Resistance to thyrotropin: familial case report

Resistance to thyrotropin: familial case report

Two female dizygotic twins with subclinical primary hypothyroidism due to homozygous p.R450H mutation in TSHR gene are presented. A 5-year follow-up in both cases showed no progression of thyroid dysfunction. Indications for levothyroxine replacement in subclinical hypothyroidism are discussed.

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Veröffentlicht in:Klinicheskai͡a︡ i ėksperimentalʹnai͡a︡ tireoidologii͡a 2016-02, Vol.11 (4), p.36-39
Hauptverfasser: Osipovskaya, Mariya Aleksandrovna, Kiyaev, Alexey Vasil'evich, Makretskaya, Nina Alekseevna, Vasiliev, Evgeny Viktorovich, Tiulpakov, Anatoly Nikolaevich
Format: Artikel
Sprache:eng ; rus
Schlagworte:
children
resistance to thyrotropin
subclinical hypothyroidism
tshr
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Zusammenfassung:Two female dizygotic twins with subclinical primary hypothyroidism due to homozygous p.R450H mutation in TSHR gene are presented. A 5-year follow-up in both cases showed no progression of thyroid dysfunction. Indications for levothyroxine replacement in subclinical hypothyroidism are discussed.
ISSN:1995-5472
2310-3787
DOI:10.14341/ket2015436-39