Syndromes de résistance à TSH

Translated title of the contribution: Syndromes of resistance to TSH

L. Persani, G. Gelmini, F. Marelli, P. Beck-Peccoz, M. Bonomi

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

The resistance to TSH action is a genetic disease characterized by molecular defects hampering the adequate transmission of TSH stimulatory signal into thyroid cells. In principle the defect may affect every step along the cascade of events following the binding of TSH to its receptor (TSHR) on thyroid cell membranes. The phenotypic expressivity of TSH resistance is highly variable going from severe congenital hypothyroidism (CH) with thyroid hypoplasia to mild hyperthyrotropinemia (hyperTSH) associated with an apparent euthyroid state. More severe forms follow a recessive pattern of inheritance and occur in patients with biallelic mutations both causing a severe loss of TSHR function. Differential diagnosis in these cases includes the exclusions of other causes of isolated thyroid dysgenesis. Mildest forms may instead occur in patients with monoallelic TSHR defects following a dominant mode of inheritance. In these cases we described the dominant negative effect exerted by some mutants on the activity of the receptor encoded by the wild type allele. In these cases, differential diagnosis involves the exclusion of autoimmune thyroid disease or pseudohypoparathyroidism associated with defects at the GNAS locus. This review will focus on the variable clinical expression of this disease.

Original languageFrench
Pages (from-to)60-63
Number of pages4
JournalAnnales d'Endocrinologie
Volume72
Issue number2
DOIs
Publication statusPublished - Apr 2011

Fingerprint

Thyroid Dysgenesis
Thyroid Gland
Differential Diagnosis
Pseudohypoparathyroidism
Congenital Hypothyroidism
Inheritance Patterns
Inborn Genetic Diseases
Thyroid Diseases
Autoimmune Diseases
Alleles
Cell Membrane
Mutation

Keywords

  • Congenital hypothyroidism
  • Thyroid
  • TSH receptor
  • TSH resistance

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Syndromes de résistance à TSH. / Persani, L.; Gelmini, G.; Marelli, F.; Beck-Peccoz, P.; Bonomi, M.

In: Annales d'Endocrinologie, Vol. 72, No. 2, 04.2011, p. 60-63.

Research output: Contribution to journalArticle

Persani, L, Gelmini, G, Marelli, F, Beck-Peccoz, P & Bonomi, M 2011, 'Syndromes de résistance à TSH', Annales d'Endocrinologie, vol. 72, no. 2, pp. 60-63. https://doi.org/10.1016/j.ando.2011.03.007
Persani, L. ; Gelmini, G. ; Marelli, F. ; Beck-Peccoz, P. ; Bonomi, M. / Syndromes de résistance à TSH. In: Annales d'Endocrinologie. 2011 ; Vol. 72, No. 2. pp. 60-63.
@article{e09c4425cfff4251943362b742bb60c1,
title = "Syndromes de r{\'e}sistance {\`a} TSH",
abstract = "The resistance to TSH action is a genetic disease characterized by molecular defects hampering the adequate transmission of TSH stimulatory signal into thyroid cells. In principle the defect may affect every step along the cascade of events following the binding of TSH to its receptor (TSHR) on thyroid cell membranes. The phenotypic expressivity of TSH resistance is highly variable going from severe congenital hypothyroidism (CH) with thyroid hypoplasia to mild hyperthyrotropinemia (hyperTSH) associated with an apparent euthyroid state. More severe forms follow a recessive pattern of inheritance and occur in patients with biallelic mutations both causing a severe loss of TSHR function. Differential diagnosis in these cases includes the exclusions of other causes of isolated thyroid dysgenesis. Mildest forms may instead occur in patients with monoallelic TSHR defects following a dominant mode of inheritance. In these cases we described the dominant negative effect exerted by some mutants on the activity of the receptor encoded by the wild type allele. In these cases, differential diagnosis involves the exclusion of autoimmune thyroid disease or pseudohypoparathyroidism associated with defects at the GNAS locus. This review will focus on the variable clinical expression of this disease.",
keywords = "Congenital hypothyroidism, Thyroid, TSH receptor, TSH resistance",
author = "L. Persani and G. Gelmini and F. Marelli and P. Beck-Peccoz and M. Bonomi",
year = "2011",
month = "4",
doi = "10.1016/j.ando.2011.03.007",
language = "Francese",
volume = "72",
pages = "60--63",
journal = "Annales d'Endocrinologie",
issn = "0003-4266",
publisher = "Elsevier Masson",
number = "2",

}

TY - JOUR

T1 - Syndromes de résistance à TSH

AU - Persani, L.

AU - Gelmini, G.

AU - Marelli, F.

AU - Beck-Peccoz, P.

AU - Bonomi, M.

PY - 2011/4

Y1 - 2011/4

N2 - The resistance to TSH action is a genetic disease characterized by molecular defects hampering the adequate transmission of TSH stimulatory signal into thyroid cells. In principle the defect may affect every step along the cascade of events following the binding of TSH to its receptor (TSHR) on thyroid cell membranes. The phenotypic expressivity of TSH resistance is highly variable going from severe congenital hypothyroidism (CH) with thyroid hypoplasia to mild hyperthyrotropinemia (hyperTSH) associated with an apparent euthyroid state. More severe forms follow a recessive pattern of inheritance and occur in patients with biallelic mutations both causing a severe loss of TSHR function. Differential diagnosis in these cases includes the exclusions of other causes of isolated thyroid dysgenesis. Mildest forms may instead occur in patients with monoallelic TSHR defects following a dominant mode of inheritance. In these cases we described the dominant negative effect exerted by some mutants on the activity of the receptor encoded by the wild type allele. In these cases, differential diagnosis involves the exclusion of autoimmune thyroid disease or pseudohypoparathyroidism associated with defects at the GNAS locus. This review will focus on the variable clinical expression of this disease.

AB - The resistance to TSH action is a genetic disease characterized by molecular defects hampering the adequate transmission of TSH stimulatory signal into thyroid cells. In principle the defect may affect every step along the cascade of events following the binding of TSH to its receptor (TSHR) on thyroid cell membranes. The phenotypic expressivity of TSH resistance is highly variable going from severe congenital hypothyroidism (CH) with thyroid hypoplasia to mild hyperthyrotropinemia (hyperTSH) associated with an apparent euthyroid state. More severe forms follow a recessive pattern of inheritance and occur in patients with biallelic mutations both causing a severe loss of TSHR function. Differential diagnosis in these cases includes the exclusions of other causes of isolated thyroid dysgenesis. Mildest forms may instead occur in patients with monoallelic TSHR defects following a dominant mode of inheritance. In these cases we described the dominant negative effect exerted by some mutants on the activity of the receptor encoded by the wild type allele. In these cases, differential diagnosis involves the exclusion of autoimmune thyroid disease or pseudohypoparathyroidism associated with defects at the GNAS locus. This review will focus on the variable clinical expression of this disease.

KW - Congenital hypothyroidism

KW - Thyroid

KW - TSH receptor

KW - TSH resistance

UR - http://www.scopus.com/inward/record.url?scp=79955737826&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79955737826&partnerID=8YFLogxK

U2 - 10.1016/j.ando.2011.03.007

DO - 10.1016/j.ando.2011.03.007

M3 - Articolo

VL - 72

SP - 60

EP - 63

JO - Annales d'Endocrinologie

JF - Annales d'Endocrinologie

SN - 0003-4266

IS - 2

ER -