ESPE Abstracts

Introduction: Turner syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of out 1/2500 females live birth. Most important clinical features of TS are short stature and gonadal failure. Approximately one third of girls with TS may undergo spontaneous puberty. Here we report a case of a variant TS with breast development.Case report: A 9-year-old girl was referred to our paediatric endocrinology outpatient...

Introduction: The joint young adult diabetes (YAD) service at a specialist UK centre facilitates transition from paediatric to adult diabetes care for young people (YP) aged 16-25 years. Since 2018, quality improvement interventions have included focus groups with young people, joint paediatric and adult specialist nurse appointments and recruitment of a type 1 diabetes educator. We assess the impact of these interventions and changes imposed by the Covid-19 p...

Introduction: With the increasing prevalence of obesity, prediabetes and type 2 diabetes (T2D) in youth are on the rise. Prevention is paramount for these multifactorial diseases. Dietary interventions targeting a reduction of dietary glycemic index (GI) and glycemic load (GL) are potential strategies for improving insulin resistance. However, the association between GI and GL and T2D risk in children remains uncertain.Objectives...

Introduction: Donohue syndrome (DS) is presenting as the most severe form of insulin resistance. Most of the patients are dying within the first two years of life. As potential treatment has been described the administration of rhIGF1 (Mecasermin) to stimulate the pathway of insulin-like action. An improved metabolic control was reported with continuous subcutaneous administration of rhIGF1 instead of twice daily injections [Plamper 2018].<p class="abstext...

Transient neonatal diabetes mellitus (TNDM) occurs in 50-60% of all cases of neonatal diabetes mellitus (NDM). The most common cause of TNDM (70%) is almost invariably associated with defect in chromosome 6 and mutations in the KCNJ11, ABCC8, INS, NHF1B etc. genes. TNDM is caused by mutations in the GATA6 gene in rare cases. This gene encodes a transcription factor that is important for the development of the hematopoietic, cardiac and gastrointestinal systems.<p class="ab...

Hypophosphatasia (HPP) is a rare, inherited, systemic disease characterized by deficient tissue-nonspecific alkaline phosphatase activity. Common manifestations in children include impaired skeletal mineralization, short stature, and reduced physical function. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients of any age with pediatric-onset HPP. The utility of dual X-ray absorptiometry (DXA) as a diagnostic tool or measure of treatment effective...

Introduction: Well-known long-term complications of alloHSCT in childhood include endocrine system damage and secondary malignancies. In addition, adults surviving childhood alloHSCT are at risk of cardiovascular (CV) and metabolic disturbances. Long-term data of physical fitness in correlation with metabolic status are scarce in this particular group.Objective/Patients and Methods: Cross-sectional investigation of exerc...

Children and adolescents with obesity and clustering of cardiometabolic risk factors, such as hypertension, dyslipidemia, and prediabetes are exposed to endothelial damage, vascular and myocardial remodeling, and atherosclerosis. If not adequately treated, these alterations may contribute to early morbility and mortality for adverse cardiovascular events in adulthood. Physical activity (PA) plays an important role in the treatment of obesity and its cardiometabolic comorbiditi...

Background: This study aims to determine the incidence, clinical course and risk factors of hypothyroidism following cardiac catheter (CC) in infants with congenital heart diseases (CHD).Subjects and Methods: This prospective study included 102 patients with CHD, aged ≤ 3 years who underwent CC. Thyroid function tests were evaluated before CC, one day, one week, two weeks and four weeks after the procedure.<p clas...

Congenital hyperinsulinism (CHI) is a rare hereditary condition that causes excessive insulin production in the clinical picture of severe hypoglycemia. Patients with CHI frequently have mutations in the ABCC8 and KCNJ11 genes, which code for KATP channels in pancreatic beta cells. We present a case of partial diazoxide responsiveness caused by a heterozygous ABCC8 mutation in a child with moderate CHI. A four-month-old term baby with a ...