The present study was performed to identify the presence of a possible gene mutation as a cause for this syndrome. DNA from peripheral leukocytes was isolated from 15 unaffected and 8 affected individuals from the kindred. [jhu.pure.elsevier.com]

Given the variability in clinical presentation in all patients with RTH, it is difficult to classify patients as having purely PRTH or RTH, as some patients with the identical Tr beta mutation may present with either PRTH or RTH. [endocrinologyadvisor.com]

[…] of the disorder and its varied clinical presentation. [thetrp.net]

In the present case, the patient presented this trait, Figure 1, which pointed to a case of central hyperthyroidism, and RTH syndrome was thought to be the cause. [frontiersin.org]

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 [11]. [wikigenes.org]

• Resistant Hypertension

  A (single-nucleotide polymorphism) SNP in the 3-prime untranslated region of the resistin gene (605565.0001) was associated with susceptibility to diabetes and to insulin resistance-related hypertension in Chinese subjects. [ncbi.nlm.nih.gov]

• Hearing Impairment

  Hearing impairment MedGen UID: 235586 •Concept ID: C1384666 • Disease or Syndrome A decreased magnitude of the sensory perception of sound. [ncbi.nlm.nih.gov]

  impairment, and decrease bone mass. [cjhr.org]

  Clinical features Affected individuals may have delayed growth and puberty, and in severe cases: failure to thrive, mental retardation, infertility, myopathy, hearing impairment, photosensitivity, immune deficits. [flipper.diff.org]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

(Oxf) (2005) [ Pubmed ] Clinical and hormonal outcome after two years of triiodothyroacetic acid treatment in a child with thyroid hormone resistance. [wikigenes.org]

Treatment - Generalized resistance to thyroid hormone Treatment varies vastly from person to person but what is common to all are the high doses of thyroid hormone necessary before a patient feels well. [checkorphan.org]

Failure to recognize this may incorrectly result in antithyroid treatment. [endocrinologyadvisor.com]

Treatment Treatment options for patients with MCT8 gene mutations are currently limited. Supportive measures include the use of braces to prevent mal-positioned contractures that may ultimately require orthopedic surgery. [flipper.diff.org]

The diagnosis may involve identifying a mutation of the thyroid receptor, which is present in approximately 85% of cases Prognosis - Generalized resistance to thyroid hormone Not supplied. [checkorphan.org]

Historical Note: PDF Only Abstract The genetic etiology of thyroid hormone resistance syndromes is now well-established. [journals.lww.com]

Reduced sensitivity to thyroid hormone, 2012 Etiology and genetics The mutant gene SBP2, affects the synthesis of selenoproteins including the deiodinases. [flipper.diff.org]

Relevant External Links for THRB Genetic Association Database (GAD) THRB Human Genome Epidemiology (HuGE) Navigator THRB Atlas of Genetics and Cytogenetics in Oncology and Haematology: THRB No data available for Genatlas for THRB Gene Genotyping of resistance [genecards.org]

Each chapter provides information on the history, physiology, structure, mechanism of action, genetics, pathophysiology, disease diagnosis, and disease treatment for a particular nuclear receptor. [books.google.com]

Prevention - Generalized resistance to thyroid hormone Not supplied. [checkorphan.org]

Not always the cause is genetic, so you might suggest a lack of selenium in the diet that prevents the proper functioning of selenoproteins causing the typical symptoms of hypothyroidism. ROTA MARTA BOIETTI EDOARDO [flipper.diff.org]

Through a mechanism of dominant inhibition, the mutated receptor prevents the binding of T3 to its receptor and gives rise to a lesser tissular response to the action of thyroid hormones. [elsevier.es]

Futhermore, genetic counseling can also be provided to those who intend to have consanguineous unions and can help in prevention of the disease. [jmedicalcasereports.biomedcentral.com]