ESPE Abstracts

Background: Diffuse congenital hyperinsulinism in infancy (CHI-D) mainly arises from mutations in KATP channel genes. In addition, there are also several reports of increased cell proliferation in CHI-D. We hypothesised that the higher rates of proliferation in CHI-D are as a consequence of failure to terminate proliferation in the neonatal period.Objective and hypotheses: To test this we examined the proliferative index (PI) of CHI-D tissue a...

Background: The prevalence of childhood obesity has increased dramatically in the last decades and accounts for a significant increase in morbidity and mortality in adulthood.Objective and hypotheses: To determine the prevalence of 25-hydroxyvitamin D insufficiency and deficiency in overweight and obese children and adolescents.Method: 350 (n=350) children and adolescents (153 males (M), 197 females (F)) were recruited to ...

Background: The congenital form of congenital multiple pituitary hormone deficiencies (cMPHD) is rarely differentiated from the acquired type. cMPHD is due to impaired production of several pituitary hormones, caused by mutations in the pituitary transcription factors genes: PROP1, POU1F1 (PIT1), HESX1, LHX3, LHX4. It includes short stature, delayed puberty, cognitive impairment, obesity and metabolic abnormalities.Objective and hypotheses: To evaluate i...

Background: A greater number of male (M) vs female (F) patients are diagnosed with GH deficiency (GHD). M have larger birth weight (BW), length and head circumference (HC) compared to F; these characteristics could contribute to subtle cephalo-pelvic disproportion and mild head trauma possibly contributing to idiopathic GHD (IGHD) and multiple pituitary hormone deficiencies (MPHD).Objective: To determine birth characteristics including mode of delivery a...

Background: Foramen magnum stenosis (FMS) is a life-threatening complication in children with achondroplasia (ACH) which may require cervicomedullary decompression (CMD). There is no evidence if FMS and CMD affects growth in children with ACH.Aim: To evaluate the impact of FSM and CMD surgery on anthropometric measurements in children with ACH.Methods: Sixty-five patients with ACH ...

Introduction: Pituitary stalk thickening (PST) is a rare disease and can cause hormonal deficits and/or mass effect. The most frequent causes in pediatric age are germ cell tumors (GCT) and Langerhans cell histiocytosis (LCH). Hypophysitis with extension to the stalk is extremely rare in pediatric patients. The aimis to describe 4 pediatric patients which were first diagnosed as hypophysitis but final diagnosis was GCT.Clinical C...

Background: Pediatric osteoporosis is a condition which can stem from genetic causes (Primary osteoporosis), from systemic diseases or from the chronic use of drugs that alter bone metabolism (secondary osteoporosis). Obesity affects bone health in several ways, including bone remodeling, proinflammatory cytokine production and bone marrow microenvironment alteration. We describe the case of a boy who presented spontaneous vertebral fractures.<p class="abs...

Objectives: To examine age at presentation and outcome in children diagnosed with 21-hydroxylase deficient congenital adrenal hyperplasia (21-OHD CAH) in Algeria in the absence of a national neonatal screening program.Design: Retrospective analysis of patients followed in a single centre from 2007 to 2017. The diagnosis of CAH was established on clinical and biochemical grounds ± genetic analysis.Results: Of 168 patients (114F...

Background: For many patients with high-risk cancers, allogeneic stem cell transplant (SCT) is the only curative option. A major risk of SCT is acute graft versus host disease (aGVHD). About 50% of SCT patients develop aGVHD as a part of their course. Glucocorticoids are the mainstay of therapy in aGVHD patients. Of the patients that develop aGVHD, about 50% develop a steroid refractory/resistant form. These patients tend to require higher doses of steroids and many will requi...

Background: Pfizer International Growth Database (KIGS) contains data of Turner syndrome (TS; N=7378) or Noonan syndrome (NS; N=613, female=224; male=389) patients who were treated with rhGH.Objective: To compare the effect of rhGH on near adult height (NAH) in TS and NS patients. We hypothesized a similar outcome in both diagnoses. Determinants of the treatment outcome in NS patients were also assessed.Patients a...