Results 11 to 20 of about 90,318,030 (246)

RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR- MUTATION IN A PATIENT WITH THYROID AGENESIS

Euromediterranean Biomedical Journal, 2018
Refetoff Syndrome is a rare disorder characterized by resistance to thyroid hormone (RTH). The coexistence of RTH and thyroid dysgenesis is a rare event. Up to now, only four cases of ectopic gland and RTH have been reported.
Maria Scavone
doaj   +2 more sources

Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2014
Resistance to thyroid hormone (RTH) is a rare inherited syndrome characterized by diminished response of the target tissue to thyroid hormone caused, in the majority of cases, by mutation of the thyroid hormone receptor beta (THRβ) gene. Despite elevated
Jae Hee Lee, Eun Young Kim
doaj   +2 more sources

Thyroid hormone resistance syndrom: difficulties in differential diagnosis

Клиническая и экспериментальная тиреоидология, 2018
Thyroid hormone resistance syndrome (RTH) is a rare disorder characterized by reduced peripheral tissue responses to thyroid hormones (TH) and elevated levels of circulating free thyroid hormones.
Lyudmila A. Ruyatkina, Aguniya A. Molchanova, Alina S. Ruyatkina, Lyudmila Y. Rozhinskaya   +3 more
doaj   +2 more sources

Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report [PDF]

The Turkish Journal of Pediatrics, 2013
Thyroid hormone resistance (THR) is a dominantly inherited syndrome characterized by reduced sensitivity to thyroid hormones. It is usually caused by mutations in the thyroid hormone receptor beta (THRB) gene.
Emregül Işık, Paolo Beck Peccoz, Irene Campi, Alev Özön, Ayfer Alikaşifoğlu, Nazlı Gönç, Nurgün Kandemir   +6 more
doaj   +4 more sources

Resistance to thyroid hormone induced tachycardia in RTHα syndrome. [PDF]

Nat Commun, 2023
Mutations in thyroid hormone receptor α1 (TRα1) cause Resistance to Thyroid Hormone α (RTHα), a disorder characterized by hypothyroidism in TRα1-expressing tissues including the heart.
Dore R, Watson L, Hollidge S, Krause C, Sentis SC, Oelkrug R, Geißler C, Johann K, Pedaran M, Lyons G, Lopez-Alcantara N, Resch J, Sayk F, Iwen KA, Franke A, Boysen TJ, Dalley JW, Lorenz K, Moran C, Rennie KL, Arner A, Kirchner H, Chatterjee K, Mittag J.   +23 more
europepmc   +15 more sources

A Case of Thyroid Hormone Resistance Syndrome with a Novel Mutation (c.947G>a) in the THRB Gene: Experience in Diagnosis and Treatment [PDF]

International Medical Case Reports Journal
Jie Liu, Yu Wei, Yanhui Zhu, Yu Li, Qiong Wang, Lei Yu, Langen Zhuang, Guoxi Jin, Xiaoyan Pei Department of Endocrinology, The First Affiliated Hospital of Bengbu Medical University, Bengbu, Anhui Province, People’s Republic of ChinaCorrespondence: Guoxi
Liu J, Wei Y, Zhu Y, Li Y, Wang Q, Yu L, Zhuang L, Jin G, Pei X   +8 more
doaj   +1 more source

Clinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta [PDF]

J Clin Res Pediatr Endocrinol
Objective: Resistance to thyroid hormone beta (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone.
Büyükyılmaz G, Çavdarlı B, Koca SB, Toksoy Adıgüzel K, Topaloğlu O, Aydın C, Hepsen S, Çakal E, Semerci Gündüz N, Boyraz M, Gürbüz F, Demirbilek H.   +11 more
europepmc   +2 more sources

Calcitonin values in pseudohypoparathyroidism [PDF]

Medicinski Glasnik Specijalne Bolnice za Bolesti Štitaste Žlezde i Bolesti Metabolizma "Zlatibor", 2023
Pseudohypoparathyroidism type 1A is a rare endocrine disorder caused by GNAS mutation and the resulting hormone resistance at the receptor level, i.e. the activation of the intracellular pathway of the Gs alpha subunit is not possible.
Marković Bojan, Klet Sanja, Stojković Mirjana, Janić Tamara, Nedeljković-Beleslin Biljana, Ćirić Jasmina, Žarković Miloš   +6 more
doaj   +1 more source

Clinical and Hormonal Characteristics of Patients with Syndrome of Inappropriate Secretion of Thyrotropin

Endocrinology Research and Practice, 2016
Purpose: Normal or elevated thyrotropin (TSH) levels in the presence of elevated thyroxine is defined as syndrome of inappropriate secretion of TSH. The two main clinical conditions that can lead to this syndrome are TSH-secreting adenoma (TSHoma) and ...
Şefika Burçak Polat, Cevdet Aydın, Gülfem Kaya, Neslihan Çuhacı, Reyhan Ersoy, Bekir Çakır   +5 more
doaj   +1 more source

Syndromes of resistance to thyroid hormone

Клиническая и экспериментальная тиреоидология, 2013
Синдром резистентности к тиреоидным гормо нам (RTH) является наследственным синдромом, характеризующимся пониженной чувствительнос тью тканеймишеней к гормонам щитовидной желе зы.

doaj   +1 more source