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...

ea0084ps1-02-15 | Hypothyroidism | ETA2022

Use of iodine in the treatment of congenital hypothyroidism with an in situ thyroid gland and of non-autoimmune subclinical hypothyroidism

Pignata Luisa , Montanelli Lucia , Bagattini Brunella , Sciarroni Elisabetta , Agretti Patrizia , De Marco Giuseppina , Ferrarini Eleonora , Tonacchera Massimo , Di Cosmo Caterina

Introduction: Congenital hypothyroidism (CH) with in situ thyroid gland (GIS) and non-autoimmune subclinical hypothyroidism (NASI) are functional defects of thyroid gland occurring at birth and after birth, respectively. In recent years, a higher incidence of these disorders has been documented. The etiology remains unclear, with only an almost 50% of cases attributable to mutations in known dyshormonogenesis-associated or TSH-receptor genes. Although replacement ther...

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...

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...

ea0084ps1-02-14 | Hypothyroidism | ETA2022

A case of late-onset dyshormonogenic goiter with hypothyroidism due to a homozygous mutation of SLC26A7 gene

Sciarroni Elisabetta , Comi Simone , Montanelli Lucia , Latrofa Francesco , Brancatella Alessandro , Di Cosmo Caterina , De Marco Giuseppina , Ferrarini Eleonora , Pignata Luisa , Tonacchera Massimo , Agretti Patrizia

Introduction: Congenital hypothiroidism (CH) is the most common neonatal endocrine disorder, affecting up to one in 1500 to 2000 newborns, if mild forms of hypothyroidism with eutopic and normal-sized thyroid gland are included. It is caused by either dysgenesis or dyshormonogenesis. Recently a novel iodide transporter, SLC26A7 (a member of the SLC26 transporter family), whose dysfunction affects thyroid hormonogenesis in humans, has been identified. The main purpose of this s...

ea0092ps3-23-04 | Pregnancy | ETA2023

Physical development, neuropsychological health and quality of life in a group of adult subjects with congenital hypothyroidism early treated with levothyroxine after newborn screening

Pignata Luisa , De Marco Giuseppina , Ferrarini Eleonora , Agretti Patrizia , Di Cosmo Caterina , Bagattini Brunella , Sciarroni Elisabetta , Tonacchera Massimo , Bargagna Stefania , Montanelli Lucia

Background: The introduction of newborn screening for congenital hypothyroidism (CH) has led to prevent the most serious consequences of precocious deficit of thyroid hormone during child development, particularly neurological disability. However, little is known about long-term physical and psycho-social outcomes of CH after screening introduction.Objective: To evaluate physical and neuropsychological development and Quality of Life (QoL) in adult subje...

ea0101op-08-04 | Oral Session 8: Pregnancy | ETA2024

Fluid intelligence evaluation through raven’s progressive matrices in adult patients with congenital hypothyroidism detected by neonatal screening

Pignata Luisa , De Marco Giuseppina , Ferrarini Eleonora , Agretti Patrizia , Di Cosmo Caterina , Bagattini Brunella , Sciarroni Elisabetta , Santini Ferruccio , Lippi Chita , Tonacchera Massimo , Montanelli Lucia

Background: Congenital hypothyroidism (CH) is the most frequent cause of preventable cognitive deficit. With newborn screening program, natural history of this disease has changed thanks to the precocious treatment with levothyroxine (LT4). In a previous study we evaluated psychosocial outcome and quality of life of 62 adults with primary CH diagnosed in the screening era, finding only small differences from controls in concentration ability and mood, while social and work ada...

ea0092ps3-23-06 | Pregnancy | ETA2023

Iodine nutrition in italian pregnant women: preliminary results of a multicenter study

De Angelis Simona , Rotondi Daniela , Bagnasco Marcello , Boi Francesco , Bonofiglio Daniela , Mariotti Stefano , Mian Caterina , Moleti Mariacarla , laura Tanda Maria , Tonacchera Massimo , Vermiglio Francesco , Ulisse Salvatore , Medda Emanuela , Sorbo Angela , D'Amato Marilena , Chiara Turco Anna , Ferrarini Eleonora , De Marco Giuseppina , Russo Giampiero , Morelli Michele , Sanna Stefania , Corongiu Margherita , Musso Laura , Giovanna Perdichizzi Laura , Olivieri Antonella

Background and objectives: Recent data on median urinary iodine concentration (UIC) in schoolchildren showed that Italy has achieved iodine sufficiency. Nevertheless, no national data on iodine nutrition in pregnancy are available. Therefore, a multicentre study coordinated by the Italian National Observatory for Monitoring Iodine Prophylaxis (OSNAMI), was launched in 8 Italian regions representative of the Northern (Lombardy, Veneto, Liguria), Central (Tuscany, Lazio) and Sou...