Searchable abstracts of presentations at key conferences in endocrinology

ea0081p701 | Reproductive and Developmental Endocrinology | ECE2022

Evolution of congenital hypothyroidism with in situ thyroid gland in children and adolescents

Pignata Luisa , Bagattini Brunella , Montanelli Lucia , Agretti Patrizia , De Marco Giuseppina , Ferrarini Eleonora , Orsolini Francesca , Tonacchera Massimo

Background: In recent years, increasing cases of congenital hypothyroidism (CH) with in situ thyroid gland are identified. Outcome of children affected from CH with normally sited thyroid of normal size is still unknown. The objective of our study is to describe the natural history of this specific form of CH. Patients and methods: We retrospectively evaluated clinical, biochemical and instrumental data of 74 patients with diagnosis of CH with in situ thyroid...

ea0070aep790 | Reproductive and Developmental Endocrinology | ECE2020

Clinical evaluation and genetic analysis of patients affected by premature ovarian insufficiency: Identification and characterization of a new mutation of the BMP-15

Orsolini Francesca , Ferrarini Eleonora , Agretti Patrizia , De Marco Giuseppina , Di Cosmo Caterina , Benelli Elena , Fruzzetti Franca , Tonacchera Massimo

Background: Premature ovarian insufficiency (POI) is an ovarian defect characterized from primary or secondaryamenorrhea, high levels of FSH (> 25 UI/l) and low levels of estrogen, which occurs before age 40.Objective: The aim of the study was to evaluate the clinical features and genetic causes of a group of 68 patients with POI.Methods: We performed anamnestic and clinical evaluation, hormonal and autoimmunity assessment, pel...

ea0084ps1-02-16 | Hypothyroidism | ETA2022

Evolution of congenital hypothyroidism with in situ thyroid gland in children and adolescents: Clinical and biochemical features at diagnosis and after retesting

Bagattini Brunella , Agretti Patrizia , De Marco Giuseppina , Ferrarini Eleonora , Orsolini Francesca , Sciarroni Elisabetta , Tonacchera Massimo , Montanelli Lucia , Pignata Luisa

Background: In recent years, increasing cases of congenital hypothyroidism (CH) with in situ thyroid gland (GIS) are identified. Outcome of children affected from CH with normally sited thyroid of normal size is still unknown. The objective of our study is to describe the natural history of this specific form of CH.Methods: We retrospectively evaluated clinical, biochemical and instrumental data of 89 patients with diagnosis of CH and GIS, refer...