Thyroid Hormone Resistance: Multicentrical Case Series Study

• Published in: Hormone and metabolic research Vol. 54; no. 2; pp. 67 - 75
• Main Authors: Santos Mata, Maria Angeles, Ariza Jimenez, Ana Belen, Macias Lopez, Francisco, de la Camara Moraño, Carmen
• Format: Journal Article
• Language: English
• Published: Rüdigerstraße 14,70469 Stuttgart, Germany Georg Thieme Verlag 01.02.2022
• Subjects: Endocrine Care; symptoms; treatment; diagnosis; resistance to thyroid hormone; thyroid receptor
• ISSN: 0018-5043; 1439-4286
• DOI: 10.1055/a-1725-8533

Abstract Resistance to thyroid hormone syndrome (RTHS) is defined as increased thyroxine and triiodothyronine associated with normal or increased thyrotropin. This is usually due to a pathogenic variant of the gene coding for thyroid hormone receptor B (THRB). THRB is a rare genetic disorder characterized by an altered response of target tissue to the thyroid hormone action. Retrospective cross-sectional observational study with diagnosis of RTHS evaluated in secondary and tertiary hospitals for 6 years, from 2014 to 2020, in order to describe variables including age, sex, anthropometric data, clinical and biochemical characteristics of patients, who were divided according to age, in a pediatric group from 0 to 14 years (index cases), and an adult group composed of adult relatives of index cases. A molecular analysis of the THRB gene was performed. The total retrospective cohort included 7 pediatric patients and 15 adults. We found 22 cases with a clear male predominance (14/22). Mean age is 24.8 years old (22 days-70 years). Patients were referred because of symptoms 18.2% (4/22), analysis results 22.7% (5/22), or familial study 59.1% (13/22). About 31.8% (7/22) cases show goiter, 31.8% (7/22) sympathetic symptoms and 13.6% (3/22) abnormalities in behavior. In most cases, 77.3%, (17/22) show familial background of thyroid abnormalities. It is important to remark that 18.2% (4/22) relatives received previous incorrect treatments such as thyroidectomy, because of wrong diagnosis. In conclusion, a better understanding of RTHS, its prompt molecular diagnosis and genetic counseling, could avoid unnecessary tests and inappropriate treatments.