Thyroid Hormone Resistance, Selective Pituitary

选择性垂体甲状腺激素抵抗

更新于：2025-05-07

基本信息

别名

HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION、Hyperthyroidism, Familial, due to Inappropriate Thyrotropin Secretion、PRTH

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简介

A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic.

关联

项与选择性垂体甲状腺激素抵抗相关的临床试验

NL-OMON38471

/ CompletedN/AIIT

Coagulation and fibrinolysis in patients with resistance to thyroid hormone due to a thyroid hormone receptor β-gene mutation - The THRβ study

开始日期2014-01-22

申办/合作机构-

100 项与选择性垂体甲状腺激素抵抗相关的临床结果

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100 项与选择性垂体甲状腺激素抵抗相关的转化医学

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0 项与选择性垂体甲状腺激素抵抗相关的专利（医药）

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项与选择性垂体甲状腺激素抵抗相关的文献（医药）

2024-08-01·Thyroid®

Assessment of Cardiometabolic Risk Factors and Insulin Sensitivity by Hyperinsulinemic–Euglycemic Clamp in Resistance to Thyroid Hormone β Syndrome

Article

作者: Domingues-Hajj, Pryscilla Moreira de Souza ; Magalhães, Patrícia Künzle Ribeiro ; Gomes, Patrícia Moreira ; Maciel, Léa Maria Zanini

Background: Resistance to thyroid hormone beta (RTHβ) is a rare disease resulting from mutations in the THRB gene, characterized by reduced T3 action in tissues with high thyroid hormone receptor β expression. Thyroid hormones regulate body composition and metabolism in general, and increased or decreased hormone levels are associated with insulin resistance. This study evaluated the presence of cardiometabolic risk factors and insulin sensitivity in patients with RTHβ. Methods: In all, 16 patients, 8 adults (52.3 ± 16.3 years of age) and 8 children (10.9 ± 3.9 years of age), were compared to 28 control individuals matched for age, sex, and body mass index (BMI). Anthropometry evaluation and blood samples were collected for glycemia, lipids, insulin, interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-α), leptin, adiponectin, ultrasensitive C-reactive protein (CRPus), free thyroxine, total triiodothyronine, thyrotropin, and anti-thyroid peroxidase measurements. Body composition was assessed using dual-emission X-ray absorptiometry and bioimpedance. Insulin sensitivity was evaluated in adult patients and controls using the hyperinsulinemic-euglycemic clamp (HEC), whereas homeostasis model assessment of insulin resistance (HOMA-IR) was calculated in all individuals studied. Results: Patients and controls presented similar weight, BMI, abdominal perimeter, and total fat body mass. Patients with RTHβ demonstrated higher total cholesterol (TC), p = 0.04, and low-density lipoprotein cholesterol (LDL-C), p = 0.03, but no alteration was observed in other parameters associated with metabolic risk, such as leptin, TNF-α, and CRPus. Two adult patients met the criteria for metabolic syndrome. There was no evidence of insulin resistance assessed by HEC or HOMA-IR. Elevated IL-6 levels were observed in patients with RTHβ. Conclusion: Using HEC as the gold standard method, no evidence of reduced insulin sensitivity in skeletal muscle was documented in RTHβ adult patients; however, higher levels of TC and LDL-C were observed in these patients, which suggest the need for active monitoring of this abnormality to minimize cardiometabolic risk. In addition, we demonstrated, for the first time, that the increase in IL-6 levels in patients with RTHβ is probably secondary to metabolic causes as they have normal levels of TNF-α and CRPus, which may contribute to an increase in cardiovascular risk. A larger number of patients must be studied to confirm these results.

2024-05-01·Headache: The Journal of Head and Face Pain

OnabotulinumtoxinA as a promising treatment for primary trochlear headache: A retrospective case series

Article

作者: Jaimes, Alex ; Pajares, Olga ; Rodríguez‐Vico, Jaime ; Gómez, Andrea

AbstractObjectivesTo report the efficacy of onabotulinumtoxinA (BoNTA) injections in relieving pain in patients with primary trochlear headache (PRTH).MethodsExamination of medical records for patients diagnosed with PRTH according to the International Classification of Headache Disorders, 3rd edition criteria and treated with BoNTA. Data were collected for variables related to pain relief, duration of effectiveness, and adverse effects.ResultsSix patients were included in the study. All had previously undergone standard care interventions, including infiltrations or oral treatments, yet experienced treatment failure or symptom recurrence. All patients received 20 units of BoNTA, administered in the corrugator and procerus muscles. Subsequent to the BoNTA injections, all six patients reported substantial pain relief, with five achieving complete remission of symptoms. The analgesic effect persisted for a duration of 3 months. No adverse events were reported in any of the cases.ConclusionsOur case series presents the first evidence of the potential of BoNTA as a safe and effective treatment option for PRTH. From a clinical standpoint, having a safer alternative is of paramount significance for patients with limited treatment options, such as those with PRTH. Further research is warranted to validate these findings and explore the long‐term efficacy of BoNTA in PRTH management.

2024-04-23·JCEM Case Reports

THRB Gene Mosaicism Confirmed by Next-Generation Sequencing in a Clinically Symptomatic Infant

作者: Leung, Hoi Shan ; Kwok, Jeffrey Sung Shing ; Lam, Wai Kei Jacky ; Subramaniam, Shreenidhi Ranganatha ; Wong, Sammy Wai Chun ; Cheng, Jenny Yeuk Ki

AbstractA 4-day-old infant was admitted for neonatal jaundice. He had persistent tachycardia and tachypnea. Initial workup showed a serum free T4 of 75.6 pmol/L (5.87 ng/dL) (reference range: 11.5-28.3 pmol/L; 0.89-2.20 ng/dL) and a nonsuppressed TSH 3.76 mIU/L (reference range: 0.72-11.0 mIU/L). A TRH stimulation test showed an exaggerated TSH response with a peak of 92.1 mIU/L at 30 minutes after TRH injection, which suggested the diagnosis of resistance to thyroid hormone β syndrome. Sanger sequencing showed a questionable pathogenic variant in the THRB gene with low signal amplitude. Restriction fragment length polymorphism was consistent with its presence. The variant was originally reported as heterozygous. Next-generation sequencing was performed on blood and buccal swab samples of the patient and his parents, which confirmed this de novo mosaic variant NM_000461.5:c.1352T > C p.(Phe451Ser) in the patient but not in his asymptomatic parents. As it was in a mosaic state, only the offspring, but not other first-degree relatives, of the patient would have the risk of inheriting that variant.

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