ESPE Abstracts

Background: Uric acid and Triglycerides/HDL ratio are an important risk factor for cardiovascular diseases.Aim: To investigate how Triglycerides/HDL ratio and uric acid are correlated with children’s biochemical and anthropometric characteristics, depending on the predisposition for metabolic syndrome (MetSyn).Methods: 110 students, 6–12 years old, living in Sparta-Greece, participated in our research. Anthropometric and ...

Background: Sleep is a complex and essential biological process that is required on a daily basis for all humans, playing a vital role in the maintenance of the homeostasis in short and long term.Aims and objectives: To investigate the role of sleep hours in correlation with risk factors for metabolic disorders in a children population.Methods: The program was implemented in 949 children (5–12 years old) living in Sparta-Greec...

Background: Mutations in POU1F1 is a rare cause of combined pituitary hormone deficiency, which commonly includes GH, TSH and prolactin deficiencies and characterised by hypoplastic anterior pituitary.Objective and hypotheses: To present a case of severe short stature and developmental delay 1.5 years old girl, who was admitted to our hospital because of short stature.Method: Hypopituitarism panel’ genes were sequence...

Background: Transient neonatal hypoparathyroidism (hPT) by inhibition of fetal parathyroid secondary to undiagnosed asymptomatic hyperparathyroidism (HPT) in the mother often debuts as late neonatal seizures.Objective and hypotheses: To emphasise the indication of maternal metabolic study (Cacium-Ca-, Phosphorus-P- and PTH) in addressing late neonatal hypocalcemia, especially in the case of late neonatal hypocalcemic seizures.Metho...

Introduction: After contact with the antigen, lymphocytes require activation for proliferation and differentiation into effector cells. Activation of lymphocytes results in the expression of activation markers. The CD69 antigen appears first on the surface of lymphocytes. This occurs one hour after receiving the activation signal. The CD69 molecule acts as a cellular stimulating signal, causing further activation and proliferation of cells, stimulating the syn...

Introduction: Floating-Harbor syndrome is a rare autosomal dominant genetic disorder caused by mutations in SRCAP gene. This condition is characterized by dysmorphic facial features, short stature and expressive language delay. Here we present a clinical case of a child with Floating-Harbor syndrome.Clinical case: A girl to consanguineous healthy parents was born at 37 gestation weeks with height 47 cm (SDS=-0,46) and weight 224...

Introduction: Approximately 25% of congenital hyperinsulinism (CHI) patients are unresponsive to medical therapy. These cases are usually associated with inactivating ABCC8/KCNJ11 genes mutations or rarely with dominant GCK variants. Activating dominant mutations in the CACNA1D gene were recently found to cause mild form of CHI, muscle hypotonia and autistic features.Objectives: Herein we descr...

Introduction: The diagnosis of growth hormone (GH) deficiency (GHD) is complicated by the low specificity of GH testing, especially in children before and during early pubertal stages. Sex steroid priming reduces false positive results in pre- and early pubertal children. However, only a small number of studies have assessed its efficacy in improving the diagnostic accuracy of GHD investigations.Aim: To evaluate the effe...

Context: Pituitary apoplexy is rare endocrine emergency, resulting from ischemia and/or hemorrhage and necrosis of a pituitary tumor (typically an adenoma). Children and adolescents show severe headache sometimes associated with cranial neuropathies from compression of the optic chiasm or the cavernous sinus.Case presentation: A 15-year-old boy was admitted with severe headache and vomiting since 3 days, without visual d...

Hypogonadotropic hypogonadism is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients reach the diagnosis in late adolescence or in adulthood. A timely, appropriate diagnosis implicates a better clinical outcome and treatment timing. We describe the clinical case of a 15-year-old girl with primary amenorrhea. Stature and weight were in accordance with mid parental height; Tanner stage: PH2 B1. FSH, LH, oestradiol showed pr...