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Familial non-autoimmune hyperthyroidism in family members across four generations due to a novel disease-causing variant in the thyrotropin receptor gene

A Malej

A Malej

Division of Internal Medicine, General Hospital IzolaIzola, Slovenia
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Malej, A
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M Avbelj Stefanija

M Avbelj Stefanija

Deparment of Pediatric Endocrinology, Diabetes and Metabolism, University Medical Centre Ljubljana, University Children´s HospitalLjubljana, Slovenia
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Avbelj Stefanija, M
, 
N Bratanič

N Bratanič

Deparment of Pediatric Endocrinology, Diabetes and Metabolism, University Medical Centre Ljubljana, University Children´s HospitalLjubljana, Slovenia
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Bratanič, N
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K Trebušak Podkrajšek

K Trebušak Podkrajšek

  • Deparment of Pediatric Endocrinology, Diabetes and Metabolism, University Medical Centre Ljubljana, University Children´s HospitalLjubljana, Slovenia
  • Institute of Biochemistry and Molecular Genetics, University of Ljubljana, Faculty of MedicineLjubljana, Slovenia
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Trebušak Podkrajšek, K
  
Mar 23, 2021
Familial non-autoimmune hyperthyroidism in family members across four generations due to a novel disease-causing variant in the thyrotropin receptor gene's Cover Image
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Article Category: Case report
Published Online: Mar 23, 2021
Page range: 87 - 92
DOI: https://doi.org/10.2478/bjmg-2020-0022
Keywords
© 2020 Malej A, Avbelj Stefanija M, Bratanič N, Trebušak Podkrajšek K, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

A family pedigree with clinical manifestations and observed TSHR gene disease-causing variant. The initially tested index patients are indicated by arrows. Variant in heterozygous state is marked as p.[Met453Val];[=], normal state is marked as p.[=];[=].
A family pedigree with clinical manifestations and observed TSHR gene disease-causing variant. The initially tested index patients are indicated by arrows. Variant in heterozygous state is marked as p.[Met453Val];[=], normal state is marked as p.[=];[=].

Figure 2

Electropherogram of the sequence from exon 10 of the TSHR gene with novel variant NP_000360.2: p.Met453Val (NM_000369.2: c.1357A>G) in the hetero-zygous state (a) and normal sequence (b).
Electropherogram of the sequence from exon 10 of the TSHR gene with novel variant NP_000360.2: p.Met453Val (NM_000369.2: c.1357A>G) in the hetero-zygous state (a) and normal sequence (b).

Summary of the clinical characteristics of the family members with hyperthyroidism_ Additionally, all patients were tall and slim, they had long, thin fingers, aquiline nose, staring eyes and no exophthalmos_

PatientBornDiedAge at OnsetAntibodies (IU/mL)Treatment
HypCVCAntiTGAntiTPOAntithyroid DrugsThyroidectomy131-Iodine
I-118961963NKNKNKNKNK
II-119232008426055373 years[+]
II-419302004454648549 years[+]
II-5193219985150negativenegative7 years[+]
II-9194019914040NKNK2 years[+]
III-2195240–negativenegative6 years[+]
III-5195420072426negativenegative3 years[+]
III-6195823–negativenegative4 years[+][+]
III-9197317–negativenegative1 year[+]
IV-2198410–80>100014 years
IV-319886–negativenegative14 years[+]
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