Autosomal-dominant non-autoimmune hyperthyroidism presenting with neuromuscular symptoms

Elgadi, Aziz; Arvidsson, C-G; Janson, Annika; Marcus, Claude; Costagliola, Sabine; Norgren, Svante

doi:10.1080/08035250510032925

Cited by 8 publications

(3 citation statements)

References 13 publications

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“… Yes PTU, Tx (7 y) 4 y M Family 1 III-1 (proband) FT4 = 275% FT3 = 293% Yes, 36 N.a. Yes, mildly PTU, Tx (7 y) 3 y M Family 2 II-2 [ 17 ] N.a. N.a.…”

Section: Resultsmentioning

confidence: 99%

A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature

Larsen

Karaviti

Seghers

et al. 2014

Int J Pediatr Endocrinol

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Germline nonautoimmune hyperthyroidism due to an activating mutation in the thyroid stimulating hormone receptor gene is an uncommon disease. To date 32 different mutations have been described. The severity of the hyperthyroid symptoms is variable and phenotype differences have been described in subjects harboring the same mutation. This paper describes a family with a mutation in codon 431 of the thyroid stimulating hormone receptor gene. This is the most common activating mutation in the thyroid stimulating hormone receptor gene with total of 13 patients harboring the mutation in four families. The similarities and differences among patients with the mutation in codon 431 are discussed. Furthermore all previously reported activating mutations in the thyroid stimulating hormone receptor gene are reviewed.Electronic supplementary materialThe online version of this article (doi:10.1186/1687-9856-2014-23) contains supplementary material, which is available to authorized users.

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“… Yes PTU, Tx (7 y) 4 y M Family 1 III-1 (proband) FT4 = 275% FT3 = 293% Yes, 36 N.a. Yes, mildly PTU, Tx (7 y) 3 y M Family 2 II-2 [ 17 ] N.a. N.a.…”

Section: Resultsmentioning

confidence: 99%

A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature

Larsen

Karaviti

Seghers

et al. 2014

Int J Pediatr Endocrinol

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“…Other features of neonatal hyperthyroidism like jaundice, hepatosplenomegaly, thrombocytopenia [41] and respiratory symptoms (such as apnea and asphyxia) [41,45,46,47] were also observed in some patients. Neuromuscular symptoms have also been described [42]. The thyroid size was variable.…”

Section: Recommendationsmentioning

confidence: 99%

“…To date, 27 families with FNAH [3,4,5,6,7,9,10,11,12,13,14,15,16,17,18,19,20,32,33,34,35,36,37,38,39,40] and 15 cases with PSNAH have been published [8,22,23,24,25,26,27,28,29,41,42,43,44,45,46,47,48,49]. Women are affected more frequently by the familial form (83 women compared to 69 men), but not by the sporadic form (TSH Receptor Mutation Database III, OMIM 609152).…”

Section: Introductionmentioning

confidence: 99%

2012 European Thyroid Association Guidelines for the Management of Familial and Persistent Sporadic Non-Autoimmune Hyperthyroidism Caused by Thyroid-Stimulating Hormone Receptor Germline Mutations

et al. 2012

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All cases of familial thyrotoxicosis with absence of evidence of autoimmunity and all children with persistent isolated neonatal hyperthyroidism should be evaluated for familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) or persistent sporadic non-autoimmune hyperthyroidism (PSNAH). First, all index patients should be analysed for the presence/absence of a thyroid-stimulating hormone (TSH) receptor (TSHR) germline mutation, and if they display a TSHR germline mutation, all other family members including asymptomatic and euthyroid family members should also be analysed. A functional characterization of all new TSHR mutations is necessary. Appropriate ablative therapy is recommended to avoid relapses of hyperthyroidism and its consequences, especially in children. Therefore, in children the diagnosis of FNAH or PSNAH needs to be established as early as possible in the presence of the clinical hallmarks of the disease.

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Detection of combined genomic variants in a Jordanian family with familial non-autoimmune hyperthyroidism

Ismail

Mahmoud

Al-Ardah

et al. 2009

J Genet

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Five patients, four brothers and their paternal aunt, presented with a history of overt hyperthyroidism and goiter. Hyperthyroidism in this family was remarkable for its poor response to carbimazole (30-50 mg/d). The thyroid ultrasound showed a diffusely enlarged gland in all the affected members, and thyroid stimulating antibodies (TSAB) were negative. Screening for germline mutations in thyroid stimulating hormone (TSH) receptor (TSHR) gene was performed by direct sequencing of genomic DNA extracted from peripheral blood leukocytes of all family members. The sequence analysis of all TSHR gene exons and intron borders revealed two genomic variants. The first was a single nucleotide polymorphism (SNP) within exon seven (Asn187Asn), whereas the other was located in intron seven (IVS7+68TG). All affected members, two asymptomatic brothers with sub-clinical hyperthyroidism, and their father were heterozygous for those two genomic variants. Anti-thyroid drug treatment for several months successfully relieved symptoms in one subject, whereas the remaining patients required total thyroidectomy to control their disease. This is the first Jordanian family with familial non-autoimmune hyperthyroidism, with mutations affecting the TSHR gene.

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Autosomal-dominant non-autoimmune hyperthyroidism presenting with neuromuscular symptoms

Abstract: The data imply that neuromuscular symptoms can be caused by excessive thyroid hormone levels rather than by autoimmunity.

Cited by 8 publications

References 13 publications

A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature

A new family with an activating mutation (G431S) in the TSH receptor gene: a phenotype discussion and review of the literature

2012 European Thyroid Association Guidelines for the Management of Familial and Persistent Sporadic Non-Autoimmune Hyperthyroidism Caused by Thyroid-Stimulating Hormone Receptor Germline Mutations

Detection of combined genomic variants in a Jordanian family with familial non-autoimmune hyperthyroidism

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