ESPE Abstracts

Background: The origins of 46,XX ovotesticular DSD remains unclear in the majority of the cases. New genetic tools can help identifying genes and loci involved in gonadal development and differentiation.Objective and hypotheses: We report the results of the genetic investigations performed in a 15 years old African adolescent with SRY-negative 46,XX ovotesticular DSD.Method: Clinical evaluation, imaging studies, surgical exploratio...

Objective: To evaluate musculoskeletal development using pQCT in children with coeliac disease (CD) on gluten free diet (GFD) compared with age and gender matched healthy controls.Method: Prospective cross sectional study. 38 children (18 males) with CD on GFD for a duration of 3.6 years (0.6, 12.5) and 38 age and sex matched healthy controls underwent pQCT at 4, 38 and 66% tibial sites. Bloods were collected in CD children only. Results reported as medi...

Background: Quality of life and long-term prognosis are frequently, often severely impaired in craniopharyngioma (CP) patients.Objective and hypotheses: Knowledge of risk factors for long-term outcome is important for optimisation of treatment.Method: Overall survival (OS) and progression-free survival (PFS), BMI, neuropsychological status (EORTCQLQ-C30, MFI-20), and psychosocial status were analysed in 261 patients with childhood-...

Background: Paediatric patients with sellar masses such as craniopharyngioma (CP) or cyst of Rathke’s pouch (CRP) frequently suffer disease- and treatment-related sequelae.Objective and hypotheses: We analysed the impact and prognostic relevance of initial hydrocephalus (HY) and hypothalamic involvement (HI) on long-term survival and functional capacity (FC) in children with CP or CRP.Method: Using retrospective analysis of pa...

Background: Mauriac syndrome (MS) classically involves hepatomegaly (hepatic glycogenosis), growth impairment and cushingoid features in a patient with poorly controlled type 1 diabetes mellitus (T1DM). The typical age of presentation is adolescence. With the advent of improved insulin regimens, MS has seen less frequently. However, new cases appear each year in medical literature.Clinical case: We report the case of a 9 years and 9 months of age male, w...

Introduction: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signaling pathway genes. About 70% of the NS patients have short stature, and human recombinant growth hormone (rhGH) is an established yet not fully standardized treatment.Objective: To assess the first 2 years rhGH treatment effectiveness in NS patients at a single centre.Materials and methods: A total of 20 (16 male) NS patien...

Background: Vitamin D Dependent Rickets Type IA(VDDR1a) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25 dihydroxyvitamin D due to the mutations in the CYP27B1 gene encoding for the enzyme 1α-hydroxylase.Objective and hypotheses: To evaluatethe clinical characteristics, molecular genetics aetiology and long-term outcome of a large nationwide cohort of VDDR-Ia f...

Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency. Growth retardation is a common finding, due to recurrent severe infections and inflammatory complications. Bone marrow transplantation (BMT) can lead to stable remission, with overall pediatric survival rates > 90% after non-myeloablative conditioning transplants. As reported in previous studies, growth rates in CGD recovered following BMT.<strong...

Background: Patients with congenital IGHD or MPHD develop adiposity already "in utero". The effects of growth hormone (GH) treatment on adipose tissue are controversial, many claiming that GH reduces body fat (1.2). In addition there are reports that long-term GH treatment causes glucose intolerance, insulin resistance, followed in some instances by diabetes (3).Objective: To determine whether long-term hGH treat...

Background and aim: Children with premature adrenarche (PA) have often tall stature, advanced bone maturation, and a tendency to be overweight. It has been speculated that PA may lead to unfavourable outcome, including obesity-related metabolic disturbances, but the data on long-term outcome of PA are insufficient. The aim of this work was to describe adult body composition in young females with a history of PA.Subjects and design: This prospective case-...