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59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

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The 59th ESPE Annual Meeting will now be held online in September 2021.

ePoster Category 1

Thyroid B

hrp0094p1-191 | Thyroid B | ESPE2021

The Impact of Hospital Surgical Volume on Healthcare Utilisation Outcomes after Paediatric Thyroidectomy

Chesover Alexander , Eskander Antoine , Griffiths Rebecca , Pasternak Jesse , Pole Jason , Wolter Nikolaus , Wasserman Jonathan ,

Background: A positive relationship between an individual surgeon’s operative volume and clinical outcomes after paediatric and adult thyroidectomy is well-established. The impact of a hospital’s paediatric operative volume on surgical outcomes and healthcare utilisation, however, are infrequently reported. We investigated associations between hospital volume and healthcare utilisation outcomes following paediatric thyroidectomy in Canada’s larg...

hrp0094p1-192 | Thyroid B | ESPE2021

Analysis of hypothyroidism NGS test in Korean patients with congenital hypothyroidism in a single center

Jung So Yoon , Lee Jeongho ,

Introduction: Thyroid hormone is known as greatly influence on growth and development in fetuses and newborns. If the detection of the disease is delayed, hypothyroidism can cause irreversible damage, so early detection and treatment is very important. Hypothyroidism can be divided into permanent and temporary cases depending on the duration of treatment, but there is no predictor that can completely differentiate those two. However, as genes related to hypoth...

hrp0094p1-193 | Thyroid B | ESPE2021

Further evidence that Borealin/CDCA8 is involved in thyroid morphogenesis and aging

Didier-Mathon Hortense , Stoupa Athanasia , Karyiawasam Dulanjalee , Yde Sonny , Cagnard Nicolas , Nitschke Patrick , Scharfmann Raphael , Luton Dominique , Polak Michel , Carre Aurore ,

Background: We found BOREALIN/CDCA8 mutations in patients with Congenital Hypothyroidism and Thyroid Dysgenesis, varying from asymmetric lobes to athyreosis (Carré et al. Hum Mol Genet 2017). Borealin is a major component of the Chromosomal Passenger Complex, an essential regulator of mitosis. We demonstrated a new feature of BOREALIN: involvement in the adhesion and the migration of the thyrocytes.<strong...

hrp0094p1-194 | Thyroid B | ESPE2021

Role of Next Generation Sequencing in the etiological diagnosis of congenital hypothyroidism with gland in situ

Di Natale Valeria , Ortolano Rita , Menabo Soara , Bettocchi Ilaria , Marzatico Alice , Scozzarella Andrea , Ferrari Simona , Pession Andrea , Cassio Alessandra ,

The pathogenetic role of genetic factors in congenital hypothyroidism (CH) is now widely known. The constant evolution of diagnostic methods in the field of medical genetics provides the opportunity to obtain an etiological diagnosis in CH patients with genetic defects in candidate genes. We performed genetic analysis by Next Generation Sequencing (NGS) of 18 candidate genes (DUOX2, DUOXA2, FOXE1, GLIS3, IGSF1, IYD, NKX2-1, NKX2-5, PAX8, SLC16A2, SLC26A4, SLC5A5, TG, THRA,...

hrp0094p1-195 | Thyroid B | ESPE2021

DNA Methylation at a nutritionally sensitive region of the PAX8 gene is associated with thyroid volume and function in Gambian children

Candler Toby , Kessler Noah , Gunasekara Chathura , Ward Kate , James Phil , Dyer Roger , Elango Rajavel , Waterland Robert , Moore Sophie , Ludgate Marian , Prentice Andrew , Silver Matt ,

Background: Thyroid hormones contribute to a wide range of physiological processes and health outcomes. Epigenetic regulation of thyroid development and function has been little explored. PAX8 (Paired Box 8) is a thyroid transcription factor implicated in thyroid gland development and differentiation. PAX8 gene methylation appears to be sensitive to the environment in early pregnancy.Methods and Findings: Using a recall-by-epige...

hrp0094p1-196 | Thyroid B | ESPE2021

Clinical and Molecular Presentation of Congenital Hypothyroidism Caused by Thyroglobulin Gene Mutations

Bakhamis Sarah , AlSagheir Afaf , AlShareef Itizan ,

Background: Congenital hypothyroidism (CH) characterized by a deficient secretion of thyroid hormone in newborn. It is the most common endocrine disease in the children with an incidence rate about 1: 3000 live births in Saudi Arabia. Thyroid dysgenesis and dyshormonogenesis are the most common causes. Thyroid dyshormonogensis commonly inherited as autosomal recessive disorders. Although Thyroglobulin followed by TSHR mutations are the most common genetic defe...

hrp0094p1-197 | Thyroid B | ESPE2021

Management of newborns born to mothers with autoimmune hypothyroidism

Cavarzere Paolo , Palma Laura , Camilot Marta , Vincenzi Monica , Teofoli Francesca , Principe Lara Nicolussi , Gaudino Rossella , Murri Virginia , Pepaj Orsiol , Lubrano Luigi , Rossi Giuliana , Sallemi Alessia , Fattori Ermanna , Lauriola Silvana , Antoniazzi Franco ,

Background: Maternal autoimmune hypothyroidism can have negative consequences on the fetus: on the one hand, maternal hypothyrosinemia might affect the fetal brain development in the early stages of pregnancy; on the other, thyroid inhibiting antibodies can pass through the placenta. It is currently unclear if these antibodies may affect the newborn’s thyroid function. Consequently, there are no certain indications regarding the management of newborns bor...

hrp0094p1-198 | Thyroid B | ESPE2021

Novel single nucleotide variation in DUOX2 and NPTX1 genes in two Sardinian sisters with transient congenital hypothyroidism

Ibba Anastasia , Guzzetti Chiara , Casula Letizia , Murianni Agnese , Persani Luca , Loche Sandro ,

Introduction: Transient congenital hypothyroidism (TCH) refers to a temporary deficiency of thyroid hormone identified after birth, with low thyroxine (T4) and elevated thyrotropin (TSH). Approximately 17%-40% of children diagnosed with CH by newborn screening (NBS), have transient hypothyroidism. Levo-thyroxine (L-T4) early treatment is recommended at the dose 10-15 µg/kg/day. Children with thyroid gland in situ should be re-evaluated after the ...

hrp0094p1-199 | Thyroid B | ESPE2021

New p.Ser237Asn Activating Mutation At The TSHR Receptor, Causing Familial Non- Autoimmune Hyperthyroidism

Bossowski Artur , Grigore Teodora , Makkonen Kristiina , Bossowski Filip , Jannari Meeri , Kero Jukka ,

Background: The pathogenesis of hyperthyroidism varies greatly, with familial non-autoimmune autosomal dominant hyperthyroidism being a rare cause. In patients who are genetically related, thyrotoxicosis develops without the clinical features of autoimmunity. In this study, we present five family members with familial hyperthyroidism who have a confirmed mutation of p.Ser237Asn in the TSHR receptor.Case Report: Our patient, a 13,5- year-...

hrp0094p1-200 | Thyroid B | ESPE2021

Functional studies of PAX8 gene variants in patients affected by congenital hypothyroidism with eutopic thyroid gland

Camats Nuria , Baz-Redon Noelia , Fernandez-Cancio Monica , Clemente Maria , Campos-Martorell Ariadna , Antolin Maria , Soler Laura , Yeste Diego ,

Introduction: Thyroid dyshormonogenesis is a heterogeneous group of hereditary diseases produced by the total/partial blockage of the biochemical processes involved in thyroid-hormone synthesis and secretion. Many genes are involved in this process. PAX8 is a transcription factor essential for thyroid-gland morphogenesis and synthesis of thyroid hormones, since it activates TG, TPO and TSHR gene transcription. More than 50 PAX8</...