ESPE Abstracts

Background and aim: Severe hypoglycemic episodes during the daytime of Ramadan fasting is the most feared complication. Sensor-augmented pump therapy with insulin in combination with automatic insulin shutoff (low glucose suspend (LGS)) can be used to reduce hypoglycemia. In a prospective observational study, we investigated the effect of the LGS algorithm on the frequency of hypoglycemia in adolescents with type 1 diabetes who wished to fast Ramadan 2013.<p class="abstext...

Background: Familial Hypercholesterolaemia (FH) is a common autosomal dominant disorder of low-density lipoprotein (LDL) metabolism characterised by elevated levels of plasma LDL-cholesterol (LDL-C), accelerated atherosclerosis and premature cardiovascular disease (CVD). In the Gulf Co-operation Council states, CVD is often diagnosed at a younger age and is the leading cause of mortality. As such, early genetic diagnosis and treatment of FH is important for ri...

Background: Diencephalic syndrome (DS) is a rare disorder of severe emaciation classically associated with infantile Hypothalamochiasmatic low-grade gliomas (HCLGGs) and GH excess. However, diagnostic criteria remain undefined and published literature includes non-specific tumour-related cachexia. In a large optic pathway LGG cohort (n=166), we have previously demonstrated that DS independently predicts multiple tumour progressions and severe endocrine morbidity.<...

Introduction: Homozygous loss-of-function mutations of the growth hormone receptor (GHR) gene result in GH insensitivity due to a dysfunctional receptor protein. Heterozygous mutations may result in a variable clinical spectrum ranging from normal height to severe short stature. Gain-of-function variants have been reported rarely.Case Report: We hereby report the case of a Russian boy who was referred to our endocrine o...

Introduction: Recurrent hypoglycemia is a life threatening condition. And its early diagnosis and correct diagnosis can be crucial to entail survival of the child.Objectives: To review this case with respect to the clinical scenario and critical pathways we should remember while investigating a case of recurrent hypoglycemia.Methods: History: A 5 year old, Pakistani origin, male ch...

Introduction: About 20 thousands of new cases of obesity (Ob) are first registered in children and adolescents in Ukraine annually (morbidity 2.72/1000, prevalence 13.50/1000 of the corresponding population on 01.01.2016). Adolescent Ob shows catastrophic rise (prevalence 8.9/1000 in 2001 vs 28.3/1000 in 2015). Completely unclear the role of Ghr in the etiopathogenesis of obesity in adolescents.Methodology: A total of 39 obese children with HD (14 boys, ...

Introduction: This study evaluated the postnatal growth of infants born with extremely low birth weight (ELBW) < 1 kg for 3 years.Method: Anthropometric measures (z scores) from birth, 2,4.6,12,18,24, and 36 months were measured in 87 randomly selected infants who were born with a birth weight below 1 kg (9-2016: 9-2018). Their growth data were compared to standard growth for normal age and sex using WHO growth standa...

Background: Central precocious puberty (CPP) due to premature activation of GnRH secretion results in early epiphyseal fusion and to a significant compromise in the achieved final adult height as well as psychological consequences. So far only a limited number of genetic determinants have been associated with the pathogenesis in children with CPP. In this original research, rare sequence variants in MKRN3, DLK1, KISS1, and KISS1R genes were i...

Background: Vertical transfer of maternal cells to the fetus via the placenta leads to maternal microchimerism (MMc) in children. Previous studies from USA have shown that the prevalence and degree of MMc was significantly higher in patients with type 1 diabetes (T1D) than in their unaffected siblings and control individuals. To date, however, the frequency of MMc in non-Caucasian T1D patients remains to be examined.Methods</stro...

Background: Trabecular bone score (TBS) is an emerging technology to assess bone microarchitecture of the lumbar spine. In adults, this score has been shown to be a significant predictor for osteoporotic fractures, independently of major clinical risk factors and bone mineral density (BMD), and is a recommended tool in the evaluation and management of osteoporosis, especially secondary osteoporosis. To date, only few studies evaluated TBS in the pediatric popu...