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.

Bibliographic Details
Main Authors: Mariya Aleksandrovna Osipovskaya, Alexey Vasil'evich Kiyaev, Nina Alekseevna Makretskaya, Evgeny Viktorovich Vasiliev, Anatoly Nikolaevich Tiulpakov
Format: Article
Language:Russian
Published: Endocrinology Research Centre 2016-02-01
Series:Клиническая и экспериментальная тиреоидология
Subjects:
Online Access:https://cet-endojournals.ru/ket/article/viewFile/7699/5652
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author Mariya Aleksandrovna Osipovskaya
Alexey Vasil'evich Kiyaev
Nina Alekseevna Makretskaya
Evgeny Viktorovich Vasiliev
Anatoly Nikolaevich Tiulpakov
author_facet Mariya Aleksandrovna Osipovskaya
Alexey Vasil'evich Kiyaev
Nina Alekseevna Makretskaya
Evgeny Viktorovich Vasiliev
Anatoly Nikolaevich Tiulpakov
author_sort Mariya Aleksandrovna Osipovskaya
collection DOAJ
description 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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2310-3787
language Russian
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spelling doaj.art-fea80bbed7974e1eb6d93b9cd0cedc5e2022-12-21T21:54:53ZrusEndocrinology Research CentreКлиническая и экспериментальная тиреоидология1995-54722310-37872016-02-01114363910.14341/ket2015436-397340Resistance to thyrotropin: familial case reportMariya Aleksandrovna Osipovskaya0Alexey Vasil'evich Kiyaev1Nina Alekseevna Makretskaya2Evgeny Viktorovich Vasiliev3Anatoly Nikolaevich Tiulpakov4Ural State Medical UniversityUral State Medical UniversityEndocrinology Research CentreEndocrinology Research CentreEndocrinology Research CentreTwo 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.https://cet-endojournals.ru/ket/article/viewFile/7699/5652subclinical hypothyroidismresistance to thyrotropintshrchildren
spellingShingle Mariya Aleksandrovna Osipovskaya
Alexey Vasil'evich Kiyaev
Nina Alekseevna Makretskaya
Evgeny Viktorovich Vasiliev
Anatoly Nikolaevich Tiulpakov
Resistance to thyrotropin: familial case report
Клиническая и экспериментальная тиреоидология
subclinical hypothyroidism
resistance to thyrotropin
tshr
children
title Resistance to thyrotropin: familial case report
title_full Resistance to thyrotropin: familial case report
title_fullStr Resistance to thyrotropin: familial case report
title_full_unstemmed Resistance to thyrotropin: familial case report
title_short Resistance to thyrotropin: familial case report
title_sort resistance to thyrotropin familial case report
topic subclinical hypothyroidism
resistance to thyrotropin
tshr
children
url https://cet-endojournals.ru/ket/article/viewFile/7699/5652
work_keys_str_mv AT mariyaaleksandrovnaosipovskaya resistancetothyrotropinfamilialcasereport
AT alexeyvasilevichkiyaev resistancetothyrotropinfamilialcasereport
AT ninaalekseevnamakretskaya resistancetothyrotropinfamilialcasereport
AT evgenyviktorovichvasiliev resistancetothyrotropinfamilialcasereport
AT anatolynikolaevichtiulpakov resistancetothyrotropinfamilialcasereport