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Mutation Analysis of 17α-Hydroxylase

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 2004 by National Taiwan University Hospital.
Recruitment status was:  Recruiting
Information provided by:
National Taiwan University Hospital Identifier:
First received: September 12, 2005
Last updated: NA
Last verified: August 2004
History: No changes posted
To elucidate the molecular pathology of the 4 families with 17α-hydroxylase/17,20-lyase deficiency.

Condition Intervention
Pseudohermaphroditism Congenital Adrenal Hyperplasia Hypertension 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: 25
Study Start Date: August 2004
Estimated Study Completion Date: August 2005
Detailed Description:

17α-hydroxylase is a rare form of congenital adrenal hyperplasia. Patients with complete 17α-hydroxylase deficiency may come to attention to the doctor at their early adulthood due to hypertension or disordered puberty. 17α-hydroxylase is a form of cytochrome P450 enzyme in the adrenal cortex for the production of cortisol, while 17,20-lyase is required in both adrenal glands and the gonads for the production of androgen precursors of sex hormones. Therefore, patients with 17α-hydroxylase will presented with elevated deoxycorticosterone (DOC) level and decreased aldosterone and cortisol level. Because DOC is the second most important naturally occurring mineralocorticoid hormone, hypertension and hypokalemic alkalosis will be noted in these patients. Besides, deficiency of 17,20-lyase activity will lead to impairment of virilization in 46 XY patients and deficient estrogen production in 46 XX patients.

The P450c17 has both 17α-hydroxylase and 17,20-lyase activity and are encoded by the CYP17 gene. The sequence of CYP17 gene was established in 1987 and more than 40 mutations were identified till now. The purpose of this study is to elucidate the molecular pathology of the 4 families with 17α-hydroxylase/17,20-lyase deficiency.


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

Inclusion Criteria:

  • Patients with 17α-hydroxylase deficiency and their family

Exclusion Criteria:

  Contacts and Locations
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Please refer to this study by its identifier: NCT00172510

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: NCT00172510     History of Changes
Other Study ID Numbers: 9361701060
Study First Received: September 12, 2005
Last Updated: September 12, 2005

Additional relevant MeSH terms:
Adrenal Hyperplasia, Congenital
Adrenogenital Syndrome
Disorders of Sex Development
Pathologic Processes
Urogenital Abnormalities
Congenital Abnormalities
Genetic Diseases, Inborn
Steroid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases
Adrenal Gland Diseases
Endocrine System Diseases
Gonadal Disorders processed this record on September 21, 2017