Ignite Creation Date:
2024-05-05 @ 11:55 AM
Last Modification Date:
2024-10-26 @ 9:16 AM
Study NCT ID:
NCT00173654
Status:
UNKNOWN
Last Update Posted:
2005-12-21
First Post:
2005-09-12
Brief Title:
Mutation Analysis of 17βhydroxysteroid Dehydrogenase 3 Deficiency
Sponsor:
National Taiwan University Hospital
Organization:
National Taiwan University Hospital
Study Overview
Official Title:
None
Status:
UNKNOWN
Status Verified Date:
2005-08
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 disclose the molecular pathology of our 3 families with 17βHSD3 deficiency
Detailed Description:
17βhydroxysteroid dehydrogenase 3 17βHSD3 deficiency is a rare cause of male pseudohermaphroditism The incidence is reported to be 1 147000 in the Netherlands Fewer than one hundred affected 46 XY males were reported in the literature and no such case has been reported in Taiwan before The 46 XY patients have ambiguious or complete female external genitalia They are mostly unrecognized at birth and reared as female They often draw medical attention when they receive operation for inguinal hernia or during puberty clitoromegaly and musculization were noticed However the homozygous or compound heterozygous genetic females are asymptomatic The 17βHSD3 catalyze the conversion of androstenedione to testosterone the last step in the synthesis of testosterone Therefore the serum levels of androstenedione are elevated and testosterone or dihydrotestosterone are in the low range in these affected 46 XY individuals The clinical diagnosis is made by HCG stimulation test because androstenedione-to-testosterone ratio is abnormally elevated in these patients But the molecular basis of 17βHSD3 deficiency was not determined till recent decade
The HSD17B3 gene was elucidated in 1994 and composed of 11 exons Several missence mutation and splice mutation were identified But the precise action and tissue distribution of 17βHSD3 still need to be clarified The Wölffian ducts virilze normally in the embryonic stage and the serum concentration of testosterone achieve to the normal range in the pubertal stage The exact mechanism is not understood clearly and peripheral conversion under other isozymes was suggested in some studies
The purpose of this study is to disclose the molecular pathology of our 3 families with 17βHSD3 deficiency
The HSD17B3 gene was elucidated in 1994 and composed of 11 exons Several missence mutation and splice mutation were identified But the precise action and tissue distribution of 17βHSD3 still need to be clarified The Wölffian ducts virilze normally in the embryonic stage and the serum concentration of testosterone achieve to the normal range in the pubertal stage The exact mechanism is not understood clearly and peripheral conversion under other isozymes was suggested in some studies
The purpose of this study is to disclose the molecular pathology of our 3 families with 17βHSD3 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