ESPE Abstracts

Background: Primary ovarian failure is (POF) characterised by primary amenorrhoea or early menopause in females. Minichromosome maintenance 10 (MCM10) is a gene involved in DNA damage repair, DNA replication and chromatin formation has received attention as a potential genetic etiology for neoplastic disease. Drosophila with mutated MCM10 have subfertility and dysfunction in female germline development. In humans, biallelic mutations of the MCM10 causes NK cel...

Objectives: To assess the prevalence and risk factors of Adrenal crisis (AC) events in children with Adrenal insufficiency (AI) and to evaluate the effectiveness of the treatment for preventing AC.Methods: Children diagnosed with AI between 1990 and 2017 and treated with glucocorticoids at four pediatric endocrinology units in Israel were studied. Data were retrieved retrospectively from the patients’ files and they included demographic factors (age...

Background: Ovarian Dysgenesis (OD) is a rare genetically heterogeneous XX Disorder of Sex Development. It presents clinically with primary amenorrhea, hypergonadotrophic hypogonadism and infertility. The genetic basis of OD remains unknown in 70% of cases. To identify novel genetic causes of OD, we are investigating families with one or more patients diagnosed with OD.Methods: Using a patient-based approach, WES was per...

Aims: Do-It-Yourself Artificial Pancreas Systems (DIYAPS) represent a unique patient-initiated treatment in which commercially available and approved medical devices such as continuous glucose monitoring systems (CGMs) and insulin pumps are connected by an off-label algorithm, and are remotely controlled by open-source algorithms to automate insulin delivery. While these systems are co-created by the DIYAPS community, and access is open to everyone, users have...

Background and aims: Achieving good glycemic control is a major challenge for adolescents with type 1 diabetes (TID). The introduction of the MiniMed 780G system, an advanced hybrid closed-loop (AHCL), that enables an automatic correction of insulin, gave hope for improved glycemic outcomes in adolescents. We assessed specific characteristics associated with glycemic measures in youth with T1D switching to Minimed 780G.Methods:</...

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most common neurobehavioral disorder of childhood. Type 1 diabetes (T1DM) is the most common metabolic disease in children. The treatment of T1DM requires high executive functions and requires very intensive treatment that could be an obstacle for patients with ADHD. Dual diagnosis of T1DM and ADHD might affect treatment, control and complications of T1DM. In order to prevent long-term complica...

Background: Attention-deficit/hyperactivity disorder (ADHD) is the most common neurobehavioral disorder of childhood. Type 1 diabetes (T1DM) is the most common metabolic disease in children. The treatment of T1DM requires high executive functions and requires very intensive treatment that could be an obstacle for patients with ADHD. Dual diagnosis of T1DM and ADHD might affect treatment, control and complications of T1DM. In order to prevent long-term complica...

Background: Monogenic obesity is a rare form of obesity caused by pathogenic variants in genes implicated in the leptin–melanocortin receptor (MC4R) signaling pathway. The MC4R pathway plays a crucial role in the regulation of satiety, energy balance, and body weight. Abnormalities in the leptin–melanocortin pathway are characterized by early weight gain, hyperphagia, and severe obesity.Objective: To investig...

Introduction: Primary ovarian Insufficiency (POI) occurring in youth is a devastating condition. POI is characterized by at least 4 months of disordered menses in association with menopausal follicle stimulating hormone (FSH) levels. The most common causes of POI in adolescence are iatrogenic and chromosomal abnormalities. Data are scarce regarding the incidence of POI in adolescents.Objectives: We aimed to estimate the incidence and the distribution of ...