PseudohermaphroditismNCT00172510
Mutation Analysis of 17α-Hydroxylase
An observational study of Pseudohermaphroditism and Congenital Adrenal Hyperplasia, run by National Taiwan University Hospital at 1 site in Taiwan.
Trial summary
To elucidate the molecular pathology of the 4 families with 17α-hydroxylase/17,20-lyase deficiency. Read more about this study
- Who is it for?
- Ages 0 years and older
- Conditions the study is for
- Pseudohermaphroditism, Congenital Adrenal Hyperplasia, Hypertension
- What is being tested?
- blood drawing
- Type of treatment
- Surgery or procedure
- How many people
- 25 participants
- Where
- 1 siteTaiwan
- Study dates
- Aug 2004to Aug 2005
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Patients with 17α-hydroxylase deficiency and their family
Who cannot join
- -
Trial locations and contacts
1 site in 1 country.
Taiwan1 site, 1 recruiting
- Recruiting
National Taiwan University Hospital
Taipei
Yi-Ching Tung, MD, 886-2-23123456 ext. 5130, dtped004@yahoo.com.tw
About this study
To elucidate the molecular pathology of the 4 families with 17α-hydroxylase/17,20-lyase deficiency.
Read the 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.
- Being tested
- blood drawing
- Medical subject headings
- Disorders of Sex Development, Adrenal Hyperplasia, Congenital, Hypertension
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood drawingProcedure or surgery
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Sep 2005 (estimated)
- Study startAug 2004
- Study completionAug 2005
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for PseudohermaphroditismStudies of the same condition, open and under way.
- More trials run by National Taiwan University HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Defined population
- Time perspective
- Other
- Enrolment
- 25 participants
Sponsor and investigators
- Lead sponsor
- National Taiwan University Hospital
- Sponsor type
- University, hospital or other
- Investigators
- Yi-Ching Tung, MD, Principal investigator, National Taiwan University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00172510
- Sponsor's protocol ID
- 9361701060
- Status last verified
- Aug 2004
- First submitted
- 12 Sep 2005
- Last updated
- 15 Sep 2005
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Sep 2005. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Mutation Analysis of 17α-Hydroxylase
- ClinicalTrials.gov ID
- NCT00172510
- Acronym / sponsor ID
- 9361701060
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 25 participants
- Lead sponsor
- National Taiwan University HospitalUniversity, hospital or other
- Study start
- Aug 2004
- Study completion
- Aug 2005
- First posted
- 15 Sep 2005 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
To elucidate the molecular pathology of the 4 families with 17α-hydroxylase/17,20-lyase deficiency.
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.
Study design
- Observational model
- Defined population
- Time perspective
- Other
Who may qualify
- Ages
- 0 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- Patients with 17α-hydroxylase deficiency and their family
Key exclusion criteria (1 listed)
- -
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| blood drawing | Procedure or surgery | – |
Primary outcome
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Sep 2005.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Yi-Ching Tung, MD principal investigator
National Taiwan University Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pseudohermaphroditism and Congenital Adrenal Hyperplasia, run by National Taiwan University Hospital at 1 site in Taiwan.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 15 Sep 2005. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Taiwan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Yi-Ching Tung, MD (886-2-23123456 ext. 5130, dtped004@yahoo.com.tw), or a site near the patient. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Sep 2005.