ESPE Abstracts

Background: Disorders of sex development (DSD) may be associated with adverse psychosocial and psychosexual outcomes in adults. However, there is a paucity of information on health-related quality of life outcomes in parents and young children with DSD.Objective: To evaluate the use of parent-reported outcome (PRO) questionnaires that can be routinely used in the outpatient setting to assess the impact of DSD on parents ...

Background: Craniopharyngioma is an embryonic tumor of low-grade malignancy. Children and adolescents with this diagnosis are analyzed concerning quality of life (QoL) and (progression-free) survival within the project KRANIOPHARYNGEOM 2007.Methods: The prospective, multi-center project consists of a randomized, unblinded substudy with adaptive design and an observational study. The randomized substudy for incompletely r...

Central precocious puberty (CPP) results from premature activation of the hypothalamic-pituitary-gonadal axis through the activation of the gonadotropin releasing hormone (GnRH). Gain-of-function mutations of the KISS1 and KISS1R genes or loss-of-function mutations of the makorin RING-finger protein 3 (MKRN3) have been linked with CPP. Moreover intronic and intragenic variants harbouring the imprinted loci of MKRN3-MAGEL2 and DLK1 g...

Aims: The golden standard to characterize pubertal maturation is the analysis of steroid hormones in the blood. The aim of the investigation was to assess whether the analysis of salivary steroids is similarly able to characterize male pubertal development.Methods: The investigation included 165 normal boys (mean age 12.7±2.8 years, mean body mass index 19.6±4.2 kg/m2). Pubic hair stages were stratified by Tanner and testicular volum...

Background: High amounts of protein in meals increase blood glucose in patients with type 1 diabetes. Fat delays the increase of blood glucose. Till now we do not know the amount of insulin necessary to prevent the increase of blood glucose after a fat and protein rich meal (FPRM).Aim: To find the Insulin dosage to normalize glucose level after a FPRM.Patients: Sixteen patients with type 1 diabetes (mean±SD; Age 19.7±2.7 ...

Background: An increasing need for non-invasive, out-patient based investigations has necessitated a re-evaluation of urinary gonadotrophins (uGn) for assessing puberty.Objective: Prospective evaluation of the relationship between first morning uGn measured by immunoassay and corrected for creatinine (uLH:uCr; uFSH:uCr), and basal serum gonadotropins (sLH, sFSH) and in response to LHRH stimulation test. Prospective evaluation of uGn trend in patients rec...

Background: In the optimal care of children with DSD, it is considered good practice to work within a multidisciplinary team (MDT) and engage in opportunities for professional development.Method: To explore the current models of MDT practice and the extent of professional development in specialist DSD centres, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in 2014.<p class="...

Background: The approach to investigating a newborn with a suspected DSD is likely to vary between centres and may be influenced by local availability.Method: To explore the current diagnostic practice and needs, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in 2014.Results: A total of 77/124 (62%) clinicians, in 74 centres, from 38/42 (91%) countries res...

In the history of biosynthetic GH, first prediction models on long term outcome of therapy were based on large multinational cohorts of various growth disorders and have concentrated on GH dose. In this study we analyzed the 1st year and final height (FH) data in a large single center cohort (center of expertise for rare growth disorders) and compared patient outcome and predictions in GHD and SGA. Our aim was to predict treatment outcome using simple previously suggested para...

Background: Hypospadias surgery is usually performed during infancy at which time parents act as proxy decision makers. Parental decisional regret, a common phenomenon after hypospadias surgery, may be affected by the process of informed consent where decision making between parents and healthcare provider is shared based on available evidence and individual concerns.Objective: To identify short- and long-term parental c...