A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report

Shafie, Kawther El; Ouhtit, Allal; Farsi, Yousuf Al; Sayegh, Abeer Al; Al-Shafaee, Mohammed

doi:10.1186/1752-1947-8-12

Cited by 5 publications

(6 citation statements)

References 13 publications

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“…Thus, the larger steric hindrances occur for the unliganded and mutated THR-β. The clinical analysis shows that THRT3-WT is related to euthyroid or normal thyroid functions, THR-WT is related to overt thyroidism and THRT3-MT is related to RTH [6][7][8][9][10][11][12][13][14]. The constancy of root mean square deviation (RMSD) and radius of gyration (RG) of the molecules THRβ protein and T3-hormone over the time frames of equilibration run (Fig.…”

Section: Resultsmentioning

confidence: 98%

“…The mutant T327I found in THR-β gene shows the paucity of symptoms and signs of thyroid dysfunction suggesting RTH despite the increased serum levels of T3, T4 and thyroid stimulating hormone (TSH) [7]. A rare mutation A268G found in axon 9 of THR-β gene results RTH with elevated serum T3 and T4, TSH in the normal range and the episodic palpitations associated with mild dizziness [8]. A heterogeneous mutation G344R is identified in axon 10 of THR-β gene of 10-month-old-female resulting in paucity of symptoms of RTH with normal T3, T4 and TSH levels [9].…”

Section: Introductionmentioning

confidence: 99%

“…(a) Wild type THR-β highlighting with I431 codon and T3 hormone, (b) I431V-mutant on THR-β gene and (c) experimentally observed mutational sites on THR-β gene[7][8][9][10][11][12]. The images are prepared from PyMOL molecular graphics system.…”

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Molecular dynamics approach to the I431V mutational impact on thyroid hormone receptor-beta

et al. 2018

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The point mutations like I431V on thyroid hormone receptor-beta (THR-β) gene cause resistance to thyroid hormones (RTH) with the clinical diagnosis of elevated free triiodothyronine (T3) and free thyroxin (T4) but not suppressed thyroid stimulating hormone (TSH) on the blood serum. Some ultrasonographic (USG) reports of the patients with RTH show thyroid gland disorder with goiter or nodule(s) or cyst(s) and some USG reports even with RTH are normal. I431V-mutant causes more steric hindrance while binding T3 into THR-β than the native wild type THRT3. The residue on the 431-codon is dynamic in nature showing its flexibility over the course of entry and release of T3-hormone into/from the ligand binding pocket. The more increased solvent accessible surface area of I431V-mutant than that of native I431-residue makes the partial unfolding of the globular THR-β protein. The smaller height of radial distribution function between I431-mutant and T3 shows the decrease in probability of finding the atomic particles nearby T3-hormone in THRT3-MT than in THRT3-WT. The electrostatic interaction energy between native I431 and T3 is negative, but it is positive between I431V and T3. Moreover, the internal energy of I431V-mutant has been found smaller than that of native I431-residue in THRT3 systems.BIBECHANA 16 (2019) 79-91

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Section: Resultsmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

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Molecular dynamics approach to the I431V mutational impact on thyroid hormone receptor-beta

et al. 2018

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“…Pasienter som plages av palpitasjoner, takykardi og tremor kan ha effekt av betablokkere (23). Noen studier har vist effekt av tyroksin eller liotyronin, fortrinnsvis til barn med forsinket utvikling og til pasienter med dominerende hypotyreosesymptomer.…”

Section: Prognose Og Behandlingunclassified

Nedsatt følsomhet for thyreoideahormon

Kvistad¹,

Methlie²,

Løvås³

et al. 2016

Tidsskriftet

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“…Its incidence is about 1/40.000 live births. Its diagnosis is based on biological assessment showing increased circulating free T4 (FT4) and/or free T3 (FT3) levels along with normal or increased levels of thyroid stimulating hormone (TSH) (3,5). Generally, patients with THR present no or few hyperthyroidism symptoms.…”

Section: Introductionmentioning

confidence: 99%

Resistance to Thyroid Hormone: A Novel Mutation of the Thyroid Hormone Receptor β Gene in an Algerian Family

Bellarbi

Chentli

Azzoug³

2017

Acta Endo (Buc)

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Resistance to thyroid hormone (RTH) is an inherited disease transmitted in an autosomal dominant manner. The diagnosis is suspected when peripheral thyroid hormones are increased contrasting with normal or increased levels of thyroid stimulating hormone. Usually, people harboring the rare syndrome have few or no symptoms. However, in some patients signs of hyperthyroidism may be the revealing anomalies as in the following case: A 75 year-old woman was referred to our department for a benign adrenal incidentaloma. In her medical history she was treated for systemic hypertension and diabetes mellitus for 15 years. Clinical examination did not show any sign of adrenal secretion, but discovered rapid irregular cardiac rhythm with some hyperthyroidism features such as increased sweating and upper limbs and jaw tremor. Electrocardiogram showed atrial fibrillation. Hormonal assessment confirmed hyperthyroidism as FT4 levels were high (mean value: 30.2pmol/L (n= 9-23)), contrasting with non-suppressed TSH levels (13.8μU/mL (n = 0.2-4)). Cerebral magnetic resonance imaging was normal. Genetic testing revealed a new heterozygous mutation on exon 10 in the THRβ gene (c.1366T>G) compatible with RTH syndrome. Screening of her children showed the same hormonal profile in five out of ten. These results confirmed RTH and the familial character.

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A rare thyroid hormone receptor beta (THRβ) gene mutation in a 15-year-old girl with thyroid hormone resistance syndrome: a case report

Cited by 5 publications

References 13 publications

Molecular dynamics approach to the I431V mutational impact on thyroid hormone receptor-beta

Molecular dynamics approach to the I431V mutational impact on thyroid hormone receptor-beta

Nedsatt følsomhet for thyreoideahormon

Resistance to Thyroid Hormone: A Novel Mutation of the Thyroid Hormone Receptor β Gene in an Algerian Family

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