ESPE Abstracts

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 ...

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. ...

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...

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...

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...

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.</...

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,...

Introduction: Thyroid carcinoma in pediatric and young adult population presents contradictory features: it has higher rates of multifocal disease, local and distant metastasis and reccurence compared to the adult population, yet the 5-year survival rate is 98%. The rising incidence seen recently cannot be entirely explained by overdiagnosis, as increasing rates of advanced-stage disease are also observed. The rise consists primarily of papillary thyroid carci...

Introduction: Precocious pubarche (PP) is characterized by the early development of pubic hair and clitoral enlargement in girls. While commonly attributed to adrenal-related causes, such as congenital adrenal hyperplasia or adrenal tumors, ovarian sources are infrequent etiologies. In this report, we present a clinical case of a young girl with PP due to a rare source.Case Report: A 1.7-year-old girl presented with the ...

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with an autosomal dominant mode of inheritance and high penetrance. To this date, it is known 13 subtypes of MODY with different genetic etiologies. It is characterized by high incidence in the family, an early onset and primary defect in pancreatic β-cell function.Objective and hypotheses: The primary objective of this study is to identify patients with MODY an...