ESPE Abstracts

Background: Neonatal diabetes mellitus (NDM) comprises a group of monogenic disorders caused by mutations in genes involved in pancreatic development or insulin secretion. Accurate and rapid molecular diagnosis of NDM is pivotal for making decision on the treatment strategy. Next-generation sequencing (NGS) allows simultaneos analysis of several candidate genes, which facilitates the diagnostic procedure in NDM.Objective and hypotheses: To summarise our ...

Background: 80–85% of cases of congenital hypothyroidism (CH) are shown to be due to thyroid dysgenesis, while 15–20% are due to dyshormonogenesis. At least 12 candidate genes are associated with congenital hypothyroidism (CH), however its molecular basis is defined in fewer than 10% of the patients (ESPE consensus, 2014). Recent studies suggest that using a next generation sequencing (NGS) approach may increase the mutation yield in CH.Objecti...

Background: McCune–Albright Syndrome is a combination of polyostotic fibrous dysplasia (BFD), café’-au-lait skin pigmentation and hyperfunctioning endocrinopathies. It results from postzygotic mutations in a-subunit of the Gsalfa protein and the consequent phenotype is a mosaic with high degree of clinical variability.Objective and hypotheses: The aim of the study is determine prevalence and characteristics of GH hypersecretion (GHH) in MA...

Background: To date at least 30 genes are known to be associated with idiopathic hypogonadotropic hypogonadism (IHH). Analysis of all these gene candidates by Sanger sequencing would be expensive, labour-intensive and time-consuming. Recent introduction of next-generation sequencing (NGS) enables simultaneous analysis of multiple gene targets making it an attractive approach in such conditions as IHHObjective and hypotheses: To study the spectrum of mole...

Background: Autoimmune polyglandular syndrome type 1 (APS1) is a monogenic autoimmune disease caused by defects in autoimmune regulator gene (AIRE). The classic clinical triad is composed of Addison disease, hypoparathyroidism, and chronic mucocutaneous candidiasis, however other endocrine and non-endocrine features of APS1 may occur.Objective: To describe an unusual clinical manifestation of APS1.Methods: Congenital lipodystrophy ...

Background: Proopiomelanocortin (POMC) deficiency is characterised clinically by adrenal insufficiency, obesity and red hair. As a rule, such patients present early in life with severe hypoglycemia, which leads to initiation of glucocorticoid therapy. We describe here a case of POMC deficiency, where adrenal insufficiency was not diagnosed until the fourth year of life.Objective and hypotheses: To present a case of late diagnosis of POMC deficiency and c...

Background: Hypophosphatemic rickets (HR) comprises a group of inherited forms of rickets characterised by renal phosphate wasting. To date more than 10 genes are associated with HR, and a comprehensive molecular diagnosis in these disorders is technically difficult to perform.Objective and hypotheses: To assess the value of targeted next-generation sequencing (NGS) used for molecular analysis of candidate genes of HR.Method: 64 pa...

Background: Among the currently known variants of maturity-onset diabetes of the young (MODY) subtypes 1–3 are the most prevalent, while their relative frequencies vary in different populations. Other types of MODY are more rare, although the studies addressing their prevalences are limited. Recent implementation of next-generation sequencing (NGS) enables simultaneos analysis of multiple candidate genes making it an attracive approach in various monogenic disorders, incl...

Background: Paragangliomas are exceptionally rare neuroendocrine tumours for children and adolescents, located in an extraadrenal position and usually producing catecholamine.Case presentation: A 13.5-year-old girl with a known history of multiple exostosis disease was presented for investigation of two large nodal oval para-aortic lesions, which were incidentally found during abdominal ultrasonography. Medical history of the girl included non-autoimmune...

Background: According to the World Health Organization, the social determinants of health, the conditions in which people are born, grow, live and work – significantly influences on health. The CAF Foundation, the Endocrinology Scientific Center and the Institute for Family Health under the Alfa-Endo Program studied prevalence of some social determinants in families of children with type 1 diabetes mellitus.Objective and hypotheses: Investigate soci...