ESPE Abstracts

Introduction: The underlying genetic causes of congenital hypothyroidism with gland in-situ (CH GIS) and hyperthyrotropinemia (HT) remain largely a mystery. Thanks to NGS, genetic screening is now finding many novel variants. The challenge is to correctly identify which genes and which variants lead to CH and which cause only a transient HT.Objectives: Our objectives were to evaluate the presence of variants in 14 candid...

Zinc (Zn) is a crucial trace mineral that regulates the expression and activation of biological molecules such as transcription factors, enzymes, adapters, channels, and growth factors, along with their receptors. Bioinformatics analysis of the human genome discloses that Zn may bind ~ 10% of all of the proteins found in the human organism. This remarkable finding highlights the physiological significance of Zn in molecules involved in cellular processes and thereby i...

Objectives: Subclinical hypothyroidism (SH) is the most common thyroid abnormality in Down Syndrome (DS) children (25-60%); its etiology remains still not completely clarified. Aim of this prospective multicenter study was to evaluate prevalence and natural course of autoimmune and non-autoimmune SH in a large cohort of DS children and adolescents.Methods: The study population included 101 DS patients with SH (TSH 5-...

Introduction: Although there are several studies on the incidence of congenital hypothyroidism (CH), there are few data showing incidence and evolution of CH detected by the second newborn screening (NBS).Objectives: To assess the incidence of CH in Lombardia region and the percentage of patients identified by the 2ndNBS. To describe the clinical features and evolution of CH patients detected by the 2nd</...

Background: Children and adults with chronic thyroid disorders (TD) need continuous monitoring as periods of inadequate thyroid hormone substitution can impact metabolism, puberty and fertility. Transition from pediatric to adult-oriented care is often characterized by discontinuity in care resulting in poor health outcomes and impaired quality of life. Transition care (TC) for young adults with TD remains largely unknown.Objecti...

Resistance to thyroid hormone due to mutations inactivating thyroid hormone receptor-Beta occurs in one in 40,000 individuals and can arise de novo or be inherited, generally in a dominant fashion. Clinical manifestations are widely variable and include failure to thrive in infancy. The biochemical diagnosis is usually straightforward: high serum fT4 and non-suppressed TSH.We report two brothers who both inherited the known c.728G>A, p.R24...

Background: Resistance to thyroid hormone beta (THRβ) is a clinical spectrum which varies in presentation even between individuals with the same mutation. Life-threatening cardiac dysfunction is recognized in homozygous THRβ state but never reported in cases of inherited heterozygous THRβ defects.Aim: We report the first case of familial inherited heterozygous (THRB) beta mutation presenting with ...

Introduction: A 23-month-old male was admitted for evaluation of an enlarging neck mass, persistent rash, and periorbital edema.Case Description: The toddler had a strikingly large neck mass which had rapidly progressed over 1 month. He presented with a pustular and petechial rash primarily on his scalp which had been unresponsive to multiple treatment modalities. Initial work-up for his neck mass revealed a TSH of 19.7m...

Introduction: The association between ATD and AIG is very poorly characterized in pediatric age. We review the prevalence of the anti-gastric parietal cells antibodies (APCA) in young patients with ATD and we evaluated the development of AIG during follow-up, in order to define the usefulness of these markers for AIG screening in these patients.Patients and Methods: We evaluated 220 children and adolescents (11.28 ±...

Objective: To analyze the genetic cause of congenital hypothyroidism by targeted exome sequencing in pediatric patients with congenital hypothyroidism with thyroid gland in situ.Patient and Method: The study population comprised 20 patients with thyroid gland, who were diagnosed with congenital hypothyroidism at Pediatric Endocrinologic Clinic of Pusan National University Hospital. Targeted exome sequencing was ...

Backround: Hereditary inborn errors of thyroid hormone synthesis account for 10-15% of congenital hypothyroidism (CH). Thyroid peroxidase (TPO) deficiency is the most common enzymatic defect with a frequency of 50-90%.Aim: In the present study our objective was to characterize the long-term clinical outcome in patients with TPO deficiency and to assess the association between development of multinodular goiter (M...

Backgrounds: Perfluoroalkyl compounds (PFCs) have been suggested as potential thyroid disrupting chemicals. However, previous studies about the associations between PFCs and childhood thyroid function are scarce, and inconclusive. We evaluated the PFC exposure in Korean preschool children, and investigated the temporal relationship with thyroid hormone concentration.Methods: From a prospective the Environment and Develop...

Objectives: Assess thyroid volume in relation to TSH and FT4 at diagnosis of AHT and 2.9 years of follow up in children with SH or OH.Methods: wo hundred one children (155 girls) with AHT were divided according to TSH and FT4 levels [SH-FT4 >1.0 ng/dl: Group 1: TSH: 5-7.5 mU/l, Group 2: TSH: >7.5 mU/l, OH: Group 3: TSH>7.5 mU/l and FT4 ≤1.0ng/dl]. Mean L-T4 dose is reported in µg/Kg/day. Thyroid...