Ignite Creation Date:
2024-05-05 @ 7:50 PM
Last Modification Date:
2024-10-26 @ 9:54 AM
Study NCT ID:
NCT00747760
Status:
COMPLETED
Last Update Posted:
2008-09-11
First Post:
2008-09-04
Brief Title:
TSH Receptor Mutations Among a Consanguineous Community
Sponsor:
HaEmek Medical Center Israel
Organization:
HaEmek Medical Center Israel
Study Overview
Official Title:
The Prevalence of TSH Receptor Mutation Among the Arab Population of Israel
Status:
COMPLETED
Status Verified Date:
2008-09
Last Known Status:
None
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:
TSHR
Brief Summary:
Resistance to thyrotropin RTSH is a condition of impaired responsiveness of the thyroid gland to TSH characterized by elevated TSH low or normal thyroid hormone levels and hypoplastic or normal-sized thyroid gland
The aim of the present study was to evaluate the clinical course over timethe genotype-phenotype association and the frequency of two different TSH-receptor TSHR mutations in a highly consanguineous population of the town of Um-El-Fahem
The aim of the present study was to evaluate the clinical course over timethe genotype-phenotype association and the frequency of two different TSH-receptor TSHR mutations in a highly consanguineous population of the town of Um-El-Fahem
Detailed Description:
Resistance to thyrotropin RTSH is a syndrome involving reduced sensitivity to TSH It is characterized by elevated TSH absence of goiter normal or hypoplastic thyroid gland and normal to very low levels of thyroid hormones The TSH-receptor TSHR gene is located on chromosome 14q31 and it consists of extracellular trans-membrane and intracellular domains Mutation in the TSHR may cause either gain or loss of function of the receptor Loss-of-function mutations are autosomal-recessively inherited and lead to a spectrum of phenotypes ranging from mild euthyroid hyperthyrotropinemia to severe congenital hypothyroidism CH Insensitivity to TSH depends on both the severity and location of the TSHR mutations Since the first report of familial euthyroid hyperthyrotropinemia caused by a TSHR mutation several cases of loss-of-function mutations of the TSHR have been reported however only a few reports on the outcome of patients affected with TSHR mutations Whether the condition of euthyroid hyperthyrotropinemia leads to clinical hypothyroidism remains stable or normalizes over time has yet to be elucidated We recently described a unique novel TSHR-inactivating mutation located at the third extracellular loop that preferentially affected the inositol phosphate IP pathway in three sisters of Arab-Muslim decent that presented with euthyroid hyperthyrotropinemia Further analysis of the extended family revealed additional members with TSHR syndrome phenotype carrying two different TSHR mutations All the affected subjects live in the same town The aim of the present study was to evaluate the clinical course over time the genotype-phenotype association and the frequency of these two different TSHR mutations among the highly consanguineous population of the town of Um El Fahem
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
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 066-2005 | None | None | None |