ESPE Abstracts

Background: Significant aspects of metabolic homeostasis are regulated differently in males and females and sex differences can influence diagnostic approach and therapeutic responses. The underlying mechanisms accounting for gender difference remain to be established and may involve genetic and hormonal factors.Aim: This study aimed at evaluating gender differences in anthropometric and metabolic parameters in a large c...

Background: NordiNet® International Outcome Study ([IOS]; NCT00960128), a non-interventional study (2006–2016), assessed the effectiveness and safety of real-world treatment with Norditropin®. Outcomes were assessed in children with growth hormone deficiency (GHD), born small for gestational age (SGA), Turner syndrome (TS), chronic renal disease (CRD), idiopathic short stature (ISS), Noonan syndrome (NS) and Prader-Willi syndrome (PWS)....

Background: Steroids are found in human blood predominantly as sulfated steroids. Conjugation of steroids increases their solubility in blood, facilitating their physiological regulation and excretion. Chromatographic separation and quantification of an extensive number of sulfated steroids is challenging. For instance, androgen sulfates are structurally related and their signals are very similar in mass spectrometry.Objective and hypotheses: Some of the...

Background: Patients with Klinefelter syndrome (SK) have a 47, XXY karyotype and tall stature as a result of overexpression of the SHOX gene. The case of a patient with peculiar phenotype, microcephaly, proportional short stature and 47, XXY karyotype with a deletion in band p11.3 of one X chromosome is presented.Clinical description: A 2-year, 4 month-old boy was referred for study of growth retardation. The product of a first gestation of 39 weeks of h...

Background: Gorham-Stout syndrome (GSD) is a rare disorder characterized by lymphangiomatosis, osteolysis and potentially lethal in the presence of chilothorax.Objective and hypotheses: As the management of GSD is not univocal and outcomes are unpredictable we build a multifaced protocol in order to study its natural history, biomarkers of bone disease and to treat uniformly patients.Method: Seven patients (five males, two females,...

Background: Response to rhGH treatment is extremely variable in pediatric growth disorders; predictors of the response are not yet clearly determined, due to disomogeneity of studied cohorts.Aims and objectives: To investigate the correlation between clinical parameters and height gain after the 1st year of rhGH treatment and at the last visit in eight different aetiologies of short stature, with the aim of identifying predictors of response to rhGH trea...

Background: Vaptans, vasopressin receptor 2 antagonist, are used in adults to treat hyponatremia associated with congestive heart failure, cirrhosis, and the syndrome of inappropriate antidiuretic hormone (SIADH). To date, in paediatric patients with SIADH there are few data about use of vaptans, still considered off-label.Case presentation 1: A 9-yo female with surgically treated suprasellar astrocitoma developed chronic hyponatremia (121–128 mmol/...

Background: Turner syndrome (TS) involves a partial or complete loss of an X chromosome. TS patients have an increased susceptibility to various disorders.Objective and hypotheses: To describe the clinical presentation, genotype and follow-up of TS patients controlled in the Pediatric endocrinology department of our hospital.Method: Retrospective study of patients diagnosed with TS at the ‘Navarra Hospital’ between 1980&#...

Norditropin® was approved for children with short stature due to NS in Japan in 2017. The aim of this post-marketing surveillance study was to evaluate long-term safety and effectiveness of Norditropin® for the approved indication. This real-world non-interventional study (NCT03435627) was conducted February 2018–January 2022. Seventy patients enrolled: 35 received Norditropin® after study initiation (new patients); 35 were previously ra...

Recent years have seen significant progress towards defining the genetic aetiology of neonatal diabetes with >20 subtypes identified. It is likely that all cases of neonatal diabetes result from a single gene disorder since markers of autoimmunity associated with type 1 diabetes are rare in patients diagnosed before 6 months.Heterozygous activating mutations in the KCNJ11 and ABCC8 genes encoding the Kir6.2 and SUR1 subunits of the ...