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Mutation Analysis of 17α-Hydroxylase

NCT ID: NCT00172510

Last Updated: 2005-09-15

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

25 participants

Study Classification

OBSERVATIONAL

Study Start Date

2004-08-31

Study Completion Date

2005-08-31

Brief Summary

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To elucidate the molecular pathology of the 4 families with 17α-hydroxylase/17,20-lyase deficiency.

Detailed Description

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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.

Conditions

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Pseudohermaphroditism Congenital Adrenal Hyperplasia Hypertension

Study Design

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Observational Model Type

DEFINED_POPULATION

Study Time Perspective

OTHER

Interventions

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blood drawing

Intervention Type PROCEDURE

Eligibility Criteria

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Inclusion Criteria

* Patients with 17α-hydroxylase deficiency and their family

Exclusion Criteria

\-
Minimum Eligible Age

0 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Taiwan University Hospital

OTHER

Sponsor Role lead

Principal Investigators

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Yi-Ching Tung, MD

Role: PRINCIPAL_INVESTIGATOR

National Taiwan University Hospital

Locations

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National Taiwan University Hospital

Taipei, , Taiwan

Site Status RECRUITING

Countries

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Taiwan

Central Contacts

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Yi-Ching Tung, MD

Role: CONTACT

Phone: 886-2-23123456

Email: [email protected]

Facility Contacts

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Yi-Ching Tung, MD

Role: primary

Other Identifiers

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9361701060

Identifier Type: -

Identifier Source: org_study_id