ESPE Abstracts

Background: The renal cysts and diabetes (RCAD) syndrome caused by defects in the HNF1B is characterized by a broad spectrum of clinical features. While heterozygous point mutations are relatively rare, we focused on gross deletions of the HNF1B that are determined by multiplex ligation probe-dependent amplification (MLPA). Rather importantly, the deletions most often extend beyond the single HNF1B, thus more deleted genes may participate in the clin...

Background: Spontaneous catch-up (CU) growth occurs when a growth-restricting factor is resolved. However, its efficiency is sometimes inadequate and growth deficits remain permanent. The therapeutic toolbox for short stature is currently very limited. Our previous studies using a nutrition-induced CU growth model showed that the level of sirtuin-1 (SIRT1) was significantly increased in food-restricted animals and decreased during CU growth.<p class="abste...

Background: The COVID-19 pandemic has tremendous effects on lifestyle that could potentially cause health-related problems. Therefore, extreme preventive measures were taken, including the closure of schools and after school activities. This dramatic alteration in daily routine could lead to adverse consequence of increasing obesity. In this study we aimed to investigate the change in weight status and body composition parameters of children and adolescents du...

Background: The efficacy of growth hormone (GH) treatment in short, healthy children diagnosed with growth hormone deficiency (GHD) or those meeting the criteria of idiopathic short stature (ISS) suggest that an overlap exists between these two conditions. Although flawed and inconsistent, growth hormone stimulation tests (GHST) are the key diagnostic tool differentiating between GHD and ISS affecting clinical decisions such as treatment eligibility and dose.<...

Context: Pregnancy and parturition involve a complex interplay between maternal health and that of her offspring. Graves’ disease and its management have been associated with adverse pregnancy, labor and delivery, as well as neonatal outcomes. Adaptation of the hypothalamic-pituitary-thyroid axis can be reflected by measuring thyroid function levels in newborn screening (NBS).Objective: To investigate the character...

Background and aims: Disparities in children's height often reflect socio-economic inequalities. Our aims were: (A) to describe anthropometric and socio-demographic data of children with short stature (CDC based height-z score<-2SDS) at age 6-7 years, compared to peers with height-z score≥-2SDS. (B) To assess risk factors for short stature at age 6-7 years based on growth and socio-demographic data at age 0-2 years.Met...

Objective: Craniopharyngiomas, diagnosed and treated during childhood, pose significant challenges due to their location in the sella turcica, adjacent to the pituitary and hypothalamus. Patients often experience endocrine deficiencies which may affect their body composition and metabolic health. We aim ed to explore the body composition components and their interaction with metabolic syndrome components in pediatric patients with craniopharyngioma following n...

Background: Irisin is a myokine involved in the browning of adipocytes, regulation of body composition, and enhancement of glycemic control. Additionally, irisin has been suggested to play a role in the signaling mechanisms associated with activation of the hypothalamic-pituitary-gonadal axis and the onset of puberty. Given the reported relationship between irisin levels and glycemic control, as well as the link between body composition and glycemic control, w...

Introduction: In youth, primary ovarian insufficiency (POI) is due to genetic, autoimmune, iatrogenic, and idiopathic etiologies. When POI is diagnosed early with evidence of an ovarian reserve, fertility preservation can be offered. When the girl is premenarchal, the preferred fertility preservation method is ovarian tissue cryopreservation (OTC) containing primordial follicles. In the past, when OTC was performed in an unselected group of children and adoles...

Background: Detection of type 1 diabetes (T1D) at the pre-clinical stage is possible by detecting islet autoantibodies (IA) years before the appearance of symptomatic diabetes. An efficient screening program based on these antibodies will identify children at risk of developing diabetes during childhood. The antibody detection Israeli research (ADIR) is a general population screening program in Israel searching for children with multiple IA who are at risk of ...