hrp0092p2-64 | Diabetes and Insulin | ESPE2019

Autoimmune Thyroid Diseases in Children and Adolescents with Maturity Onset Diabetes of the Young

Calcaterra Valeria , Regalbuto Corrado , Dobbiani Giulia , Vinci Federica , Montalbano Chiara , Larizza Daniela

Background and Aim: The relationship between T1DM and autoimmune thyreopathies is known and described, but the relationship between thyreopathies and other type of diabetes is not sufficiently clarified in pediatric age. The aim of our study was to assess the prevalence of autoimmune thyroid diseases (ATD) in children and adolescents with maturity onset diabetes of the young (MODY) in comparison with patients with T1DM and control group....

hrp0095p1-573 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Long-term follow-up of DHH variant-caused 46, XY disorders of sex development with multiple complications in a Chinese Child

Pan Lili , Li Zuoguang , Su Zhe

Background: The Hedgehog (HH) family plays an important role in the development, proliferation and homeostasis in various tissues and organs. Desert hedgehog(DHH), as a member of this family, is mainly involved in the normal development of testis and the formation of nerve sheath. DHH variation mainly causes 46, XY disorders of sex development (DSD) with or without minifascicular neuropathy(MN). Up to date, only 22 affected patients in detail have bee...

hrp0082p2-d3-476 | Hypoglycaemia | ESPE2014

Glucagon Secretion in Response to Hypoglycemia in Patients with Congenital Hyperinsulinism

Wang Yi , Gong Chunxiu , Su Chang

Background: Hypoglycemia triggers the secretion of counter-regulatory hormones such as cortisol, GH, and glucagon, all of which are protective mechanisms to restore euglycemia. It has been suggested that CHI patients have abnormal glucagon secretion during hypoglycemia, but the data is limited.Objective and hypotheses: To investigate the secretion of counter-regulatory hormones including glucagon during hypoglycemia. ItÂ’s supposed that these hormone...

hrp0089p1-p048 | Diabetes & Insulin P1 | ESPE2018

Menstrual Cycle Disorders in Young Women with Type 1 Diabetes Mellitus

Paschou Stavroula A , Vryonidou Andromachi , Melissourgou Marina , Kosteria Ioanna , Anagnostis Panagiotis , Goulis Dimitrios G , Chrousos George P , Kanaka-Gantenbein Christina

Background and aim: Epidemiologic observations suggest that women with type 1 diabetes mellitus (T1DM) often suffer from menstrual cycle disorders. There may also be a negative association between the age of onset of T1DM and the age of menarche. Delayed menarche, in turn, may be associated with increased risk for diabetic complications. The aim of this study was to prospectively investigate pathologic manifestations of reproductive function in young women with T1DM and their ...

hrp0089p2-p077 | Diabetes & Insulin P2 | ESPE2018

Clinical and Genetic Characterizations of Maturity Onset Diabetes of the Young: Single Center Results

Guven Ayla , Yıldırımoglu Canan

Background: Maturity onset diabetes of the young (MODY) is a group of monogenic disorders classically presenting in adolescence or young adults before the age of 25 years. MODY is a rare cause of diabetes.Methods: In this study, a panel of 23 MODY genes was screened. The Human Gene Mutation Database (HGMD), Clinvar, dbSNP and Exac database used for known or new variants causes MODY. Classification of variants performed according to ACMG 2015 Guidelines. ...

hrp0084p1-44 | Diabetes | ESPE2015

Is Metabolic Control Affected by Military Service in Young Adults with Type 1 Diabetes?

Brener Avivit , Mel Eran , Shalitin Shlomit , Lazar Liora , de Vries Liat , Tenebaum Ariel , Oron Tal , Philip Moshe , Lebenthal Yael

Background: Young adults with type 1 diabetes (T1D) are exempt from conscript military service due to risk of severe hypoglycaemia and metabolic compromise. Nevertheless, there are patients who volunteer to military service.Aims and objectives: To evaluate the effect of military service on metabolic control and incidence of acute diabetes complications.Methods: Study design: retrospective, comparative analysis. Data of 145 T1D pati...

hrp0084p2-449 | Growth | ESPE2015

Risk for Non-Alcoholic Fatty Liver Disease in Young Adults Born Preterm

Breij Laura M , Kerkhof Gerthe F , Hokken-Koelega Anita C S

Background: Non-alcoholic fatty liver disease (NAFLD) is considered the hepatic manifestation of metabolic syndrome. Accelerated catch-up in weight during infancy in subjects born term has been associated with increased risk for NAFLD in adulthood, but this association has not been studied in subjects born preterm.Objective and hypotheses: To investigate the associations of birth weight, gain in weight for length and accelerated catch-up in weight in the...

hrp0094p1-81 | Pituitary A | ESPE2021

Sporadic pituitary adenomas in young patients: clinical and molecular description

de LaPiscina Idoia Martinez , Portillo Nancy , Rica Itxaso , Gaztambide Sonia , Castano Luis ,

Introduction: Pituitary adenomas (PA) in pediatric and young patients comprise a rare pathology of unknown prevalence. The majority are sporadic, but 5% occur in a familial setting, either as isolated (FIPA) or as part of a syndrome. The identification of genetic alterations has broaden the scope of molecular investigations. We describe the clinical characteristics of patients with sporadic PA arising before the age of 35 years and perform thorough genetic scr...

hrp0094p2-112 | Diabetes and insulin | ESPE2021

A single-centre evaluation of remote video consultation for children and young people with diabetes

Andrews Edward , Odeleye Esther , Kumaran Anitha , Trevelyan Nicola ,

Background: Throughout 2020 telemedicine was rapidly deployed across health services and, during the COVID-19 pandemic, replaced many face-to-face (FTF) medical consultations. Children and young people (CYP) with diabetes present a unique opportunity for this type of consultation, due to the ability to interpret and share glucose data via other platforms. This study describes both CYP and parent experience of a new telemedicine service for CYP with diabetes.</...

hrp0097p1-562 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Concurrent premature gonadotrophic activation and gonadal insufficiency in young girls with a brain tumor

Evelein Annemieke , Schouten - Van Meeteren Netteke , Bakker Boudewijn , Gidding Corrie , Van der Wetering Marianne , Van Santen Hanneke

Background: It is well known that endocrine comorbidities occur frequently in children with cancer, especially in those with a brain tumor. In those children, increased intracranial pressure or hydrocephalus may lead to central precocious puberty. Furthermore, chemotherapy, especially alkylating agents, increases the risk for gonadal insufficiency. In this case series we describe 3 young girls with a brain tumor, who develop premature gonadotrophic activation,...