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hrp0082p2-d1-587 | Thyroid | ESPE2014

Mutation of the TSH Receptor Gene: a Longitudinal Study in Children with Non-Autoimmune Subclinical Hypothyroidism

Vigone Maria Cristina , Sonnino Micol , Guizzardi Fabiana , Frenna Marianna Di , Caiulo Silvana , Gelmini Giulia , Persani Luca , Weber Giovanna

Background: Neonatal screening strategies revealed an increase in hypothyroidism associated with an in-situ thyroid gland due to TSH receptor (TSHR) mutations. While there are many genetic and functional studies regarding TSHR mutations, few are found concerning the clinical course and long-term outcome of TSH resistance involving the pediatric population.Objective and hypotheses: To determine the impact of TSHR mutations on clinical course, biochemical ...

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hrp0092p1-420 | Thyroid (2) | ESPE2019

The Genetic and Clinical Characteristic of Pediatric Patients with Congenital Hypothyroidism Gland In-Situ

Cristina Vigone Maria , Saracco Luca , Vincenzi Gaia , Caiulo Silvana , Di Frenna Marianna , Persani Luca , De Filippis Tiziana , Guizzardi Fabiana , Grazia Patricelli Maria , Spiga Ivana , Weber Giovanna

Introduction: The underlying genetic causes of congenital hypothyroidism with gland in-situ (CH GIS) and hyperthyrotropinemia (HT) remain largely a mystery. Thanks to NGS, genetic screening is now finding many novel variants. The challenge is to correctly identify which genes and which variants lead to CH and which cause only a transient HT.Objectives: Our objectives were to evaluate the presence of variants in 14 candid...

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ESPE Abstracts

Mutation of the TSH Receptor Gene: a Longitudinal Study in Children with Non-Autoimmune Subclinical Hypothyroidism

The Genetic and Clinical Characteristic of Pediatric Patients with Congenital Hypothyroidism Gland In-Situ

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