Ignite Creation Date:
2024-05-05 @ 11:55 AM
Last Modification Date:
2024-10-26 @ 9:16 AM
Study NCT ID:
NCT00172510
Status:
UNKNOWN
Last Update Posted:
2005-09-15
First Post:
2005-09-12
Brief Title:
Mutation Analysis of 17α-Hydroxylase
Sponsor:
National Taiwan University Hospital
Organization:
National Taiwan University Hospital
Study Overview
Official Title:
None
Status:
UNKNOWN
Status Verified Date:
2004-08
Last Known Status:
RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
To elucidate the molecular pathology of the 4 families with 17α-hydroxylase1720-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 1720-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 1720-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 1720-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-hydroxylase1720-lyase deficiency
The P450c17 has both 17α-hydroxylase and 1720-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-hydroxylase1720-lyase deficiency
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None