Search results for "Thyroid Hormone Resistance Syndrome"

showing 3 items of 3 documents

Phenotypic variability in patients with generalised resistance to thyroid hormone.

1995

Genetic linkage of generalised resistance to thyroid hormone (GRTH) to the human thyroid receptor beta 1 gene has been identified. To date 38 different mutations in several kindreds have been documented. We report on a family with GRTH displaying an adenine for guanine substitution at nucleotide 1234 resulting in a threonine for alanine substitution at codon 317 of exon 9. This mutation has been described for different phenotypes, suggesting that the heterogeneity in GRTH may be the result of multiple genetic factors.

AdultMaleThyroid Hormone Resistance SyndromeThyroid Hormonesmedicine.medical_specialtyGenetic LinkageMolecular Sequence DataThyroid Function TestsBiologymedicine.disease_causeThyroid function testsGenetic HeterogeneityExonGenetic linkageInternal medicineGeneticsmedicineHumansPoint MutationAmino Acid SequenceChildGeneGenetics (clinical)GeneticsMutationReceptors Thyroid HormoneBase Sequencemedicine.diagnostic_testGenetic heterogeneityPoint mutationThyroidPedigreePhenotypemedicine.anatomical_structureEndocrinologyChild PreschoolFemaleResearch ArticleJournal of Medical Genetics
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Treatment of pituitary resistance to thyroid hormone (PRTH) in an 8-year-old boy.

1996

We report on an 8-year-old boy with pituitary resistance to thyroid hormone (PRTH) having a cysteine for arginine substitution at codon 320 in the TR-beta gene who was presented because of thyrotoxicosis. Due to its suppressive effect on the pituitary thyrotropin secretion, treatment with D-thyroxine (D-T4) was started. After a few days, clinical euthyroidism was achieved but thyroid stimulating hormone secretion was not suppressed. Symptoms of thyrotoxicosis relapsed when therapy was interrupted so that therapy with D-T4 was reinstituted and continued to date. Symptoms did not recur, and the psychomotor development proceeded normally. D-T4 should therefore be considered in the treatment of…

MaleThyroid Hormone Resistance Syndromeendocrine systemmedicine.medical_specialtyPituitary glandendocrine system diseasesArginineTreatment outcomeMolecular Sequence DataPathogenesisInternal medicineMedicineHumansAmino Acid SequenceDextrothyroxineThyroid-stimulating hormone secretionChildbusiness.industryThyroidGeneral MedicineD-Thyroxinemedicine.anatomical_structureEndocrinologyThyrotoxicosisTreatment OutcomePediatrics Perinatology and Child HealthMutationbusinessHormoneActa paediatrica (Oslo, Norway : 1992)
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Resistance to thyroid hormone in a family caused by a new point mutation L330S in the thyroid receptor (TR) beta gene.

1997

Resistance to thyroid hormone (RTH) is an inherited defect manifesting as variable tissue hyporesponsiveness to thyroid hormone, usually caused by mutations in the thyroid hormone receptor beta (TR beta) gene. Up to now 78 mutations in this gene have been identified, mostly clustered in two regions located in exon 9 and 10. We describe a new point mutation replacing the normal thymidine-1274 with a cytosine that results in the substitution of the normal leucine-330 with a serine (L330S) in the receptor protein. This mutation was identified in an 11-year-old boy who presented with symptoms and signs suggestive of both hyperthyroidism and hypothyroidism. Interestingly a mutation in the same c…

MaleThyroid Hormone Resistance Syndromeendocrine systemmedicine.medical_specialtyendocrine system diseasesEndocrinology Diabetes and MetabolismBiologyThyroid Function TestsThyroid hormone receptor betaEndocrinologyLeucineInternal medicinemedicineSerineHumansPoint MutationBeta (finance)ChildGeneThyroid hormone receptorReceptors Thyroid HormonePoint mutationdigestive oral and skin physiologyThyroidDNAExonsPedigreeEndocrinologymedicine.anatomical_structureMultigene FamilyCancer researchPAX8HormoneThyroid : official journal of the American Thyroid Association
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