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 functions in TSHR mutations carriers.
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood / 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. - In: CLINICAL ENDOCRINOLOGY. - ISSN 0300-0664. - (2017). [Epub ahead of print] [10.1111/cen.13387]
Mild TSH resistance: Clinical and hormonal features in childhood and adulthood
WEBER, GIOVANNAUltimo
2017-01-01
Abstract
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 functions in TSHR mutations carriers.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
