Resistance to thyrotropin

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...

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Published inBaillière'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
LanguageEnglish
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
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Summary: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 hyperthyrotropinemia to severe congenital hypothyroidism with thyroid hypoplasia. Conceptually, defects leading to RTSH impair both aspects of TSH-mediated action, namely thyroid hormone synthesis and gland growth. These include inactivating mutations in the genes encoding the TSH receptor and the PAX8 transcription factor. A common third cause has been genetically mapped to a locus on chromosome 15, but the underlying pathophysiology has not yet been elucidated. This review provides a succinct overview of currently defined causes of nonsyndromic RTSH, their differential diagnoses (autoimmune; partial iodine organification defects; syndromic forms of RTSH) and implications for the clinical approach to patients with RTSH.
ISSN:1521-690X
1878-1594
DOI:10.1016/j.beem.2017.03.004