Searchable abstracts of presentations at key conferences in endocrinology

ea0059oc5.1 | Adrenal | SFEBES2018

Timed urinary steroid profiling of patients with different degrees of cortisol excess: a proposal for a new test for the diagnosis of Cushing’s syndrome

Prete Alessandro , Taylor Angela E , Schiffer Lina , Nestola Manuela , Pignata Luisa , Corsello Salvatore M , Arlt Wiebke

Background: Cushing’s syndrome (CS) is caused by endogenous cortisol excess and is associated with significant morbidity. Twenty-four-hour urinary cortisol is one of the most useful tools to diagnose CS although it has limitations, especially in “mild” and “subclinical” forms of cortisol excess. We hypothesized that given the diurnal rhythm of physiological cortisol secretion, night-time urinary glucocorticoid excretion should be lower than day-time ex...

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...

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...