ESPE Abstracts

Background: Prader-Willi syndrome (PWS) is a rare complex genetic disorder caused by an absence of expression of imprinted genes on the paternally derived chromosome 15q11-q13 region. This study aimed to characterize the perinatal features in a cohort of Chinese individuals with PWS.Methods: We analyzed anonymous data of 134 patients from the PWS Registry in China. Perinatal and neonatal presentations were analyzed, and ...

Background: Among individuals with DSD, some conditions are more prone to develop distress about ones assigned gender (gender dysphoria; GD) than others. For instance, the percentage of gender change and GD in female-raised persons with testosterone synthesis deficiencies is around 50%, whereas GD hardly seems to occur in complete androgen deficiency syndrome. Unfortunately in many studies information on GD and gender role changes often cannot easily be determined and clinical...

Background: A decade ago the ESPE/LWSPE “Consensus Group on management of intersex conditions” proposed the new term Disorders of Sex Development and its acronym DSD as an umbrella term for congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. The Consensus Group intended to replace a potentially stigmatizing vocabulary; however, the new nomenclature attracted criticism.Objectiv...

Introduction: Disorders of sex development (DSD) describes conditions affecting gonadal and adrenal function and therefore to large extent affect fertility. In some cases the gonads have been removed due to risk of malignancy. Information to the patients about their fertility and treatment options have not been optimal in the past.Objective: To describe fertility outcome in the different diagnostic groups of DSD and to assess to what extent assisted repr...

Background: A diagnosis of diabetes in children used to mean type 1 diabetes (T1D) and lifelong insulin therapy. However, over the last decades the spectrum of diabetes has widened and even if auto immunity remains the most prevalent etiology, confounding factors and overlap with other causes of diabetes types sometimes make a revision of the initial diagnosis necessary.Objective and hypotheses: To classify diabetes etiologies in youth with diabetes usin...

Background: Congenital adrenal insufficiency represents a life-threatening condition. Among its multiples causes, mutation of NNT1 is the most recently discovered. We had the opportunity to observe one case. NNT1 is a gene coding for a membrane protein which protects cells from oxidative stress.Objective and hypotheses: As few cases have been published until now, we describe a new case.Results: In a consanguineous (second grade) Al...

Background: Trabecular Bone Score (TBS) is a software-based tool for analysis of DXA images to assess bone microarchitecture in the lumbar region. Several studies have addressed its value in adult population, however, little research has been done in children in which may be useful for bone evaluation during growth.Objective: To evaluate bone density and TBS during childhood and its relationship to other variables such as bone age and height<p class=...

Background: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder due to mutations related to collagen type 1. OI presents itself with low bone mass, resulting in high bone fragility. Bone mass is relevant for determination of the severity of OI. Although bisphosphonate treatment is able to increase areal bone mineral density (aBMD) measured by DXA, there is no correlation to fracture rates.Objective and hypotheses: The aim of this stud...

Background: Metabolic syndrome and insulin resistance are well recognized in adult obesity. Their criteria and prevalence and are still controversial in children.Objective and hypotheses: To evaluate the prevalence and natural history of clinical and biological parameters of the metabolic syndrome in a pediatric cohort of obese subjects. To identify metabolically healthy subjects and the persistence of this phenotype over time.Meth...

Background: This multi-country study, conducted in the USA, is also ongoing in France, Germany, Brazil and South Korea (52 healthcare professionals (HCPs) and 30 patients/caregivers in total). The new device consists of a reusable aluminium body and cap, with a multi-use cartridge system, viewing window, dose-display window, dose-selection knob and injection button.Method: Semi-structured 60-min qualitative interviews were conducted in six major US citie...