Mutation Analysis of 17α-Hydroxylase
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|ClinicalTrials.gov Identifier: NCT00172510|
Recruitment Status : Unknown
Verified August 2004 by National Taiwan University Hospital.
Recruitment status was: Recruiting
First Posted : September 15, 2005
Last Update Posted : September 15, 2005
|Condition or disease||Intervention/treatment|
|Pseudohermaphroditism Congenital Adrenal Hyperplasia Hypertension||Procedure: blood drawing|
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 Type :||Observational|
|Estimated Enrollment :||25 participants|
|Observational Model:||Defined Population|
|Study Start Date :||August 2004|
|Estimated Study Completion Date :||August 2005|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00172510
|Contact: Yi-Ching Tung, MD||886-2-23123456 ext email@example.com|
|National Taiwan University Hospital||Recruiting|
|Contact: Yi-Ching Tung, MD 886-2-23123456 ext 5130 firstname.lastname@example.org|
|Principal Investigator:||Yi-Ching Tung, MD||National Taiwan University Hospital|