Pituitary Resistance To Thyroid Hormone

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema.

Genes related to Pituitary Resistance To Thyroid Hormone

THRB

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Clinical Features

Phenotypes and symptoms related to Pituitary Resistance To Thyroid Hormone

Goiter
Hyperthyroidism
Increased thyroid-stimulating hormone level
Thyroid hormone receptor defect

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Pituitary Resistance To Thyroid Hormone Is also known as selective pituitary resistance to thyroid hormone, prth, hyperthyroidism, familial, due to inappropriate thyrotropin secretion.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Pituitary Resistance To Thyroid Hormone Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Thyroid Hormone Resistance. By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States). THRB Specificity 100 % Genes 100 %
Congenital Hypothyroidism Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1 , (...) View the complete list with 1 more genes Panel complete gene list SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1, PROP1 Specificity 5 % Genes 100 %
Congenital Hypothyroidism Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1 , (...) View the complete list with 1 more genes Panel complete gene list SLC16A2, SLC5A5, TG, THRA, THRB, NKX2-1, TPO, TSHB, KDM6A, DUOX2, UBR1, IYD, GLIS3, DUOXA2, FOXE1, IGSF1, KMT2D, PAX8, SLC26A4, POU1F1, PROP1 Specificity 5 % Genes 100 %
THRB mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). THRB Specificity 100 % Genes 100 %
THRB. Sequencing of the exons 7-10. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). THRB Specificity 100 % Genes 100 %
THRB. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). THRB Specificity 100 % Genes 100 %
Thyroid hormone resistance (deletion/duplication analysis of THRB gene). By CGC Genetics (Portugal). THRB Specificity 100 % Genes 100 %
Thyroid hormone resistance (deletion/duplication analysis of THRB gene). By CGC Genetics (Portugal). THRB Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Search Engine

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