ESPE Abstracts

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...

Idiopathic Ketotic Hypoglycemia (IKH) is the most common non-iatrogenic cause of hypoglycemia in children beyond infancy. The severity of the symptoms and frequency of hypoglycemic episodes may vary among the patients. The etiology of IKH is unclear; disturbances in gluconeogenesis, glycolysis and glycogenolysis were regarded as possible causes. Familial IKH recurrence is often observed, suggesting a genetic basis of glucose homeostasis dysregulation.We ...

Objectives: Celiac disease (CD) is a life-long inflammatory disease of the gastrointestinal tract that affects genetically susceptible individuals and is associated with several autoimmune diseases. The aim of the study was to evaluate the prevalence of coexistent autoimmune endocrine disorders in children and adolescents diagnosed with CD.Patients and Methods: Children diagnosed with CD in the Paediatric Gastroenterolog...

Adrenocortical tumours are a rare disease in the paediatric population, with a higher prevalence in children under 5 years. The aetiology is partially known; in some cases it is related to mutations in the tumour suppressor gene p53 (TP 53). The classical symptoms of the Cushing syndrome are not usually present in children, so we should suspect this disease in children and teenagers with obesity or with slow growth velocity.Methods: We report a case of a...

Case presentation: A 17 month old female child was transferred to our hospital from another hospital where she was admitted to the intensive care unit (ICU) due to cerebral edema, diabetic acidosis and severe dehydration. The patient had fever, polyuria, polydipsia and vomiting presented four days before admission. At her admission she was unconscious with dilated pupils, no reaction to painful stimuli (GCS 4/15) and Kussmaul breathing. Her initial blood glucose level was 391 ...

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystemic neurocutaneous disorder characterized by an increased risk of benign and malignant tumor formation (neurofibromas, glioma and gastrointestinal stromal tumor). The incidence has been described to be around 1 in 2,500–3,500 live births, and the estimated prevalence is 1 in 4,000–5,000. Although it was first described by von Recklinghausen in 1882, the formal diagnostic criteria were pub...