hrp0094p1-103 | Adrenal B | ESPE2021

Leukocyte telomere length in children with Congenital Adrenal Hyperplasia

Raftopoulou Christina , Abawi Ozair , Sommer Grit , Binou Maria , Paltoglou George , Fluck Christa , Akker Erica van den , Charmandari Evangelia ,

Introduction: Exposure to chronic stress and hypercortisolism is associated with decreased leukocyte telomere length (LTL), a marker for accelerated biological aging and cardiovascular disease. Children with congenital adrenal hyperplasia (CAH) are treated with glucocorticoids. The aim of our study was to investigate LTL in children with CAH and its relation with CAH subtype, daily glucocorticoid dose and treatment quality.Method...

hrp0094p2-451 | Thyroid | ESPE2021

A girl with Trisomy 21 presents with Van Wyk-Grumbach syndrome. A rare diagnosis

Dikaiakou Eirini , Vlachopapadopoulou Elpis Athina , Kosteria Ioanna , Panos Alexandros , Dede Eirini , Koutrouveli Eleni , Zouridaki Christina , Michalacos Stefanos

Background: Van Wyk-Grumbach syndrome (VWGS) is a rare diagnosis that should be suspected in children with signs of peripheral precocious puberty and hypothyroidism. It is characterized by multicystic enlarged ovaries, in the presence of long-term severe hypothyroidism. Treatment of VWGS consists of hormonal replacement with levothyroxine. Usually, ovarian cysts and increased ovarian volume subside within an average of 2 months but can persist up to 12 months after treatment.<...

hrp0097p1-434 | Diabetes and Insulin | ESPE2023

Monogenic Diabetes gene variants in 323 Greek MODY patients: Targeted NGS increases diagnostic accuracy and allows identification of rare MODY subtypes.

Mertzanian Anny , Sertedaki Amalia , Fylaktou Irene , Binou Maria , Dolianiti Maria , Nikolaides Nikolas , Anargyros Vasilakis Ioannis , Kanana-Gantenbein Christina

Introduction: Maturity Onset Diabetes of the Young (MODY) is clinically and genetically heterogeneous type of Monogenic Diabetes (MD) and to date 14 genes have been associated with different MODY subtypes. It is a rare disease characterized by early onset hyperglycemia, autosomal dominant inheritance, and defect in β cell insulin secretion, often misclassified as T1DM or T2DM.Materials and Methods: Genetic analysis ...

hrp0097p1-198 | Thyroid | ESPE2023

Graves’ disease in children with Down syndrome

Nurcan Cebeci Ayse , Schempp Vera , Reinauer Christina , Gohlke Bettina , Marx Michaela , Dörr Helmuth-Günther , Woelfle Joachim

Introduction: Thyroid abnormalities such as subclinical or overt hypothyroidism are common in children with Down syndrome (DS) with ranges from 4% to 19.5%, whereas Graves´ disease (GD) is extremely rare (ranges 0.6%-0.9 %).Aims: To evaluate clinical features, course, and treatment of GD in children with DS.Patients and Methods: Among 161 children with GD, diagnosed between 1...

hrp0098rfc15.5 | Late Breaking | ESPE2024

Prevalence and management of modifiable cardiovascular risk factors among adolescents and young adults with type 1 diabetes – a cross-sectional analysis from the Diabetes Prospective Follow-Up Registry DPV

Welters Alena , Otfried Schwab Karl , Reinauer Christina , Boettcher Claudia , Hess Melanie , Bartelt Heike , Dost Axel , Galler Angela , W Holl Reinhard

Background: Cardiovascular disease (CVD) and premature death are major consequences for individuals with type 1 diabetes (T1DM). While diabetes mellitus is an independent risk factor for the development of CVD, excess risk is highly dependent on the presence or absence of additional CV risk factors such as obesity, dyslipidemia, arterial hypertension and smoking. The combination, or clustering of several risk factors exponentially increases CVD risk. Targeting...

hrp0098p1-36 | Diabetes and Insulin 2 | ESPE2024

HAIR PROTEOMICS PROFILE IN GIRLS WITH NEWLY-DIAGNOSED TYPE 1 DIABETES MELLITUS

C. Nicolaides Nicolas , Kitani Rosa-Anna , Vasilakis Ioannis-Anargyros , Angelopoulou Eleni , Michalopoulos Ioannis , Zoidakis Jerome , Samiotaki Martina , Kanaka-Gantenbein Christina

Background and Purpose: Previous studies have shown that autoimmunity in patients with type 1 diabetes mellitus (T1DM) begins long before the onset of clinical manifestations. Viruses, such as Coxsackie virus, play an important role in the complex and multifactorial etiology of T1DM. Human hair grows by 1 cm per month. A variety of endogenous molecules such as proteins, metabolites and hormones are incorporated during hair growth, so that a hair sample can pro...

hrp0098p2-134 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2024

Long-term follow-up of children and adolescents with congenital hyperinsulinism: a 16 years’ single center experience

Nikolaou Michaela , Georgakopoulou Danai , Anargyros Vasilakis Ioannis , Nicolaides Nicolas C , Binou Maria , Mertzanian Anny , Sertedaki Amalia , Kanaka Gantenbein Christina

Background/aim: Congenital hyperinsulinism (CHI) is a group of genetic disorders characterized by impaired insulin secretion, resulting in recurrent hypoglycemia. CHI is the most common cause of severe and persistent hypoglycemia in infancy and childhood that is associated with an increased risk of seizures, developmental delay and permanent brain damage, with lifelong neurodisability if treatment is delayed. The incidence of CHI is estimated to be approximate...

hrp0095p1-102 | GH and IGFs | ESPE2022

Growth and Growth Delay in Children with Systemic Juvenile Idiopathic Arthritis: A Single Center Study

Cristina Maggio Maria , Genesia Alizzi Clotilde , Corsello Giovanni

Systemic Juvenile Idiopathic Arthritis (sJIA) is a chronic autoinflammatory disease, with significant complications that can give short-term and long-term disability with reduced quality of life. Growth delay and short stature are described in >40% of cases, with a complex pathogenesis. Chronic inflammation, long-term corticosteroids treatment, hepatic involvement, malnutrition decrease IGF-1 and GH biological effects. Corticosteroids inhibit growth velocity, bone maturatio...

hrp0095p1-142 | Multisystem Endocrine Disorders | ESPE2022

Two causes of short stature and delayed puberty in one patient: craniopharyngioma and celiac disease. A case report.

Simina MihutaMonica , Stoian Dana , Cepeha Cristina , Paul Corina

Introduction: Craniopharyngioma, a benign tumor, develops in the sellar/parasellar region. Diagnosis is usually late. Symptoms include severe headaches and vomiting, visual impairment, visual and olfactory hallucinations and at least one hormonal deficiency. Celiac disease is caused by an immune reaction triggered by gluten in the small intestine. Over time, due to inflammation, it causes malabsorbtion which can affect growth in children.<p class="abstext"...

hrp0092p2-192 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Shox-Haploinsufficiency Intra-Familial Phenotipic Variability and the Impact on Final Height: Report of a Pedigree

Maggio Maria Cristina , Mulè Flavia , Cardella Francesca , Corsello Giovanni

SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype.GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.We describe the case of two sisters with SHOX-D (target height: 146.8 cm (-2.6SDS); mother: 146.5 cm; ...