ESPE Abstracts

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Typical features include pre-/postnatal growth impairment, hyperinsulinaemic hyperglycaemia with fasting hypoglycaemia, nephrocalcinosis, recurrent sepsis, little adipose tissue, soft tissue overgrowth, hirsutism, acanthosis nigricans and facial dysmorphism. However, additional comorbidities may be present, affecting prognosis.<...

Background: Osteoporosis in children with osteogenesis imperfecta type 1 (OIT1) and acute lymphoblastic leukaemia (ALL) is characterised by high bone turnover. However the ability of spontaneous healing and reshaping of bone is retained in ALL even in the absence of bisphosphonate (BP) therapy, but impaired in OI.Objectives: To compare the response to BP therapy in children with ALL and OI.Methods: Retrospective review of children ...

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Previous reports demonstrate a role for recombinant human IGF1 (rhIGF1), however optimal treatment strategy remains unclear.Case series: Four males with DS have been treated with bolus rhIGF1 (see table below). They had no IGF1 response on an IGF1 generation test. No long-term side effects of rhIGF1 were repor...

Background: Among their metabolic effects, GH and its mediator IGF1 have been reported to influence hematopoiesis. Indeed, GH/IGF1 axis promotes erythropoiesis and GH deficiency (GHD) has been associated with a normochromic and normocytic anemia both in adults and in children. In contrast, in vivo data on the effects of GH/IGF1 axis on leukocytes and platelets are scanty.Objective and hypotheses: To evaluate the effects of 4-years GH replacement...

Introduction: Pituitary adenoma (PA) in childhood is a rare disease, accounting for 3 % of all intracranial paediatric neoplasm, and between 3 to 6% of all PA. There are only few large studies describing paediatric pituitary adenoma and even fewer studies with long-term outcome.Methods: In this retrospective study, clinical, biochemical and radiological parameters and outcome of paediatric patients (<16 years...

Introduction: Peripubertal children with delayed puberty frequently display a poor growth rate prompting endocrine work-up. Whether priming with sex steroids should routinely be performed in these patients to improve specificity of growth hormone stimulation tests (GHST) is unclear. Treatment with sex steroids in constitutional delay of growth and puberty (CDGP) is also debated.Patients and Methods: This multicenter retr...

Background: Craniopharyngiomas are the commonest pituitary tumours of childhood. Though benign histologically, their localisation and invasive tendency can cause significant neuroendocrine morbidity and late mortality.Objective and hypotheses: To prospectively determine risk factors for neuroendocrine morbidity by longitudinal survival analysis.Method: All children with craniopharyngioma newly presenting to our quaternary centre be...

Background: CYP11A1 encodes the P450 side chain cleavage (scc) enzyme. This protein localises to the mitochondrial inner membrane and catalyses the conversion of cholesterol to pregnenolone which is the first and rate-limiting step in the synthesis of all steroid hormones. P450scc deficiency is a rare disorder that can present as adrenal insufficiency and varying degrees of disorder in sex development (DSD) in 46XY individuals. Typically, this disorde...

Background: Disorders of carbohydrate metabolism in children and adolescents with cystic fibrosis occur from 5 to 12.6%, significantly increasing during the teenage period and reaching 24–50% in adults.Method: An analysis of 499 medical records was conducted. All the patients were treated in the Russian Children’s Clinical Hospital in 2012. The survey was carried out on carbohydrate metabolism and indications according to children after 12 year...

Background: Among children with idiopathic short stature, Italian data reported a prevalence of short stature homeobox-containing gene (SHOX) deficiency disorders (SHOX-D) near to 1/1.000-2.000 (1.1-15%) with a wide phenotypic spectrum. Current guidelines support recombinant human growth hormone (rhGH) therapy in SHOX-D children, but long-term data are still lacking. This national survey aims to evaluate long-term efficacy and safety of rhGH therapy in Italian...