ESPE Abstracts

Objectives: This trial (NCT01927861) evaluated the growth-promoting effect and safety of Norditropin® (somatropin; recombinant human growth hormone) in Japanese children with short stature due to Noonan syndrome over four years of treatment.Methods: Pre-pubertal children diagnosed with Noonan syndrome were randomized 1:1 to receive Norditropin® 0.033 mg/kg/day or 0.066 mg/kg/day. Change in...

In Italy, treatment of children with CP is not centralized. We collected data of 117 patients (pts) (M/F 56/41) with CP diagnosed after 01/01/2000, followed-up in 14 centres of paediatric endocrinology belonging to the I.S.P.E.D. Five centres provided data on more than 10 pts (range 12-19), while the remaining on 1-9. 46 pts were diagnosed between 2000-2010 and 71 afterwards. Follow-up was 7.5±4.1 yrs.Results. Histology was adamanti...

Background: Recently, a national database has been developed to register yearly data from all children detected with CAH in the neonatal screening program from 2002 onwards. So far longitudinal data of 105 children have been registered (roughly 65% of Dutch CAH patients) to evaluate medical treatment and long-term effects in CAH. A national CAH work group developed guidelines for diagnostics and follow up in CAH.Objective and hypotheses: Aim of our curre...

Background: The replacement therapy with levo-thyroxine (LT4) in congenital hypothyroidism (CH) aims to ensure normal growth and neuropsychological development. Few data are available about the appropriate dose during childhood and early adolescence.Objective and hypotheses: i) To evaluate LT4/kg per day requirement from diagnosis until 12 years of age; ii) to assess any differences in relation to the different etiology of CH as concern...

Background: Hyperinsulinaemic Hypoglycaemia (HH) is a rare genetic disease and the treatment of HH in cases with unresponsiveness to medical therapy is subtotal pancreatectomy. In a recent study, the authors showed that sirolimus could be an alternative treatment in these patients. We aimed to evaluate the effectiveness of sirolimus in a newborn with HH.Case: A 10 day-old neonate presented with hyperinsulinaemic hypoglycaemia (glucose: 26 mg/dl, insulin:...

Background: It is now widely accepted that chemical pollutants in the environment can interfere with the endocrine system. The impact of endocrine disrupting chemicals on puberty disorders is concerned. bisphenol-A (BPA) has been measured in fetal plasma. There are different toxic effects with different doses of BPA.Objective and hypotheses: To observe vaginal opening day (VOD), hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression...

Background: It is now widely accepted that chemical pollutants in the environment can interfere with the endocrine system. The impact of endocrine disrupting chemicals on puberty disorders is concerned. bisphenol-A (BPA) has been measured in fetal plasma. There are different toxic effects with different doses of BPA.Objective and hypotheses: To observe vaginal opening day (VOD) hypothalamic kiss-1 gene and ovarian estrogen receptors (ER) gene expression ...

Introduction: The diagnosis of GHD requires the coexistence of anamnestic, auxological and laboratory data. The latter are burdened by the poor accuracy and adverse effects of the stimulation tests. A recent european audit (Horm Res Paediatr 2019;92(3): 150-156) on GH diagnostic reported as preferred tests in Italy Insulin tolerance test (ITT), glucagon, clonidine, arginine and Arg-GHRH. We conducted a survey to explore which of them are most used in It...

Background: Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in neonates and children. It is important to minimize recurrence of episodes of hypoglycaemia. In some cases, Hypoglycemia was not controlled even after near total pancreatectomy.Objective and hypotheses: To study the glycemic response of sirolimus in patients with hyperinsulinemic hypoglycaemia that was not responsive to octreotide and calcium channel blocker aft...

Background: Treatment of congenital primary hypothyroidism (CPHT) fluctuates between two opposite risks for the neuro-cognitive development in a critical window during the neonatal period, under- and over-treatment.Objective: To investigate the relevance of current international recommendations of 10–15 μg/kg per day for L-thyroxine (lT4) doses in CPHT.Method: fT4 and TSH were measured...