ESPE Abstracts

Introduction: Complete Androgen Insensitivity Syndrome (CAIS) is characterized by a complete external genitalia appearance and testicular development in 46,XY individuals harboring pathogenic allelic variants in the AR gene. Due to growing evidence regarding the low risk of germ cell tumors (GCT) in AIS. Prophylactic gonadectomy has been debatable in the CAIS management, mainly due to the absence of an accurate biomarker for GCT....

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...

Background: Growth hormone (GH) therapy typically involves daily administration of recombinant-human growth hormone (r-hGH) injections over many years. Long-term treatment attracts substantial costs due to the regular usage of injector pens. We conducted a study to understand the environmental impact of reusable and disposable GH injector pens.Aim: To assess environmental sustainability of Aluetta® reusabl...

Introduction: Failure to thrive (FTT) is a common entity encountered by pediatricians. It can be caused by inadequate energy intake or “organic causes” such as inborn errors of metabolism or disorders of the endocrine system. One cause that is rarely seen is a deficiency of aldosterone.Case presentation: A set of 3-month-old monozygotic male twins presented with failure to thrive and dehydration. Initially, they were evaluated ...

Introduction: Noonan syndrome (NS) is a relative frequent genetic disorder, mainly characterized by dysmorphic face features, congenital heart defects and short stature. Though delayed pubertal development has been described in both sexes, the physiopathological root remains unclear. This study aims at characterizing puberty development in Noonan syndrome.Materials and Methods: The study population included 111 individuals with a molecul...

Background: Lipodystrophies are a group of rare disorders characterized by varying degrees of body fat loss. The metabolic abnormalities associated with lipodystrophy include insulin resistance, often leading to diabetes mellitus, hypertriglyceridemia that may be severe enough to cause acute pancreatitis and hepatic steatosis that may lead to cirrhosis.They can be either genetic or acquired, generalized or partial. Acquired generalized l...

Background: GH revolutionised treatment of children with GH deficiency, conditioning an improvement in height outcome but also an increase of lean body mass and reduction of fat mass.Objective and hypotheses: The authors aimed to evaluate the growth and weight response in children with GH deficiency and identify potential factors affecting the outcome of these patients.Method: The growth and weight data of 58 children (33 boys and ...

Background: Central precocious puberty is due to premature activation of the hypothalamo–pituitary–ovarian axis. In girls it is idiopathic in up to 95%. Children with clinical rapid progression are treated with prolonged activity GnRH agonist.Objective and hypotheses: Characterise cases of idiopathic central precocious puberty (ICPP) followed at our hospital comparing the group treated with GnRH agonist (group A) with the group not treated (gro...

Introduction: Wilms tumor is the most frequent pediatric renal malignancy and its usual presentation is an abdominal mass or hematuria. Unusual presentations have also been reported, such as paraneoplastic syndromes (acquired von Willebrand disease, sudden death due to pulmonary embolism and Cushing syndrome). These conditions can precede, occur concomitantly or present in a later phase of tumor development. Precocious puberty, as paraneoplastic endocrine synd...

Background: Transient hypothyroxinaemia of prematurity (THOP), defined as low levels of FT4 without the expected TSH surge, may concern up to 50% of infants born <30 weeks’ gestational age. Most studies showed a link between THOP and impaired neurodevelopment, as shown in the review of Eerdekens. Data about the benefit of supplementation are scarce, with few randomised trials and inconclusive results. To date, there are no clear recommendations regard...