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Trial record 2 of 11 for:    Congenital Hypothyroidism

TG Gene Mutations and Congenital Hypothyroidism

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00493103
Recruitment Status : Completed
First Posted : June 27, 2007
Last Update Posted : June 27, 2007
Fundação de Amparo à Pesquisa do Estado de São Paulo
Information provided by:
University of Sao Paulo

Brief Summary:
The aim of this study was to identify mutations in the thyroglobulin gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.

Condition or disease
Congenital Hypothyroidism

Detailed Description:
Congenital goitrous hypothyroid is commonly linked to thyroglobulin (TG) gene mutations.We aim to identify mutations in the TG gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.Four related patients with congenital goiter hypothyroidism from an inbred family were studied.Recombinant human TSH stimulation test, DNA sequencing and protein computer analysis were performed.We identified a novel compound heterozygous constellation (IVS30+1G>T/A2215D) in two siblings. It was also identified a homozygous intronic mutation (IVS30+1G>T) in their cousins, one of them with fetal goiter. The mutation IVS30+1G>T promotes an aberrant splicing and loss of the entire exon 30 (138 nt) in the resulting messenger RNA. The recent described mutation A2215D is located in the ACHE-like domain, which functions as a dimerization domain, facilitating efficient intracellular transport of the protein. Protein computer analysis suggested that the A2215D mutation causes TG structural alterations.A novel compound heterozygous constellation (IVS30+1G>T/A2215D) and the previously described mutation (IVS30+1G>T) that cause severe congenital hypothyroidism due to defective TG synthesis have been identified. The mutation IVS30+1G>T may be related to fetal goiter and hypothyroidism due to TG instability and impaired TG export to the colloid. This study shows the efficiency of the use of rhTSH in the differential diagnosis of CH due to TG defective synthesis and the importance of molecular diagnosis of CH for possible intrauterine treatment, thereby avoiding damage to the neuropsychomotor system.

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Study Type : Observational
Primary Purpose: Screening
Time Perspective: Cross-Sectional
Time Perspective: Prospective
Official Title: Congenital Hypothyroidism Due to Thyroglobulin Mutations in an Inbred Brazilian Family: A Novel Compound Heterozygous Constellation and Intronic Mutation Related to Fetal Goiter.
Study Start Date : July 2003
Actual Study Completion Date : June 2007

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Inclusion Criteria:

  • Patients with congenital hypothyroidism due to thyroglobulin defective synthesis.

Exclusion Criteria:

  • Patients with another disease.

Information from the National Library of Medicine

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 identifier (NCT number): NCT00493103

Sponsors and Collaborators
University of Sao Paulo
Fundação de Amparo à Pesquisa do Estado de São Paulo
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Principal Investigator: Viviane Pardo University of São Paulo
Study Director: Geraldo Medeiros-Neto University of São Paulo

Layout table for additonal information Identifier: NCT00493103     History of Changes
Other Study ID Numbers: PRN989/03
First Posted: June 27, 2007    Key Record Dates
Last Update Posted: June 27, 2007
Last Verified: June 2007
Keywords provided by University of Sao Paulo:
thyroglobulin gene
congenital hypothyroidism
gene mutations
fetal goiter
iodine nutrition
Additional relevant MeSH terms:
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Congenital Hypothyroidism
Thyroid Diseases
Endocrine System Diseases
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Bone Diseases, Endocrine
Genetic Diseases, Inborn