hrp0098fc12.6 | Thyroid | ESPE2024

The First Robust Bioavailability/Bioequivalence (BA/BE) Study of Thyromimetic Tiratricol, a Treatment in Development for MCT8 Deficiency.

Sonesson Christian , Carroll Kevin , Singh Nand , McDermott John , Sjöblom Nygren Kristina , Näsström Jacques , Paul A Dickinson

Background and Objectives: MCT8 deficiency is a debilitating, ultra-rare, X-linked disorder resulting from dysfunctional thyroid hormone (TH) transport. A lack of TH in the brain results in profound neurodevelopmental delay while a co-existing excess of TH in tissues outside the brain leads to symptoms of chronic thyrotoxicosis. Tiratricol is a naturally occurring metabolite of triiodothyronine (T3) that clinical trials have shown can restore normal TH signall...

hrp0095p1-417 | Adrenals and HPA Axis | ESPE2022

A patient with autoimmune polyglandular syndrome type 1 with atypical presentation

Bazdarska Yuliya , Yordanova Nikolinka , Hristozova Hristina , Krumova Darina , Iotova Violeta

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is а rare multisystem disorder due to mutations in the autoimmune regulator gene (AIRE). APS-1 usually is characterized by a triad of hypoparathyroidism, primary adrenal insufficiency (PAI) and chronic mucocutaneous candidiasis. In the absence of the classic triad, the diagnosis becomes obscure and is often delayed.Case presentation: We report a 12 years ol...

hrp0095p2-182 | Growth and Syndromes | ESPE2022

Persistent leukocytosis in a Noonan syndrome-neurofibromatosis type 1 patient treated with recombinant human growth hormone

Deyanova Yana , Iotova Violeta , Hristozova Hristina , Kaleva Valeria

Introduction: Noonan syndrome-Neurofibromatosis type 1 (NSNF) is a genetic disorder characterized with clinical features of both Noonan syndrome (NS) and neurofibromatosis type 1 (NF1). Recombinant human growth hormone (rhGH) has been widely used in NS patients as well as in some patients with NF1 but there are only a few published cases of rhGH treated NSNF patients. We report a patient with NSNF with short stature who started rhGH treatment with subsequent p...

hrp0089rfc6.3 | Fat, Metabolism and Obesity | ESPE2018

Effect of the Melanocortin-4 Receptor Agonist, Setmelanotide, on Obesity and Hyperphagia in Individuals Affected by Bardet-Biedl Syndrome

Haws Robert M , Fletty Kristina L , McIntee Thomas J , Green Clayton , Pomeroy Jeremy , Hylan Michelle , Folster Cathy , Davis Elisabeth K , Brady Sheila M , Fiedorek Fred T , Yanovski Jack A

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...

hrp0094fc4.2 | Diabetes | ESPE2021

A Randomised Controlled Cross-Over Trial of the Hybrid Closed-Loop Insulin Delivery System Diabeloop vs. Sensor-Augmented Pump Therapy in Children Aged 6-12 Years

Kariyawasam Dulanjalee , Morin Carole , Casteels Kristina , Tallec Claire Le , Sfez Annie , Godot Cecile , Huneker Erik , Garrec Nathalie , Polak Michel , Charpentier Guillaume , Franc Sylvia , Beltrand Jacques ,

Introduction: HbA1C goals are rarely achieved in children with Type 1 diabetes (T1D) except at the cost of increased hypoglycaemia episodes. The Diabeloop Hybrid Closed-Loop system improves time in range and glycemic control in adults. However, the efficacy and safety of the system had not yet been evaluated in children. Our objective was to evaluate the safety and efficiency of the Diabeloop hybrid closed-loop system in prepubescent children (DBL4K).<p cl...

hrp0086p1-p136 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Growth Characteristics of a Girl with Multicentric Carpo-Tarsal Osteolysis Caused by Novel Mutation in the MAFB Gene

Dusatkova Lenka , Potuznikova Kristyna , Zemkova Daniela , Marik Ivo , Rozenkova Klara , Lebl Jan , Pruhova Stepanka , Sumnik Zdenek

Background: Recently, mutations in the highly conserved transactivation domain of MAFB gene have been identified as a cause of multicentric carpo-tarsal osteolysis (MCTO), rare skeletal disorder characterised by extensive bone resorption predominantly of the carpal and tarsal bones and frequently accompanied by progressive renal impairment. The MAFB is a basic leucine zipper transcription factor that is involved in the regulation of osteoclastogenesis and renal develo...

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-...

hrp0089p2-p408 | Thyroid P2 | ESPE2018

The Congenital Hypothyroidism Screening Programme in a Sigle Italian Centre: a 5-Years Retrospective Study

Maggio Maria Cristina , Ragusa Saveria Sabrina , Aronica Tommaso Silvano , Granata Orazia Maria , Gucciardino Eleonora , Corsello Giovanni

Congenital hypothyroidism (CH) occurs in approximately 1:2000–1:3000 newborns in Italy. Lowering of the TSH cut-off was the most important factor contributing to the increase of CH incidence in Italy. The aim of this study is the determination of the prevalence of CH in northwest Sicily, evaluated by the single screening centre of the Children Hospital ‘G. Di Cristina’, ARNAS, Palermo. From January 2013 to December 2017, 79.699 newborns were screened testing TSH...

hrp0095fc10.5 | GH and IGFs | ESPE2022

Features and outcomes of syndromic vs non-syndromic children born small for gestational age (SGA) under growth hormone therapy in a Belgian cohort

Becker Marianne , Thomas Muriel , Brachet Cécile , Heinrichs Claudine , Dotremont Hilde , Logghe Karl , Casteels Kristina , Rochtus Anne , Klink Daniel , Cools Martine , De Waele Kathleen , Parent Anne-Simone , Massa Guy , Staels Willem , Gies Inge , Lysy Philippe , Beckers Dominique

Background and Aim: A substantial proportion of SGA patients have a syndrome underlying their growth restriction. Most SGA cohorts comprise both syndromic (S-SGA) and non-syndromic patients (nonS-SGA) impeding delineation of the recombinant human growth hormone (rhGH) response. We present a detailed characterization of the Belgian SGA cohort and analyze rhGH response based on adult height (AH).Patients & Methods: Cli...

hrp0094p1-45 | Sex Endocrinology and Gonads A | ESPE2021

Bilateral testicular regression: genetic etiology and outcome in a large Belgian series

Tack Lloyd , Brachet Cecile , Heinrichs Claudine , Boros Emese , De Waele Kathleen , Straaten Saskia vander , Aken Sara Van , Craen Margarita , Lemay Annelies , Rochtus Anne , Casteels Kristina , Beckers Dominique , Mouraux Thierry , De Baere Elfride , Verdin Hannah , Cools Martine ,

Background: Bilateral testicular regression (BTR) is characterized by the absence of both testicles in a newborn male or shortly thereafter, and presenting as bilateral cryptorchidism with undetectable AMH levels and the absence of Müllerian structures on pelvic ultrasound. Depending on when the regression occurs during fetal development, the condition can be associated with a micropenis. Few studies have explored the etiology and long-term outcome of BTR...