ESPE Abstracts

Background: Congenital hyperinsulinism (CHI) is the most common cause of the persistent hypoglycemia in children and occurs in approximately 1 in 50,000 live births. Genetic testing provides information on the pancreatic histological subtype (i.e. focal vs diffuse) and determines further management and prognosis of the patients. At least 11 known monogenic forms and several syndromes have been associated with CHI. Mutations in ABCC8 and KCNJ11 genes coding pot...

Key words: Primary hypoaldosteronism, aldosterone synthase deficiency, salt-wasting, failure to thrive, CYP11B2 gene mutationIntroduction: Aldosterone synthase deficiency is a rare autosomal recessive inherited disorder. The patients carry mutations in the CYP11B2 gene. It is primary hypoaldosteronism presented in early childhood with electrolyte abnormalities (hyponatremia, hyperkalemia, and metabolic ...

Background: Hypospadias is one of the most common congenital anomalies in males. Surgical repairing aims to improve the aesthetic and functional outcome. The success rate of hypospadias repairing is variable according to the severity of the malformation with a complication rate(CR) of almost 60% in proximal forms. Testosterone treatment before surgery is still controversial and its impact on surgical outcomes, and the best regimen for administration, is unclea...

Introduction: Italy was the first EU country to be affected by COVID-19 outbreak. The sudden change in everyday life was challenging for children and young people (CYP) who rely heavily on peer connections for emotional and social support. Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To compare the diabetes-specific health-related quality of life (D-HRQOL) of CYP with T1D and their parents...

Background: Endocrine disturbances are the most prevalent complications in childhood cancer survivors (CSS), especially in those treated with cranial and cervical radiation for brain tumours, such as medulloblastoma. Recent data have shown frequent delays in the diagnosis and treatment of these complications that may lead to potential side-effects on general health. Apart from the well-known hypothalamic–pituitary and growth disorders observed in CSS, th...

Introduction: Signs of hyperandrogenemia are common through adolescent and young females, hirsutism affecting 5% of reproductive -aged women. The most common cause of hyperandrogenemia and insulin resistance (IR) is polycystic ovary syndrome (PCOS) (1). The differential diagnosis includes congenital adrenal hyperplasia (CAH) (2), androgen secreting tumors, but also very rare genetic syndromes of IR.Case report: A 13 year...

Introduction: Nephroblastoma or Wilms tumor is the most common pediatric abdominal malignancy. Typically, it is found in children younger than 5 years old, girls being more likely to have Wilms tumor than boys. The etiology of the disease is genetic, due to alteration in the development of the genitourinary tract.[1] Treatment is represented by surgery (unilateral nephrectomy), chemo- and radio-therapy. Paraneoplastic endocrine disorders may occur, but there a...

We present the cases of a 3 yo girl diagnosed with precoccious puberty, with a personal history of premature telarchy, genital hair development and vaginal blood discharge at 1yo 2mo, currently in treatment with GnRH agonist, and the case of her younger sister, aged 1 yo, who also presented with premature telarchy. They have 2 older siblings, both of them are clinically healthy boys. Their mother and paternal aunt had normal pubertal development. No other history from females ...

PCOS treatment in adolescence should aim at improving ovarian function, based on the pathophysiology of this condition. We previously described in cystic fibrosis and then in the PCOS an increase in HMGB1, secondary to reduced cystic fibrosis transmembrane conductance regulator (CFTR) expression in the ovary, associated with insulin resistance and inflammation that both characterize PCOS. Inositols and ALA derivatives are considered a good therapeutic option for their possible...

Introduction: Quality of life (QoL) is a multidimensional indicator including several functions and represents an important evaluator of patient’s health, especially in chronic diseases. Treatment with aGnRH in Central Precocious Puberty (CPP) is source of stress for patients and families. The aim of our study is to evaluate QoL and levels of therapy-related stress in patients with CPP and in their families during and after treatment.Material and me...