Resistance to thyrotropin

• Published in: Baillière's best practice & research. Clinical endocrinology & metabolism Vol. 31; no. 2; pp. 183 - 194
• Main Authors: Grasberger, Helmut, M.D, Refetoff, Samuel, M.D
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Ltd 01.03.2017
• Subjects: congenital hypothyroidism; Congenital Hypothyroidism - complications; Congenital Hypothyroidism - genetics; Drug Resistance; Endocrinology & Metabolism; hormone resistance; Humans; Mutation; mutations; PAX8; Receptors, Thyrotropin - genetics; subclinical hypothyroidism; Syndrome; Thyroid Dysgenesis - complications; Thyroid Dysgenesis - genetics; Thyroid Hormones - metabolism; Thyrotropin - genetics; Thyrotropin - physiology; TSHR; hormone resistance; mutations; PAX8; Thyrotropin receptor; subclinical hypothyroidism; congenital hypothyroidism; TSHR; paired domain

Abstract Resistance to thyrotropin (RTSH) is broadly defined as reduced sensitivity of thyroid follicle cells to stimulation by biologically active TSH due to genetic defects. Affected individuals have elevated serum TSH in the absence of goiter, with the severity ranging from nongoitrous isolated h...