hrp0092p1-339 | Fat, Metabolism and Obesity (2) | ESPE2019

Elevated High-Sensitivity C-Reactive Protein Level is Associated with Prediabetes and Adiposity in Korean Children and Adolescents.

Shin Sohyun , Kim Jaehyun

Objectives: Obesity is a chronic low-grade inflammatory condition that increases the risk of cardiovascular disease. Elevated high-sensitivity C-reactive protein (hs-CRP) has been associated with cardiovascular disease, type 2 diabetes, and metabolic syndrome in adults. We investigated whether hs-CRP represents a risk factor for obesity and cardiometabolic diseases in Korean children and adolescents using nationally representative data.<...

hrp0082p3-d1-703 | Diabetes | ESPE2014

Urinary c-Peptid/Creatinine Ratio in Children and Adolescents Diagnosed with Maturity-Onset Diabetes of the Young

Yilmaz Agladioglu Sebahat , Aycan Zehra

Background and hypotheses: Urinary C-peptide creatinine ratio (UCPCR) is a new, non-invasive, economical test recommended in differential diagnoses of maturity-onset diabetes of the young (MODY). There are a few studies on this topic. UCPCR values were determined as >0.2 and >0.7 nmol/mmol with a high specificity and sensitivity in differential diagnosis in the previous two studies, the values were evaluated in only three MODY types (HNF1A/HNF4A/GCK-MODY). We investiga...

hrp0082p3-d1-624 | Adrenals &amp; HP Axis | ESPE2014

Genotype–Phenotype Correlations in Bulgarian Patients with c.293-13A/C>G Splice Mutation of 21CYPA2 Picked up by Neonatal Screening (NS)

Stoeva Iva , Dineva Ganka , Kirov Andrey , Kostova Antoaneta , Todorov Tihomir , Aroyo Ani , Todorova Albena , Mitev Vanio

Background: Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by defects in one of the several adrenal steroidogenic enzymes. 80–95% of CAH are due to mutations in CYP21A2 gene encoding 21 hydroxylase. Its residual activity defines the clinical form. Except deletions and large gene conversions, nine pseudogene-derived mutations are responsible for 95% of all CAH alleles. The mutational distribution varies between diffe...

hrp0089p1-p034 | Bone, Growth Plate &amp; Mineral Metabolism P1 | ESPE2018

Is Plasma C-Type Natriuretic Peptide Level Available for Typing and Diagnosis of Skeletal Dysplasia Cases?

Kizilcan Cetin Sirmen , Goksen Damla , Ozen Samim , Alper Hudaver , Isık Esra , Onay Huseyin , Darcan Sukran

Introduction: Skeletal dysplasia is a heterogeneous group of disease, leading to abnormal enchondral ossification and typing of the disease is quite complex. C-type natriuretic peptide (CNP), one of the members of the natriuretic peptide family, has been implicated to play a role in bone development. CNP levels were high in some types of the skeletal dysplasia.Objective: The aim of this study is to evaluate the possibility of using CNP, as a marker for s...

hrp0098p2-270 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

A Rare Cause of Primary Ovarian Insufficiency: Novel Homozygous c.2120G>C(p.Arg707Pro) Pathogenic Variant in the MCM8 Gene

Eren Simge , Türkyılmaz Ayberk , Özdemir Mustafa , Uçar Ahmet

Introduction: Primary ovarian insufficiency (POI) is a condition characterized by amenorrhea with elevated FSH and LH levels as a result of ovarian dysfunction. Ovarian failure is a very rare condition in pediatric population. Genetic syndromes (Turner, Fragile X syndrome) or malignancy treatment are the main reasons. The minichromosome maintenance complex component 8 (MCM8) gene is responsible for the repair of DNA double-strand breaks;MCM8 is a rare cause of...

hrp0092p3-125 | Fat, Metabolism and Obesity | ESPE2019

Fasting C-Peptide: A Useful Tool for Diagnosis of Type II Diabetes Mellitus in Overweight / Obese Adolescents Living in a Poor Resources Setting

Bodieu Chetcha Adele , Fomenky Njiandock Cecilia , Dehayem Mesmin , Sobngwi Eugene

Case Report: Two cases of type 2 diabetes mellitus (among which 1 case of metabolic syndrome) previously taken as type 1 diabetes mellitus in adolescents are presented and the evaluation and management are discussed. There was a family history of Diabetes mellitus in one of the adolescent. Both of them had signs of insulin resistance, they were overweight and obese respectively, poorly controlled on premix insulin. The laboratory test revealed a high HbA1C, dy...

hrp0084p3-831 | Fat | ESPE2015

Evaluation of Renal Functions in Obese Children and Adolescents with Cystatin-C and Creatinin Based GFR: is Increasing GFR Reflected Hyperfiltration and Possible Renal Damage in Future?

Salman Dilsah Onerli , Siklar Zeynep , Ilarslan Nisa Eda Cullas , Kocaay Pinar , Ozcakar Birsin , Berberoglu Merih

Introduction: There is a growing interest in the relationship between obesity and renal damage. Chronic kidney disease is accepted as an important complication of obesity in adulthood. However, information on association between childhood obesity and renal functions is limited. In this study, It is aimed to investigate the renal functions in obese children and adolescents.Patients and methods: We enrolled 107 obese children and adolescents as a study gro...

hrp0098p1-227 | Diabetes and Insulin 4 | ESPE2024

Higher levels of c-peptide at the onset of Type 1 Diabetes are correlated with better glycemic control after 2 years from the diagnosis in a cohort of pediatric patients.

Marigliano Marco , Piona Claudia , Mancioppi Valentina , Morotti Elisa , Fornari Elena , Olivieri Francesca , Morandi Anita , Maffeis Claudio

Background and Objective: Diabetic ketoacidosis (DKA) is an acute endocrinological emergency in childhood. It occurs in 20-40% of cases at the onset of Type 1 Diabetes (T1D). DKA is classified as mild, moderate, and severe based on the clinical picture and blood pH levels. This study aims to evaluate the relationship between the characteristics of T1D onset (DKA level, pH, c-peptide) and the glycometabolic control 2, 5, and 10 years after the diagnosis.<p ...

hrp0082p1-d1-136 | Growth | ESPE2014

A Homozygous Point Mutation in the GH1 Promoter (−161T>C) Leads to Reduced GH Expression in Siblings with Isolated GH Deficiency

Madeira Joao , Martin Regina , Montenegro Luciana , Franca Marcela , Costalonga Everlayny , Correa Fernanda , Otto Aline , Arnhold Ivo , Freitas Helayne , Machado Ubiratan , Mendonca Berenice , Jorge Alexander , Carvalho Luciani

Introduction: Mutations in the GH1 promoter are a rare cause of isolated GH deficiency (IGHD). In order to find the molecular cause of short stature due to IGHD, three siblings (2 M) born to consanguineous parents without mutations in the GHRHR and GH1 coding regions were screened for mutations in the GH1 promoter and locus control region. All patients harbored two variants (c.−123T>C and −161C>T) in homozygous state in the GH1 promoter, not found in 100 co...

hrp0089p1-p265 | Thyroid P1 | ESPE2018

HLA Alleles and Amino Acid Variants of HLA-A, -B, -C, -DRB1, -DQB1, -DPB1 Molecules in Early-Onset Autoimmune Thyroid Disease

Cho Won Kyoung , Shin Dong Hwan , Kim Seul Ki , Lee Seonhwa , Choi Yujung , Ahn Moonbae , Baek In Cheol , Jung Min Ho , Kim Tai-Gyu , Suh Byung-Kyu

Objective: We try to investigate the polymorphisms and amino acid variants of HLA-A, -B, -C, -DRB1, -DQB1, -DPB1 molecules in early-onset AITD.Methods: The genotypes of HLA-A, B, C, DRB1, DQB1, and DPB1 on AITD were analyzed in 102 Korean children with AITDs (Graves’ disease (GD)=62, Hashimoto’s disease (HD)=40) and 142 healthy control using sequence-based typing. Analysis of variant amino acids was performed across the genotyping results with ...