ESPE Abstracts

Background: More than half of newborns with central congenital hypothyroidism (C-CH) have moderate-to-severe hypothyroidism in the neonatal phase, requiring immediate thyroxine therapy to prevent brain damage. The Israeli newborn screening for CH is based on the measurement of total T4 (TT4) followed by TSH measurement. However, when TSH is within the normal range the physicians are not informed of the results and therefore the diagnosis of C-CH and initiation...

Background: NGLY1 encodes the enzyme N-glycanase that catalyzes protein deglycosylation in the process of protein degradation. Loss of function mutations in NGLY1 lead to a disorder of N-linked deglycosylation which is a rare multisystemic disease. The typical phenotype includes intellectual disability, liver dysfunction, muscular hypotonia, involuntary movements and decreased or absent tear production. Adrenal insufficiency has been previously reported in onl...

Background: Type 1 diabetes is one of the most common chronic diseases in childhood. Parents of children with type 1 diabetes are significantly involved in the treatment, rendering them vulnerable to parental stress. Psychological difficulties experienced by the parents may have adverse effects on disease management and the child's psychological and somatic health.Objectives: To assess parental stress and factors in...

Purpose: Understanding the normal range of laboratory values as pertained to different age groups and males or females is paramount in health care delivery. We aimed to assess the distribution of glucose levels by age and sex in the general population of children using a large-scale population-based cohort.Methods: A retrospective study with real-world de-identified data from a large, state mandated health fund in Israel...

Background: Endogenous Neonatal Cushing's syndrome (CS) is a rare condition with around 100 cases reported worldwide. Pneumocystis Jiroveci pneumonitis (PJP) is a well described, albeit rare, complication of exogenous CS (i.e. CS resulting from external glucocorticoids). The pneumonitis usually occurs following reduction of glucocorticoid dosage and is therefore thought to be triggered by an inappropriate immune reaction evident after glucocorticoids withd...

Background: Disorders of the calcium sensing receptor (CaSR) cause hyper- and hypo- calcemia, depending on the location and type of mutation. Familial hypocalciuric hypercalcemia is a benign disorder in which calcium levels are slightly elevated in the presence of slightly elevated parathyroid hormone (PTH). Neonatal severe hyperparathyroidism (NSHPT) is a rare life-threatening disorder in which there are high levels of calcium accompanied by high levels of pa...

Background: Medical nutrition therapy is one of the cornerstones of the treatment of type 1 diabetes. Nutrition is affected by many factors including ethnicity, socioeconomic background, and culture.Objectives: To evaluate the nutritional status in a cohort of children with type 1 diabetes from different ethnic backgrounds and to seek differences among the groups. In addition determine the effect of nutrition on metaboli...

Background: Though the genes and signalling pathways involved in sexual development have only been partially elucidated, it is known that their disruption can result in disorders of sexual development (DSD). XX ovarian dysgenesis (XX-OD) is a rare, genetically heterogeneous disorder characterized by underdeveloped and dysfunctional ovaries. We previously identified a novel missense mutation in Nucleoporin107 (Nup107, c.1339G>A, p.D447N), an essential compo...

Introduction: Childhood obesity is associated with several complications, involving many systems. The prevalence of respiratory problems, such as obstructive sleep apnea syndrome (OSAS), is higher in obese children and adolescents. In fact, OSAS affects 13–59% of obese children and the severity is strongly associated with weight excess. Although overnight pulse oximetry (PO) can be used for diagnosing OSAS, a complete night polysomnography (PSG), which re...

Background: Phosphoglucomutase 1 (PGM-1) deficiency is a congenital disorder of glycosylation caused by an impairment of glucose-1-phosphate and glucose-6-phosphate interconversion.The clinical phenotype of PGM1 deficiency is variable and includes several endocrine manifestations such as recurrent hypoglycemia and short stature, which may be associated with the decreased levels of growth hormone (GH), insulin like growth factor-1 (IGF1) ...