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Syndromes of Resistance to Thyroid Hormone Action

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Genetics of Endocrine Diseases and Syndromes

Part of the book series: Experientia Supplementum ((EXS,volume 111))

Abstract

Thyroid hormone (TH) action is crucial for the development of several tissues.

A number of syndromes are associated with reduced responsiveness to thyroid hormones, expanding the original definition of thyroid hormone resistance, firstly described by Refetoff and collaborators in 1967, which is characterized by elevated circulating levels of T4 and T3 with measurable serum TSH concentrations, as a consequence of mutations of thyroid hormone receptor beta (TRβ), recently named as RTHβ. More recently, another form of insensitivity to TH has been identified due to mutations in the thyroid hormone receptor alpha (TRα), named RTHα. In this chapter we will focus the discussion on the phenotype of RTHβ and RTHα. These diseases share the same pathogenic mechanism caused by dominant negative mutations in TH receptor genes that reduce T3 binding or affect the recruitment of cofactors. As a consequence, thyroid hormone actions are impaired at the tissue level. The phenotypic manifestations of RTHβ and RTHα are to some extent correlated with the degree of disruption and the tissue distribution of the TRs being characterized by variable coexistence of hypothyroid or thyrotoxic manifestations in RTHβ or by a congenital hypothyroid features in RTHα despite normal TSH and borderline low free T4.

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Abbreviations

ADHD:

Attention deficit hyperactivity disorders

BBB:

Blood–brain barrier

BMR:

Basal metabolic rate

CNS:

Central nervous system

DIO1:

Type 1 deiodinase

DIO2:

Type 2 deiodinase

DIO3:

Type 3 deiodinase

GRTH:

Generalized resistance to thyroid hormone

α-GSU:

Alpha subunit of glycoprotein hormones

ICTP:

Serum carboxy-terminal telopeptide of type 1 collagen

LAT1:

L-Type amino acid transporter 1

LAT2:

L-Type amino acid transporter 2

LT4:

Levothyroxine

MCT8:

Monocarboxylate transporter 8

MCT10:

Monocarboxylate transporter 10

MRI:

Magnetic resonance imaging

OATP1C1:

Organic anion-transporting polypeptide 1c1

PRTH:

Pituitary resistance to thyroid hormone

REE:

Resting energy expenditure

RTHα:

Resistance to thyroid hormone alpha

RTHβ:

Resistance to thyroid hormone beta

RXR:

Retinoid X receptor

SECISBP :

Selenocysteine insertion sequence (SECIS)-binding protein 2

SHBG:

Sex hormone-binding globulin

TH:

Thyroid hormone

THRA:

Gene coding for thyroid hormone receptor alpha

THRB:

Gene coding for thyroid hormone receptor beta

TRE:

Thyroid hormone-responsive elements

TRIAC:

Triiodothyroacetic acid

TSHomas:

TSH-secreting pituitary adenomas

TR:

Thyroid hormone receptor

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Acknowledgments

This work was partially supported by the Italian Ministry of Health, Rome (Fund RF-2010-2309484).

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Authors and Affiliations

  1. Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

    Luca Persani

  2. Department of Endocrine and Metabolic Diseases, Lab of Endocrine and Metabolic Research, San Luca Hospital, IRCCS Istituto Auxologico Italiano, Milan, Italy

    Luca Persani & Irene Campi

  3. Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy

    Irene Campi

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  1. Luca Persani
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Correspondence to Luca Persani .

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Editors and Affiliations

  1. 2nd Department of Internal Medicine, Faculty of Medicine, Semmelweis University, MTA-SE Molecular Medicine Research Group, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary

    Peter Igaz

  2. Department of Laboratory Medicine, Faculty of Medicine, Semmelweis University, “Lendület” Hereditary Endocrine Tumors Research Group, Hungarian Academy of Sciences and Semmelweis University, Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary

    Attila Patócs

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Persani, L., Campi, I. (2019). Syndromes of Resistance to Thyroid Hormone Action. In: Igaz, P., Patócs, A. (eds) Genetics of Endocrine Diseases and Syndromes. Experientia Supplementum, vol 111. Springer, Cham. https://doi.org/10.1007/978-3-030-25905-1_5

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