ESPE Abstracts

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...

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...

Background: Disorders (or differences) of sex development (DSD) are rare congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. The luteinizing hormone/chorionic gonadotropin receptor (LHCGR) is important for male sex development. LHCGR mutations can cause Leydig cell hypoplasia, which is an autosomal recessive disorder.Objective and hypotheses: We found two heterozygous mutations in the LHCGR, a n...

Background: Steroidogenic factor 1 (encoded by the NR5A1 gene) is a transcriptional regulator of genes involved in gonadal development and steroidogenesis. Mutations in NR5A1 are associated with a wide phenotypic spectrum in 46,XY individuals ranging from partial/complete gonadal dysgenesis or anorchia, ambiguous genitalia, hypospadias, to infertility. However, little is known about the longitudinal course of endocrine markers for Sertoli and Leydig cell func...

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...