hrp0084fc2.3 | Bone & Mineral Metabolism | ESPE2015

High Success of a Next Generation Sequencing Panel for the Molecular Diagnosis of Rare Skeletal Dysplasias

Barreza Jimena , Rivera-Pedroza Carlos I , Sentchordi-Montane Lucia , Vallespin Elena , Montano Victoria E F , Mansilla Elena , Belinchon Alberta , Benito-Sanz Sara , del Pozo Angela , Ibanez Kristina , Gonzalez-Casado Isabel , Guillen-Navarro Encarna , Prieto Pablo , del Pozo Jaime Sanchez , Cruz-Rojo Jaime , Galan Enrique , Lapunzina Pablo , Garcia-Minaur Sixto , Santos-Simarro Fernando , Heath Karen E

Background: A total of 456 skeletal dysplasias have been classified by molecular, biochemical and/or radiological criteria, into 40 groups. Despite this, the precise, final diagnosis is often difficult due to the high phenotypic and genotypic variability.Objective: To improve the molecular and clinical diagnosis of skeletal dysplasias using a custom-designed next-generation sequencing (NGS) panel.Method: A total of 56 skeletal dysp...

hrp0095t6 | Section | ESPE2022

Circulating GDF15 Concentrations in Girls with Low Birth Weight and Precocious Pubarche: Effects of Prolonged Metformin Treatment

Díaz Marta , Carreras-Badosa Gemma , Bassols Judit , de Zegher Francis , López- Bermejo Abel , Villarroya Francesc , Ibáñez Lourdes

Background: Low birth weight (LBW) followed by a rapid postnatal catch-up in weight predisposes individuals to a central distribution of body fat, which is reverted by metformin. Growth-and-differentiation-factor-15 (GDF15) plays an important role in the regulation of energy homeostasis, reducing food intake and lowering body weight. We aimed to assess whether GDF15 concentrations are raised by long-term metformin treatment in LBW/catch-up girls with precociou...

hrp0086p2-p295 | Diabetes P2 | ESPE2016

Ischemic Intestinal Necrosis as a Rare Complication of Diabetic Ketoacidosis in a Child with New-Onset Type I Diabetes: A Case Report

Kim Hyung Jin , Joo Eun-young , Lee Ji-Eun

Background: Diabetic ketoacidosis (DKA) is the leading cause of morbidity and mortality in children with type 1 diabetes (T1DM). Although dehydration and electrolyte imbalance can be present in patients with DKA and T1DM, gastrointestinal tract complication remains unusual, especially in children. We report a child case of newly onset T1DM who developed acute ischemic intestinal necrosis with severe DKA combined with hypernatremic hyperosmolarity.Case re...

hrp0086p2-p323 | Diabetes P2 | ESPE2016

Prevalence of Acute Metabolic Complications in Children with Type I Diabetes Admitted to the Children Hospital in Qazvin, Iran (2005–2014)

Saffari Fateme , Dargahi Maryam , Esmailzadehha Neda , Yazdi Zohre , Homaei Ali

Background: Type 1 diabetes (T1D) is one of the most common chronic diseases in childhood and adolescence. Diabetic ketoacidosis (DKA) and severe hypoglycemia are complications of T1D and are associated with significant morbidity and mortality.Objective and hypotheses: The aim of this study was to determine the prevalence of acute metabolic complications in children with T1D admitted to the children hospital in Qazvin during 2005–2014.<p class="...

hrp0086p2-p945 | Thyroid P2 | ESPE2016

Vitamin D Levels in Children with Hashimoto’s Thyroiditis: Before and after I-Thyroxine Therapy

Chaudhary Navendu , Kumar Rakesh , Sachdeva Naresh , Dayal Devi

Background: There is high prevalence of Vitamin D deficiency (VDD) in Hashimoto’s thyroiditis (HT) as reported in literature. However, it is uncertain whether VDD is a cause or effect of HT. The effect L-thyroxine replacement on vitamin D levels in children with HT has not been studied.Objective and hypotheses: To study vitamin D level of newly diagnosed children with HT and to observe the change in vitamin D level after L-thyroxine therapy.<p c...

hrp0084p1-151 | Miscelleaneous | ESPE2015

A Case of Autoimmune Polyglandular Syndrome Type I Presenting as Progressive Generalised Lipodystrophy in a 15-month-old Child

Sorkina Ekaterina , Frolova Elena , Rusinova Dina , Polyakova Svetlana , Vasilyev Evgeny , Petrov Vasily , Tiulpakov Anatoly

Background: Autoimmune polyglandular syndrome type 1 (APS1) is a monogenic autoimmune disease caused by defects in autoimmune regulator gene (AIRE). The classic clinical triad is composed of Addison disease, hypoparathyroidism, and chronic mucocutaneous candidiasis, however other endocrine and non-endocrine features of APS1 may occur.Objective: To describe an unusual clinical manifestation of APS1.Methods: Congenital lipodystrophy ...

hrp0084p3-798 | DSD | ESPE2015

‘I am a Boy Since 8-Years-Old’: Female During Childhood, Virilization at Puberty

Kilinc Suna , Guven Ayla , Helvacioglu Didem

Background: 5α-reductase-deficiency is an autosomal recessive disorder with clinical spectrum ranges from a male phenotype with hypospadias to a female phenotype. Many different mutations of SRD5A2 gene has been described in affected patients and clinical signs can vary depending on the degree of enzyme deficiency.Case presentation: 14-years-old girl admitted to our clinic because of feeling as a boy since 8-years-old. Parents were first degree cous...

hrp0097p2-246 | Late Breaking | ESPE2023

Results from a Multi-Stakeholder Meeting on Medical Devices in Paediatric Type I Diabetes

Biester Torben , Reschke Felix , Danne Thomas , Julien Marc , Lusar Irja , Cheng Katharine , Cavaller-Bellaubi Maria , Katz Michelle , Niemoeller Elisabeth , Renard Eric , Sturny Maren , Geertsma Robert , Vassal Gilles

Objectives: To discuss all challenges involved with providing children (including the very young) and adolescents with diabetes (CwD) with the latest appropriate technology, such as automated insulin delivery systems (AIDs), to manage their blood glucose and help improve their quality of life and suggest ways in which access to new types of devices available to adults can be improved for children with T1D.Methods: In con...

hrp0098p1-6 | Adrenals and HPA Axis 1 | ESPE2024

Impact of Fludrocortisone on Blood Pressure in Young Children Under 5 with CAH in the I-CAH Registry: Autoregressive Causal Inference Analysis

R. Lawrence Neil , Bacila Irina , Tonge Joseph , Dawson Jeremy , S. Collins Gary , Lang Zi-Qiang , Bryce Jillian , Alimussina Malika , Chen Minglu , R. Ali Salma , Adam Safwaan , L.T. van den Akker Erica , A.S.S. Bachega Tânia , Baronio Federico , H. Birkebæk Niels , Bonfig Walter , Claahsen–van der Grinten Hedi , Cools Martine , C. Costa Eduardo , Debono Miguel , de Vries Liat , Flück Christa , Gazdagh Gabriella , Güven Ayla , Hannema Sabine , Iotova Violeta , J. van der Kamp Hetty , Krone Ruth , Leka-Emiri Sofia , Clemente-León María , R. Lichiardopol Corina , L. Markosyan Renata , Milenkovic Tatjana , C. Miranda Mirela , Neumann Uta , Newell-Price John , Poyrazoğlu Şükran , Probst-Scheidegger Ursina , Rey Rodolfo , Russo Gianni , De Sanctis Luisa , N. Seneviratne Sumudu , R. Stancampiano Marianna , Tadokoro-Cuccaro Rieko , Thankamony Ajay , Vieites Ana , Wasniewska Malgorzata , Yeste Diego , Tomlinson Jeremy , Faisal Ahmed S , Krone Nils

Background: The International Congenital Adrenal Hyperplasia (CAH) Registry provides rich longitudinal data from CAH patients with 21 Hydroxylase deficiency. We estimated the average total causal effect of fludrocortisone on blood pressure in patients with CAH by modelling within a causal inference framework.Methods: We constructed a directed acyclic graph (DAG) with domain experts (using Dagitty.net) to establi...

hrp0082p1-d3-47 | Bone (1) | ESPE2014

Relation Between CNP Signaling Pathway and the Effect of Combined Treatment with GnRHa and rhGH on the Linear Growth in Mid/Late Pubertal Girls at Great Bone Ages with CPP or EFP

M A Hua-mei , S U Zhe , L I Yin-ya

Objectives: To evaluate the effect of combined treatment with GnRH analogue (GnRHa) and recombinant human GH (rhGH) on the linear growth in mid/late pubertal girls at great bone ages with central precocious puberty (CPP) or early and fast puberty (EFP). To investigate the relation between C-type natriuretic peptide (CNP) signaling pathway and GH’s effect on linear growth in these girls. Methods 22 girls were diagnosed as CPP or EFP, whose bone ages were older than 11.5 ye...