ESPE Abstracts

Background: Patients with childhood-onset GH deficiency (GHD) are usually retested in late adolescence or young adulthood, after achievement of final height, to verify whether they need to continue GH treatment. Most of the patients found to have idiopathic GHD when tested as children have normal GH responses when retested in the early or late adolescence. Indeed, the 2007 Consensus guidelines for the diagnosis and treatment of GHD adults recommended that idiopathic GHD patien...

Background: SHOX encodes a transcription factor implicated in skeletal development. Approximately 70% and ~2.5% of Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) patients, respectively, have a defect in SHOX or its regulatory regions.Objective and hypotheses: i) To perform SHOX mutation screening in a cohort of 585 patients referred with a clinical suspicion of LWD or ISS. ii) To determine which is the <e...

Background: Liver steatosis (LS) is diagnosed in obesity at very early ages, not exclusively related to overweight severity.Objective and hypotheses: To investigate the features of patients diagnosed with obesity associated LS (ultrasonography).Method: We retrospectively studied 88 obese (BMI>+2 SDS) children with LS (LS-OB) and 88 age, gender, race and puberty matched obese children without LS (no-LS-OB). BMI-SDS, body composi...

Background: The correct diagnosis of growth hormone deficiency (GHD) and the definition of growth response in the management of growth hormone (GH)-treated children is controversial.Objective and hypotheses: To evaluate: i) short-term and long-term efficacy of GH treatment; ii) various criteria commonly used to define poor response to GH therapy and compare them in the same cohort of GHD patients.Method: Our study includes 94 child...

Background: Short stature may represent a significant psychosocial problem. The rationale for GH treatment has traditionally rested upon the clinical improvement in terms of growth and well-being. Great importance is also associated with the adherence to the therapy.Objective and hypotheses: We have investigated the benefits obtained by GH treatment, the factors that positively influence growth, the differences between ‘objective’ and ‘sub...

Introduction: Type 1 Narcolepsy is a rare pediatric condition characterized by central hypersomnia secondary to hypocretin deficiency. It can also involve the neuroendocrine axis, in particular determining obesity and central precocious puberty (CPP).Objectives: The primary aim of this study is the evaluation of endocrine and auxological aspects at diagnosis and during follow-up in children affected with T1N, in treatmen...

Background: Liver steatosis (LS) results from ectopic fat deposition and can be present in obesity even at early ages. Similar to insulin resistance, the onset of LS does not seem to depend exclusively upon the severity of obesity and shows a large interindividual variability.Objective: Our objective was to develop a predictive normogram for LS in children and adolescents with obesity ba...

Aim: to evaluate sleep quality by accelerometry and its association with anthropometry and biochemical parameters in children and adolescents after a multidisciplinary interventionSubjects Materials and Methods: One hundred and twenty-two children and adolescents with abdominal obesity, aged 7 to 16 years, were included in a multidisciplinary intervention study to lose weight. Abdominal obesity was diagnosed using the waist circumference...

Short stature is one of the most common concerns presented to pediatric endocrinologists. ISS describes a heterogeneous group of children with a height of more than 2 SD score (SDS) below the corresponding mean height for a given age, sex, and population group without underlying aetiology. The primary objectives of GH treatment are acceleration of growth velocity to promote normalization of stature during childhood and attainment of normal FAH.Ob...

Introduction: Early identification of classic 21OH-Congenital Adrenal Hyperplasia (21OH-CAH) through newborn screening (NBS) is crucial to prevent adrenal crises, especially in males. Today 21 OH-CAH NBS is performed in 5/21 regions of Italy. This study aims to report the results of 21OH-CAH NBS in Italy from 2006 to 2019.Methods: All patients underwent a dried blood spot (DBS) test for 17OH-progesterone (17OHP) within t...