ESPE Abstracts

Background: Type 1 diabetes (T1D) contributes to altered lipid profiles and increased cardiovascular disease (CVD) risk. Youth with T1D may have subclinical CVD within the first decade of diagnosis.Objective: To assess risk factors associated with dyslipidemia in young subjects with T1D.Study Design and Methods: A longitudinal and cross-sectional retrospective cohort study was cond...

Objective: To describe clinical manifestations of SARS-CoV-2 infection in children, adolescents, and young adults with established type 1 diabetes and explore the effects of COVID-19 on glycemic control and disease course.Methods: Observational study conducted at three pediatric diabetes clinics in Israel between mid-March-2020 and mid-March-2021. Included were young people with established type 1 diabetes, <30years, ...

Background: Aetiologic causes should be evaluated in patients with central diabetes insipidus. Inflammatory and malign diseases must be exclude.Objective and hypotheses: A 9-year-old girl suffered from polyuria and polydipsia was diagnosed CDI. Adenohypohysis height and infudibulum thickness were increased 8 and 9 mm respectively. Physical findings were consistent with Tanner stage 1, height SDS −0.48, and BMI 91 percentile. Tumor markers and adeno...

Background: Adrenocortical tumor is very rare in the pediatric age group. These tumors may cause peripheric precocious puberty, Cushing’s syndrome or both. It is seen most commonly in children under 5 years of age and fourth decade. p53 mutation and other pathologies that may accompany should be investigated especially in young children.Objective and hypotheses: A 18-month-old boy was brought with pubarche and phallic enlargement, and was noticed 6 ...

Background: HVDRR is characterised by hypocalcaemia, secondary hyperparathyroidism and severe early-onset rickets in infancy and is diagnosed easily especially associated with alopecia.Objective and hypotheses: Successful treatment requires reversal of hypocalcaemia and secondary hyperparathyroidism and is usually failed by high dose calcitriol but sometimes accomplished by administration of high doses calcium. Some patients need enteral or parenteral co...

Background: Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is a rare condition inherited as an autosomal dominant trait. The responsible genetic defect is in the region 10p. Phenotype is very similar to DiGeorge Syndrome (DGS) which occurs due to 22q11 microdeletion.Method: An 8-year-old girl was referred to Pediatric Endocrinology outpatient department because of hypoparathyroidism. She was born at 36 weeks after a normal pregnancy and ...

Background: Ovarianleucodystrophies are one of the rarest leucodystrophies associated with primary ovarian failure. Patients may present with variable disease manifestations such as neurologic, psychiatric or ovarian failure. Disease onset may occur in infancy, adolescence or adulthood caused by mutation in the eukaryotic initiation factor 2B (eIF2B) which has a poor prognosis.Objective and hypotheses: Seventeen-year-old girl was brought with tremor, gai...

Background: Drug intoxication is one of the rare reasons of hyperinsulinism; it may occur not only accidentally but also deliberately.Objective and hypotheses: Herein, we report a case who presented with factitious hyperinsulinaemic hypoglycemia and diagnosed with Münchausen syndrome by proxy (MSBP) which is an uncommon condition of child abuse.Method: A 7-year-old girl was referred to our department due to hyperglycemic and h...

Introduction: Magnesium is the second most abundant intracellular cation, and its low level causes several side effects related to hypoparathyroidism, hypocalcaemia, and vitamin D deficiency. Furthermore, some of the cases of hypomagnesemia are linked to platinum-based chemotherapy, resulting in neurotoxicity and nephrotoxicity. Dorsal root ganglion is the main target of platinum drugs, whereby its signs and symptoms can be detected months after chemotherapy. ...

Background: MODY is an autosomal dominant inherited type of diabetes with significant genetic heterogeneity. To date, there are mutations in more than ten different genes that result in the MODY phenotype and new mutations causing MODY are still being found.Objective and hypotheses: In this study, we aimed to perform a molecular analysis of pediatric MODY patients by next-generation sequencing which enables the simultaneous analysis of multiple genes in ...