Clinical Trial: Mutation Analysis of 17α-Hydroxylase

Study Status: Recruiting
Recruit Status: Unknown status
Study Type: Observational

Official Title:

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

Detailed Summary:

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.

Sponsor: National Taiwan University Hospital

Current Primary Outcome:

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Original Secondary Outcome:

Information By: National Taiwan University Hospital

Dates:
Date Received: September 12, 2005
Date Started: August 2004
Date Completion: August 2005
Last Updated: September 12, 2005
Last Verified: August 2004