Searchable abstracts of presentations at key conferences in endocrinology

ea0029p1611 | Thyroid (non-cancer) | ICEECE2012

Frequency of PDE8B gene polymorphisms in patients affected by sporadic and familiar nonautoimmune subclinical hypothyroidism

Agretti P. , Ferrarini E. , De Marco G. , Dimida A. , Molinaro A. , Niccolai F. , Pinchera A. , Vitti P. , Tonacchera M.

Background: Nonautoimmune subclinical hypothyroidism is characterized by elevated serum levels of TSH in the presence of normal thyroid hormone levels and absence of anti-thyroid antibodies. As a result of a genomic-wide study, a strong association between three polymorphic variants in exon 1 of human phosphodiesterase 8B (PDE8B) gene (rs4704397, rs6885099 e rs2046045) and serum levels of TSH has been recently reported. The aim of the present study was to evaluate the frequenc...

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...

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...

ea0011p823 | Thyroid | ECE2006

Etiology of congenital hypothyroidism in children with a normal located thyroid gland

Di Cosmo C , Tonacchera M , De Marco G , Agretti P , Banco ME , Perri A , Ramos H , Ceccarelli C , Vitti P , Pinchera A

Congenital hypothyroidism (CH) with a normal located thyroid gland may be transient or permanent and environmental, iatrogenic, immunologic or genetic factors can be involved. PAX-8, TSH receptor and THOX2 gene mutations have been identified in cases of CH with a gland of normal size.In this study we performed genetic analysis of PAX8, TSH receptor and THOX2 genes in 14 children with CH and a normal sized eutopic gland. Genomic DNA was extracted from lym...

ea0011p882 | Thyroid | ECE2006

Gene expression profile in functioning and non-functioning nodules of autonomous multinodular goiters from an area of iodine deficiency

Agretti P , de Marco G , de Servi M , Gianetti E , Basolo F , Pinchera A , Vitti P , Tonacchera M

Toxic multinodular goiter is a heterogeneous disease producing hyperthyroidism frequently found in iodine-deficient areas. The aim of this study was to evaluate the gene expression profile of functioning and non-functioning thyroid nodules present in the same thyroid gland from two patients affected by autonomous multinodular goiter by using the Affymetrix technology.Total RNA was extracted from nodular and non nodular tissues, retrotranscribed, and the ...

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...

ea0029p409 | Clinical case reports - Thyroid/Others | ICEECE2012

Severe gestational hypothyroidism due to anti-TSH receptor blocking antibodies

Di Bella B. , Moleti M. , Presti S. , Di Mauro F. , Sturniolo G. , Agretti P. , De Marco G. , Tonacchera M. , Trimarchi F. , Vermiglio F.

Autoimmune hypothyroidism due to thyroid stimulation blocking antibodies (TSB-Ab) is uncommon. When occurring in pregnancy, this condition may be responsible for feto-neonatal complications as a result of both maternal hypothyroidism and trans-placental TSB-Ab transfer to the fetus.Clinical case: September 2010: a 27 year-old woman was diagnosed with autoimmune severe hypothyroidism (TSH 325 mIU/l (n.v 0.4–4.0), FT4 1.54 pmol/l (n.v. 11.5...