 2006
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, XY males were reported in the literature, and no such case has been reported in Taiwan before. The 46, XY patients have ambiguious or complete female external genitalia. They are mostly unrecognized at birth and reared as female. They often draw medical attention when they receive operation for inguinal hernia or during puberty, clitoromegaly and musculization were noticed. However, the homozygous or compound heterozygous genetic females are asymptomatic. The 17βHSD3 catalyze the conversion of androstenedione to testosterone, the last step in the synthesis of testosterone. Therefore, the serum levels of androstenedione are elevated and testosterone or dihydrotestosterone are in the low range in these affected 46, XY individuals. The clinical diagnosis is made by HCG stimulation test, because androstenedione-to-testosterone ratio is abnormally elevated in these patients. But the molecular basis of 17βHSD3 deficiency was not determined till recent decade.

The HSD17B3 gene was elucidated in 1994, and composed of 11 exons. Several missence mutation and splice mutation were identified. But the precise action and tissue distribution of 17βHSD3 still need to be clarified. The Wölffian ducts virilze normally in the embryonic stage and the serum concentration of testosterone achieve to the normal range in the pubertal stage. The exact mechanism is not understood clearly and peripheral conversion under other isozymes was suggested in some studies.

The purpose of this study is to disclose the molecular pathology of our 3 families with 17βHSD3 deficiency.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Inclusion Criteria:

  • Patients with 17β-hydroxysteroid dehydrogenase 3 deficiency and their family
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00173654

Contact: Yi-Ching Tung, MD 886-2-23123456 ext 5130

National Taiwan University Hospital Recruiting
Taipei, Taiwan
Contact: Yi-Ching Tung, MD    886-2-23123456 ext 5130   
Sponsors and Collaborators
National Taiwan University Hospital
Principal Investigator: Yi-Ching Tung, MD National Taiwan University Hospital
  More Information Identifier: NCT00173654     History of Changes
Other Study ID Numbers: 9461700825
Study First Received: September 12, 2005
Last Updated: December 20, 2005

Additional relevant MeSH terms:
Disorders of Sex Development
Urogenital Abnormalities
Congenital Abnormalities
Gonadal Disorders
Endocrine System Diseases processed this record on September 21, 2017