ESPE Abstracts

Background: The hCG stimulation test is a valuable method for assessing androgen production but there is a need to explore its utility in assessing androgen responsiveness and long-term prognosis.Objective and hypothesis: Our aim was to explore the effect of hCG stimulation on the peripheral transcriptome in boys undergoing investigation for DSD.Method: Thirteen boys undergoing investigation for 46,XY DSD received i.m. hCG 1500 U o...

Introduction: The diagnosis and treatment of patients with rare diseases is often difficult as most clinicians do not encounter them. Therefore, centralization and collaboration between centers of expertise is necessary. European Reference Networks (ERN’s) such as RareEndoERN provide a platform for this, with one of its main thematic groups having a specific focus on rare growth and obesity disorders. Genetic obesity encompasses a heterogeneous group of c...

The “Hybrid Diabetes (HD)” is a new term that emerged in the last few years to describe diabetes with combined features of type 1 and type 2 diabetes. The etiology behind hybrid diabetes is not well understood, and clinical characteristics for these unique patients were not described before. Differentiating HD from other forms of diabetes will lead to a better understanding of the disease process and course, as well as knowing the most appropriate management plan to ...

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) was created in collaboration with the European Reference Network on Rare Endocrine Conditions (Endo-ERN), the European Society for Paediatric Endocrinology and the European Society of Endocrinology to support the needs of the endocrine community.Aim: To describe the patient population and data entered in the EuRRECa Core Registry between June 2...

Introduction: In adolescents and men with PAIS, gynaecomastia has been reported in the majority but its management remains challenging.Objectives: To assess the current management of gynaecomastia as well as clinical characteristics in male PAIS.Materials and Methods: Retrospective review in the I-DSD registry of 46, XY male PAIS who were over the age of 10 years.<p class="abst...

Introduction: Although the safety and effectiveness of recombinant human growth hormone therapy (rhGH) has been reported for several years, the level of consensus on the outcomes that should be reported is unclear. The aim of this systematic review is to study the frequency of reporting of these outcomes in children with GH deficiency (GHD).Methods: A systematic review was performed in Medline, Embase, Cochrane Central R...

Background: The variation in the provision of services in secondary and tertiary care for children and young people living with CAH in the United Kingdom is unknown. We aimed to conduct a nationwide service evaluation to inform from both the patient and clinician perspective.Methods: We conducted an anonymous multicentre survey using online questionnaires for clinicians and CAH patients/carers. Clinical leads from UK cen...

Background: Insulin Tolerance tests (ITT) have long been considered the gold standard for dynamic function testing of the hypothalamo-pituitary-adrenal (HPA) axis. Sub-optimal cortisol responses during an ITT in children may be found in children during ITT without a previous clinical suspicion of Adrenal insufficiency (AI). It is not clear what the clinical significance of this is and whether all of these children require formal synacthen testing.<p class=...

Background: Complication rates following hypospadias surgery are variable and given that hypospadias may be associated with a genetic or an endocrine condition, hypospadias outcome may depend on several clinical factors that require exploration.Aim: To perform a systematic review of cases of hypospadias operated at one tertiary centre to identify clinical determinants of optimal outcome.Methods: Retrospective review of clinical rec...

Background: Calculation of a urinary steroid metabolite ratio (uSMR) may be a useful method of improving diagnostic yield when investigating disorders of steroid hormone synthesis. Our aim was to investigate the range of uSMR in children with suspected disorders of steroid hormone synthesis.Methods: Ten ratios were calculated on steroid metabolite data analysed by GC-MS in urine samples collected between 2008 and 2010 from 94 children who were undergoing...