Novel presentation of the c.1856A > G (p.Asp619Gly) TSHR gene-activating variant: relapsing hyperthyroidism in three subsequent generations manifesting in early childhood and an in vitro functional study.

Bezdicka, Martin; Kleiblova, Petra; Soucek, Jiri; Borecka, Marianna; El-Lababidi, Eva; Smrz, Daniel; Rataj, Michal; Sumnik, Zdenek; Malikova, Jana; Soucek, Ondrej

Bezdicka, Martin; Kleiblova, Petra; Soucek, Jiri; Borecka, Marianna; El-Lababidi, Eva; Smrz, Daniel; Rataj, Michal; Sumnik, Zdenek; Malikova, Jana; Soucek, Ondrej.

Afiliação

Bezdicka M; Vera Vavrova Laboratory/VIAL, Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Kleiblova P; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Soucek J; Private Paediatric Endocrinology Practice, Carlsbad, Czech Republic.
Borecka M; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
El-Lababidi E; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Smrz D; Department of Pediatrics, Third Faculty of Medicine, Charles University and Kralovske Vinohrady University Hospital, Prague, Czech Republic.
Rataj M; Department of Immunology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Sumnik Z; Department of Immunology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Malikova J; Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.
Soucek O; Department of Pediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic.

Hormones (Athens) ; 20(4): 803-812, 2021 Dec.

Article em En | MEDLINE | ID: mdl-34142359

Assuntos

Doença de Graves; Hipertireoidismo; Antitireóideos/farmacologia; Pré-Escolar; Humanos; Hipertireoidismo/genética; Radioisótopos do Iodo; Masculino; Recidiva Local de Neoplasia; Receptores da Tireotropina/genética; Receptores da Tireotropina/metabolismo; Tireoglobulina/química; Tireotropina/química; Tiroxina/metabolismo

Palavras-chave

Activating TSHR pathogenic variant; Case report; Familial non-autoimmune hyperthyroidism; Functional study; Radioiodine ablative treatment; Repeated thyroid surgery

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Graves / Hipertireoidismo Tipo de estudo: Prognostic_studies / Screening_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Hormones (Athens) Assunto da revista: ENDOCRINOLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: República Tcheca

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google