hrp0094p2-155 | Diabetes and insulin | ESPE2021

Dyslipidaemia in children with type 1 diabetes mellitus

Nikolaeva Nadezhda , Gumeniuk Olga , Bolotova Nina ,

Dyslipidemia is one of the major risk factors for cardiovascular disease in diabetes mellitus. The characteristic features of diabetic dyslipidemia in adults are a high plasma triglyceride concentration, low HDL cholesterol concentration and increased LDL cholesterol. Dyslipidaemia in children with type 1 diabetes mellitus (T1D) have been little studied (P. Lozano et al., 2016; J. D. Schofield et al.,2016; M. Kinoshita et al., 2018; C.Elkins et al., 2019). DECODE studies (Diab...

hrp0097rfc3.3 | Fat, metabolism and obesity 1 | ESPE2023

Early Corneal Nerve Loss in Children with Melanocortin 4 Receptor (MC4R) Gene Mutation Related Obesity

Gad Hoda , Dauleh Hajar , Pasha Maheen , Omer Idris , Al-Barazenji Tara , Alshafai Mashael , A. Hendaus Mohamed , A. Malik Rayaz , Hussain Khalid

Background: Obesity is highly prevalent worldwide, particularly in the MENA region. Whilst simple obesity has a variable genetic and environmental basis, syndromic and non-syndromic monogenic obesity has a strong genetic component. Melanocortin 4 receptor (MC4R) mutations are the commonest cause of monogenic obesity. MC4R also regulates neuropathic pain pathways via JNK signaling after nerve injury.Methods: Five children...

hrp0097p2-238 | Diabetes and Insulin | ESPE2023

CGK Gene nucleotide variant of uncertain clinical significance (Exon 4/10. c397G>A. p.Asp133Asn) in a pediatric patient with hyperglycemia, elevated HgA1c and negative anti-islet cell antibodies

Minutti Carla , Mora Guido

Maturity onset diabetes of the young (MODY) is a group of inherited disorders with a varying degree of severity, caused by variants in one of several genes (most common genes are: HNF1A, CGK, HNF4A, HNF1B), The majority of cases have impaired insulin secretion. Patients tend to present with hyperglycemia prior to age 25 years, but can present later in life. There is usually family history of diabetes. MODY accounts for 1-3% of all cases of diabetes. The GCK gene has been assoc...

hrp0095hdi1.2 | How Do I… Session 1 | ESPE2022

How do I manage severe obesity

van den Akker Erica

Pediatric severe obesity is a major threat to health and longevity. Around 7% of children worldwide have early onset severe obesity before the age of 7. Pediatric obesity is caused by an interplay of multiple factors: lifestyle, environmental, sociocultural, psychological, biological and genetic factors. Endocrine, monogenetic or syndromal causes are rare, but currently underdiagnosed and important to identify for the need of specific treatment. Cardiovascular risk factors and...

hrp0095p1-25 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Efficacy and safety of bisphosphonate treatment in pediatric patients with osteoporosis caused by immobilization

Lee Myeongseob , In Lee Hae , Seo Junghwan , Kim Ho-Seong

Introduction: Osteoporosis is medical condition commonly associated with immobilization in children, which can lead to a vicious cycle of disability, worsening osteoporosis, and recurrent fractures. Currently, bisphosphonates are widely used as a standard therapy in children with osteoporosis, but there are limited data on efficacy according to its dosage and duration. We aimed to evaluate efficacy of bisphosphonate treatment according to the dosage and durati...

hrp0095p1-130 | Growth and Syndromes | ESPE2022

Osteogenesis imperfecta / Ehlers–Danlos (OI/EDS) overlap syndrome associated with a new COL1A1 variant (c.3235G>A, p.Gly1079Ser) in a girl with severe short stature and neuroblastoma

Letteria Anna Morabito , Elsa Maria Allegri Anna , Paola Capra Anna , Corica Domenico , Capasso Mario , Capra Valeria , Garaventa Alberto , Maghnie Mohamad , Briuglia Silvana , Gabriela Wasniewska Malgorzata

Background: Osteogenesis imperfecta / Ehlers–Danlos (OI/EDS) overlap syndrome is a rare and recently described disorder of connective tissue, characterized by mutation of COL1A1 (17q21.33) or COL1A2 (7q21.3) genes, involved in alpha-1 and alpha-2 chains of type 1 collagen synthesis. Patients with OI/EDS overlap syndrome could show a phenotype characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae, sho...

hrp0095p1-557 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pituitary tuberculosis and hypothalamic obesity can be reversed by prolonged anti-tuberculosis treatment

Rochtus Anne , Lagae Lieven , Vermeulen Francois , de Zegher Francis

Background and methods: Sellar and suprasellar tuberculomas are extremely rare in children and most often patients present with headache, vomiting, visual disturbances, and hypofunction of the pituitary gland. Here, we report a girl with hypothalamic obesity, that recovers after antituberculosis treatment.Findings: An 11-year old girl presented with headache, fever and anorexia that progressively evolved into an encephal...

hrp0095p1-193 | Thyroid | ESPE2022

Diagnostic Features and Risk Factors for Childhood Thyroid Cancers

Sahin Pinar , Gurpinar Tosun Busra , Cemal Yumuşakhuylu Ali , Guran Tulay , Helvacioglu Didem , Yavas Abali Zehra , Haliloglu Belma , Oysu Cagatay , Bereket Abdullah , Turan Serap

A worldwide increase in pediatric thyroid cancers incidence over the years has been observed. Although pediatric thyroid cancers tend to have a more aggressive course compared to adults, the survival rate is better. In this study, we aimed to examine the demographic, clinical, pathological, and laboratory characteristics, prognostic and risk factors of children with thyroid cancer.Methods: We retrospectively analyzed 39 children with thy...

hrp0095p2-273 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Isodicentric Y Chromosomes in Patients with Disorders of Sex Development

M Selveindran Nalini , SL Wong Jeanne , Hong YH Janet

Introduction: Isodicentric Y chromosome[idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45, X cell line.Methods: The aim of this study was to investigate the genotype and phenotype variability of patients with idic(Y). The clinical data from five patients was ext...

hrp0092rfc4.4 | Fat Metabolism and Obesity Session | ESPE2019

The Novel Phosphatidylinositol-3-Kinase (PI3K) Inhibitor Alpelisib Effectively Inhibits Growth of PTEN Haploinsufficient Lipoma Cells

Kirstein Anna , Augustin Adrien , Kiess Wieland , Garten Antje

Background and Aim: Germline mutations in the tumor suppressor gene PTEN cause PTEN Hamartoma Tumor Syndrome (PHTS). Pediatric patients frequently develop lipomas. PTEN antagonizes the growth promoting PI3K/AKT/mTOR pathway. There is no current treatment option except surgery. Treatment attempts with the mTORC1 inhibitor Rapamycin could not reverse lipoma growth. Recently, lipomas associated with a related syndrome caused by mosaic activating PI3K mutations (P...