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...

ea0026p381 | Thyroid (non cancer) | ECE2011

ESE Young Investigator Award

Moia Stefania , Prodam Flavia , Monzani Alice , Bellone Simonetta , Riccomagno Stefania , Walker Gillian , Trovato Letizia , Roccio Marta , Agretti Patrizia , Bona Gianni

TSH receptor (TSHR) is a G-protein-coupled seven-transmembrane domain receptor located in the basolateral membrane of thyroid follicular cells. The activated receptor couples to two major signal transductions pathways: the Gs/adenylate cyclase and the Gq/11/phospholipase C signalling. Many loss of function mutations have been identified in this gene leading to a wide spectrum of thyroid abnormalities, ranging from hyperthyrotropinemia and TSH resistance to severe hypothyroidis...

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...

ea0014p274 | (1) | ECE2007

The endocrine disruptor DDT appears to be an uncompetitive inverse agonist for activating TSHr mutants, FSH receptor and LH receptor

Montanelli Lucia , Ferrarini Eleonora , Dimida Antonio , Rossi Mario , Agretti Patrizia , Giorgi Franco , Corsini Giovanni Umberto , Pinchera Aldo , Vitti Paolo , Maggio Roberto , Tonacchera Massimo

The insecticide DDT has been shown to inhibit both the basal and the TSH stimulated accumulation of cAMP in CHO stably transfected with the TSHr (CHO-TSHr). Aim of this study was to evaluate whether the DDT has a similar effect on cells transfected with TSHr mutants displaying a high level of constitutive activity. In addition we investigate the effect of DDT on cells transfected with wtFSHr and wtLHr which share a high degree of amino-acid homology sequence with wtTSHr. In co...

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...