ESPE Abstracts

The European Reference Networks (ERNs) have been installed by the European Union to promote the patients’ rights in cross-border health care in 2017. They are accredited networks of health care providers offering transparency and dissemination of expertise to make an individual choice for best care. The ERN for rare endocrine conditions (Endo-ERN) is the largest ERN and has the aim to bridge care from infancy to senescence. Therefore, it has an adult and a paediatric cha...

Background: The European Programme on Cooperation of Science and Technology (COST) funds the formation of networking activities. These are especially favorable for research around rare diseases, because experts and scientists maybe at different centres and an international collaboration is needed.In November of 2013 the COST Action DSDnet was started. Currently 18 different European countries are participating and countries from all continents have voice...

Background: The European Programme on Cooperation of Science and Technology (COST) funds the formation of networking activities with Horizon 2020. In November 2013, the COST Action DSDnet was started and currently 22 European countries as well as six additional partner countries participate. The EU plans to instal European Reference Networks (ERN) by 2016 for defined rare conditions.Objective and hypotheses: DSDnet encompasses five working groups (WGs) w...

46,XY differences of sex development (46,XY DSD) comprise a very heterogeneous group of people amongst DSD. While some conditions are well characterized on the molecular level, e.g. androgen biosynthesis enzyme deficiency or DSD due to genetic variants in the androgen receptor, many 46,XY DSD patients lack a specific diagnosis, especially those people where gonadal development is affected. A specific diagnosis, however, is helpful to develop an individualized management progra...

Background: EuRRECa (European Registries for Rare Endocrine Conditions) is a new project incorporating the development of a core endocrine registry and the development of an e-reporting programme for rare endocrine conditions (e-REC) that are covered within Endo-ERN (https://eurreca.net/e-rec/).Methods: 24 Endo-ERN centres within 12 countries participated in a pilot phase of e-REC...

X-linked hypophosphatemia (XLH) is the most common genetic disorder of phosphate homeostasis. It is caused by inactivating mutations in the PHEX gene, which encodes a phosphate regulating endopeptidase predominantly expressed in osteoblasts, osteocytes, and odontoblasts.In children there is a broad phenotypic spectrum of XLH ranging from isolated hypophosphatemia without clinical signs up to severe symptoms, such as rickets, extreme lower limb d...

Background: Pseudohypoparathyroidism (Albright hereditary osteodystrophy (AHO)) is a rare congenital disorder mainly affecting bone and thyroid metabolism as a result of resistance of parathyroid hormone (PTH) and thyrotropin (TSH), gonadotropins, growth hormone-releasing hormone (GHRH) and calcitonin in the target tissues. According to the consensus statement "Diagnosis and management of pseudohypoparathyroidism and related disorders" published in 201...

Background: Neonatal severe hyperparathyroidism (NSHPT) has been associated with inactivating mutations of the calcium-sensing receptor (CASR) gene. Impaired inhibition of PTH secretion by extracellular ionized calcium and decreased urinary excretion of calcium leads to severe hypercalcemia in the first days of life. Calcium responsiveness of the CaSR is amplified by type 2 calcimimetic agents like cinacalcet, which has been able to normalize PTH and calcium levels in cases of...

Background: 46, XY-disorders of sex development (DSD) are due to different causes like androgen insensitivity, gonadal dysgenesis, defects in testosterone metabolism and others. Exact diagnosis is mandatory prior to medical advice, therapeutic steps, or even surgical procedures. To show the difficulties of gender assignment before and also after a correct diagnosis we describe a patient who waited 35 years for the complete diagnosis, but was advised, treated and operated befor...

Research Aim: Diabetes type 1 can negatively influence testicular function and fertility but the pathomechanisms on the testicular level remain to be elucidated. Therefore, the aim of the study was to evaluate effects of diabetes mellitus type 1 disease on testicular function.Material and Methods: BB/OKL rats developed type 1 diabetes during adolescence. Rats were treated with different Insulin implants to achieve suffic...