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60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

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The 60th ESPE Annual Meeting will now be taking place in Rome, Italy.

Poster Category 2

Late Breaking

hrp0095p2-301 | Late Breaking | ESPE2022

Analysis of Factors Affecting Bone Mineral Density in Children and Adolescents with systemic lupus erythematosus

Jin Park Su , Bae Ahn Moon , Suh Byung-Kyu

Background: Children and adolescents with chronic disease are at risk of developing bone fragility. In particular, low bone mineral density (BMD) is increasingly recognized in pediatric patients with glucocorticoid treated rheumatic disease. The purpose of this study was to evaluate the clinical characteristics of children and adolescents with systemic lupus erythematosus (SLE), and to analyze the factors associated with a lower BMD in these patients.<p cl...

hrp0095p2-302 | Late Breaking | ESPE2022

Pseudohypoparathyroidism- Presented with a convulsion

Withana Anuruddhika , Wickramasinghe Rohan , Kumara Milinda , De Silva Dimarsha , Liyanage Upeksha , Palliyaguruge Jagath

Introduction: In Pseudohypoparathyroidism (PHP), parathyroid glands are normal or hyperplastic and they can synthesize and secrete parathyroid (PTH) hormone. Serum immunoreactive PTH are elevated even when the patient is normocalcemic. Neither endogenous nor administered PTH raises the serum Ca or lowers the levels of P. Depending on the phenotypic and biological findings, PHP is classified into various types.Case Report:</strong...

hrp0095p2-303 | Late Breaking | ESPE2022

Donohue syndrome in a Turkish infant: Mild clinical course despite severe genetic mutation

Tepe Derya , Kocaay Pinar , Cakir Gundogan Secil , Sirma Dokuzboy Refika , Boyraz Mehmet

Donohue syndrome(DS) is a rare and often lethal autosomal recessive disease. Its prevalence is estimated less than one in a million live births. Mutations in the insulin reseptor (INSR) gene cause rare severe INSR-related insulin resistance syndromes such as DS. It is characterized by severe insulin resistance (hyperinsulinemia, fasting hypoglycemia and postprandial hyperglycemia), intrauterine and postnatal growth retardation, hypotonia, organomegaly including heart, liver, k...

hrp0095p2-304 | Late Breaking | ESPE2022

Diabetic ketoacidosis associated with hypertriglyceridemia in the pediatric age group – A case report

Zorron Mariana , Duarte Gomes Machado Raquel , Albiero Camargo Daniela , Seben Julia , Fernanda Vanti Macedo Paulino Maria , Mendonça Erika , Fanger Vanessa

Introduction: Diabetic ketoacidosis (DKA) is a potentially fatal hyperglycemic emergency primarily associated with type 1 diabetes mellitus (T1D). The association between DKA and severe hypertriglyceridemia has already been previously discussed with a prevalence ranging between 7.1%-25%, with pancreatitis present in the majority of cases. Epidemiological data in the pediatric age are scarce and not well established. Its etiology is not yet fully known. The &qu...

hrp0095p2-305 | Late Breaking | ESPE2022

Poor Infant Feeding Practices and Type 1 Diabetes Mellitus: Any Correlation?

Aftab Sommayya , Asif Rameen , Afzal Javeriya

Background: Type 1 diabetes mellitus (T1DM) is a chronic immune mediated condition where autoimmunity against pancreatic beta cell is triggered by many environmental factors in genetically susceptible person. Association of poor infant feeding practices as potential risk factor for developing T1DM is still debatable.Objective: The aim of this study is to look for association of infant feeding malpractices with type 1 dia...

hrp0095p2-306 | Late Breaking | ESPE2022

Clinical Spectrum of Associated Autoimmune Conditions in Children with Type 1 Diabetes Mellitus (TIDM) in Developing Countries

Aftab Sommayya , Asif Rameen

Background and Aim: Type 1 diabetes mellitus (TIDM) is not an inherited condition and 80% of children with T1DM have no family history of diabetes. It is associated with other autoimmune conditions with hypothyroid being the most common followed by celiac disease. However, most of this data is from developed countries. The aim of this study is to determine the incidence of different autoimmune conditions in T1DM and to look for the clinical pattern of autoimmu...

hrp0095p2-307 | Late Breaking | ESPE2022

Hypoglycemia as a result of skewed thiopurine metabolism in two pediatric patients

Seong Clara , Giordano Lisa , Seyboth Brian , Minutti Carla

Introduction: 6 Mercaptopurine (6MP) is a cornerstone of maintenance therapy in pediatric acute lymphoblastic leukemia (ALL). Fasting hypoglycemia is a rare side effect of 6MP therapy that has been observed in children being treated for ALL. We present two pediatric patients who developed symptomatic, fasting hypoglycemia during maintenance therapy.Case Description: A 7-year-old male with standard risk B ALL receiving ma...

hrp0095p2-308 | Late Breaking | ESPE2022

Lal-D: Know it To Recognize it

Paglia Pamela , Valerio Giuliana , Ranucci Giusy , Rosaria Licenziati Maria

Introduction: Lysosomal Acid Lipase Deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesterol esters and triglycerides. Clinical manifestations are heterogeneous in terms of age of onset, severity and biochemical and radiological findings. Dyslipidemia, hepatomegaly and hepatosteatosis with hypertransaminasemia are the most common features. There is significant evidence of incre...

hrp0095p2-309 | Late Breaking | ESPE2022

Three cases of Latent Autoimmune Diabetes in Youth in Korean Obese Adolescents

Park Haesun , Chung Sochung

Introduction: LADY (latent autoimmune diabetes in youth) have been proposed in younger type 2 DM with presence of beta cell autoantibodies like LADA in adult. LADA patients showed greater complication risk in the later course of disease compared with type 2 DM. When we see the LADY and the LADA in an age-related continuous spectrum, LADY will have more adverse results than type 2 DM. And a large number of LADY is expected as diabetes related autoimmunity in yo...

hrp0095p2-310 | Late Breaking | ESPE2022

GH Treatment in A Girl with Acrodysostosis Type 2 Due to Novo Mutation in PDE4D gene

Nikitas Skarakis Spyridon , Karachaliou Fotini-Heleni , Simatou Aristofania , Tsintzou Eleni , Papadopoulou Anna

Acrodysostosis (ACRDYS) (MIM 101800) is a rare autosomal dominant condition affecting skeletal growth and resulting in primary skeletal dysplasia. Two types of ACRDYS have been described and characterized by distinct references on OMIM database. ACRDYS is similar and often confused with PHP1A, but caused by mutations downstream of the genes involved in PHP1A. Most of the patients have de novo variants. Both types of ACRDYS present with similar skeletal abnormalities (dispropor...

hrp0095p2-311 | Late Breaking | ESPE2022

A novel 2q12 duplication causes intellectual disability and short stature in a Turkish family

Kocaay Pınar , Tepe Derya , Cevdet Ceylan Ahmet

Copy-number variation (CNV) is a kind of malfunction of DNA polymerase to produce extra genetic material which leads to more number of repeats in genes. CNVs have been associated with different clinical phenotypes, such as learning disabilities, short stature, and intellectual disability. The chromosomal microarray analysis is an effective diagnostic method for identifying new CNVs and understanding their clinical effects. In this case report, a variation that has not been rep...

hrp0095p2-312 | Late Breaking | ESPE2022

Karyotype-phenotype correlation and associated problems in patients with Turner Syndrome: a single center Turkish experience

Tepe Derya , Kocaay Pinar

Background: Turner syndrome (TS) is a genetic disorder related to complete or partial absense of the second X chromosome. TS is characterized by short stature, multiple skeletal anomalies, gonadal failure, autoimmune diseases and multiple congenital organ anomalies. This study aimed to determine phenotype and karyotype correlation and define the frequency of associated problems in TS patients.Methods: Our retrospective s...

hrp0095p2-313 | Late Breaking | ESPE2022

A rare cause of precocious puberty: Hepatoblastoma

Jacob Anju , Elbejjani Mireille , Qazi Abid , Thalange Nandu

Background: Neoplastic causes of precocious puberty include brain, gonadal, adrenal and germ cell tumors; hepatoblastoma (HB) is only rarely noted [1,2]. HB, is a rare primary hepatic tumor of childhood [3]. It is accompanied by raised levels of alpha-fetoprotein (α-FP). Rarely, beta-human chorionic gonadotropin (β-hCG) levels are elevated, resulting in peripheral precocious puberty (PPP).Clinical Case: We pre...

hrp0095p2-314 | Late Breaking | ESPE2022

A case of permanent congenital hypothyroidism with NKX2-1 mutation and optic nerve thickness

Yang Jaejin , Yeong Chung Woo , Hwan Oh Seung , Hun Seo Go , Rye Kim Jeong , Yu eesuk

Congenital hypothyroidism can be caused by the wrong formation of the thyroid gland or the defect in the synthesis of thyroid hormone. Among the candidate genes, defect in the gene NKX2-1 can be presented as thyroid, lung, or brain dysfunction. An eight-year-old boy was diagnosed as congenital hypothyroidism at the age of 16 days. He was referred to our Pediatric Endocrinology Clinic due to elevated TSH level (36.28uIU/mL). Serum total T3 and free T4 were 125 ng/dL an...