Article
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood.
Clinical endocrinology - 1 Nov 2017
Vigone Maria Cristina, Di Frenna Marianna, Guizzardi Fabiana, Gelmini Giulia, de Filippis Tiziana, Mora Stefano, Caiulo Silvana, Sonnino Micol, Bonomi Marco, Persani Luca, Weber Giovanna
Abstract excerpt
OBJECTIVE: Mutations in TSH receptor (TSHR) are associated with TSH resistance, a genetic defect characterized by a heterogeneous phenotype ranging from severe hypothyroidism to subclinical hypothyroidism (SCH). We assessed the clinical and hormonal pattern of TSHR variants in a series of pediatric patients, and the long-term outcome of growth, biochemical measurements of metabolism, and neuropsychological...
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