hrp0095p1-437 | Diabetes and Insulin | ESPE2022

The Relationship between Visceral Adipose Index and Metabolic Syndrome in Children with Type 1 Diabetes Mellitus

Albayrak Serpil , Karaoglan Murat , Keskin Mehmet , Yıldırım Ahmet

Background/Aim: Prediction of metabolic syndrome (Mets) plays important role in cardiovascular disease risk prevention. Although Mets is relatively common in children with T1DM, diagnosis and prediction are ignored. Visceral Adiposity Index VAI) has been defined as a new cardiometabolic risk marker reflecting abdominal fat distribution and dyslipidemia. The aim of the study is to reveal the relationship between Mets and components of VAI in patients with T1DM....

hrp0095p1-443 | Diabetes and Insulin | ESPE2022

Co-segregation analysis and functional trial in vivo of candidate genes for monogenic diabetes

Ingrida Stankute , Kazokaite Mintaute , Blouin Jean-Louis , M. Schwitzgebel Valerie , Verkauskiene Rasa

The aim of this study was to perform familial co-segregation analysis and functional trial in vivo during mixed meal tolerance test (MMTT) of novel variants in diabetes candidate genes.Methods: This study is a continuation of collaborative research project “Genetic diabetes in Lithuania” with the cohort of 1209 young diabetes patients. Prior screening for GADA, IA-2, IAA, ZnT8A confirmed type 1 diabetes (T1D) diagnos...

hrp0095p1-339 | Multisystem Endocrine Disorders | ESPE2022

Treatment-resistant hypokalemia and arterial hypertension: a prismatic case of low renin childhood hypertension

Rakicioglu H. , Kamrath C. , Genthner N. , Karatsiolis P. , Reincke M. , A. wudy S.

We report on a 17-year-old female patient with cramps in hands and legs since 6 months. She showed hypokalemia with high need of potassium substitution (128mmol K= 1.3 mmol/kg/d), arterial hypertension (mean 154.5/92 mmHg), polydipsia and polyuria without nocturia or salt craving. Her PMH revealed neuroblastoma stage III with high-dose chemotherapy, stem cell transplantation and obesity (36.8 kg/m2). Further investigation showed aldosterone 77.5 ng/dl (norm values: 2-10ng/dl),...

hrp0095p1-143 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Use of the 100,000 Genomes Project to identify the molecular basis of rare endocrine disorders within a tertiary paediatric endocrinology centre

M McGlacken-Byrne Sinead , Gregory Louise , Roberts Rowenna , Wakeling Emma , Katugampola Harshini , T Dattani Mehul

Introduction: The UK 100,000 Genomes Project (100KGP) recently investigated the genetic basis of rare disease using whole genome sequencing. The genetic aetiology of most rare paediatric endocrine disease remains unexplained.Methods: Children with genetically unexplained rare endocrine disease attending a subspecialist paediatric endocrinology clinic underwent whole genome sequencing as part of the 100KGP. Parental DNA w...

hrp0095p2-57 | Diabetes and Insulin | ESPE2022

Outcome of positive adrenal antibodies identified on screening in children with T1DM

Pinsker Jonathan , McNeilly Jane , Whyte Karen , Kuehne Vaiva , Faisal Ahmed S , Guftar Shaikh M

Background: Primary adrenal insufficiency (PAI) is characterised by the immune destruction of the adrenal cortex and leads to impaired production of the adrenal hormones. It is a potentially life-threatening condition that can be managed if identified early. The onset is insidious and often difficult to diagnose. Screening for adrenal autoantibodies is routinely performed in autoimmune conditions such as type 1 diabetes mellitus (T1DM). The guidance around the...

hrp0095p1-309 | Growth and Syndromes | ESPE2022

International Standard Growth Charts Overestimates Stunting Prevalence in Indonesia Compared to the Indonesian National Growth Chart

Natalia Hasibuan Susi , M Djer Mulyadi , A Andarie Attika , B Pulungan Aman

Background: Growth problems, such as stunting, are commonly found in daily pediatric practice. Stunting is a significant problem in developing countries, and is part of the Sustainable Development Goals (SDG) Goal 2 of ending hunger. In Indonesia, the rate of stunting in children under 5 years old is still considered high, despite improvement in quality of life due to rapid economic development. The rate of this improvement is unequal throughout the nation, wh...

hrp0092p2-239 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Radiation Therapy for Children with Medulloblastoma: Growth and Thyroid Sequalae

Corredor-Andres Beatriz , Jerónimo Dos Santos Tiago , Alonso José Antonio , Cañas Mª Teresa , Muñoz-Calvo Mª Teresa , Argente Jesús

Background: Medulloblastoma is the most common malignant pediatric brain tumor. Although survival has improved with oncological therapy, late effects such as endocrine consequences are common, especially growth failure and thyroid dysfunction.Methods: Children diagnosed with medulloblastoma in a pediatric hospital between 2004 and 2014 were studied and followed until 2019. Statistical analysis was performed to estimate t...

hrp0089p1-p181 | Growth & Syndromes P1 | ESPE2018

Long Term Effects of Childhood Growth Hormone Treatment on Height and Body Mass Index in Adolescents and Adults with Silver-Russell Syndrome

Lokulo-Sodipe Oluwakemi , Canton Ana P. M. , Giabicani Eloise , Ferrand Nawfel , Child Jenny , Wakeling Emma L. , Binder Gerhard , Netchine Irene , Mackay Deborah J.G. , Inskip Hazel M. , Byrne Christopher D. , Davies Justin H. , Temple I. Karen

Growth hormone (GH) is commonly used during childhood to treat short stature in Silver-Russell syndrome (SRS), but final height and long-term body mass index (BMI) data are limited.Objective: To evaluate height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and...

hrp0084p2-523 | Puberty | ESPE2015

Copy Number Variants in Patients with Congenital Hypopituitarism Associated with Complex Phenotypes

Correa Fernanda A , Franca Marcela M , Canton Ana P M , Otto Aline P , Costalonga Everlayny F , Brito Vinicius N , Carvalho Luciani R , Costa Silvia , Arnhold Ivo J P , Jorge Alexander A L , Rosenberg Carla , Mendonca Berenice B

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

hrp0094p1-144 | Sex Endocrinology and Gonads B | ESPE2021

Ovarian AMH production is transiently affected in pubertal and prepubertal girls with acute lymphoblastic leukaemia and non-Hodgkin lymphoma receiving chemotherapy: a prospective, longitudinal study.

Lopez Dacal Jimena C. , Prada Silvina , Gutierrez Marcela E. , Bedecarras Patricia , Ropelato M. Gabriela , Arcari Andrea , Ballerini M. Gabriela , Gryngarten Mirta , Soria Marcela , Moran Lorena , Ferraro Cristina , Freire Analia , Bergada Ignacio , Drelichman Guillermo , Aversa Luis , Rey Rodolfo A. , Grinspon Romina P. ,

Introduction: Improvements in the treatment of acute lymphoblastic leukaemia (ALL) and non-Hodgkin lymphoma (NHL) have increased survival, with the consequent concern about the long-term effects that childhood chemotherapy may have on ovarian function. AMH constitutes an indirect, reliable biomarker of the ovarian reserve, useful for the assessment of cancer therapy-related ovarian damage.Aim: To evaluate small ovarian f...