ESPE Abstracts

The pathogenesis of altered bone metabolism leading to bone mass loss and fractures in patients with cystic fibrosis (CF) is complex, and can involve malnutrition, malabsorption, lack of physical activity, vitamin D and K insufficiency, systemic inflammation, respiratory failure, liver disease, hypogonadism, and treatment with glucocorticosteroids. Many studies reported osteopenia, osteoporosis and fractures in adults with CF, with bone loss starting at an earlier age than in ...

Background: Dominant mutations in ABCC8 can cause congenital hyperinsulinism (CHI), which is characterised by unregulated insulin secretion.Objective and hypotheses: To understand the molecular basis of medically unresponsive CHI due to dominant ABCC8 mutations.Method: We investigated ten patients with diazoxide unresponsive CHI who required a near total pancreatectomy. DNA sequencing revealed seven dominant heter...

Background: Long-acting somatostatin analogues have been reported to be an effective treatment option to prevent severe hypoglycaemia in children with severe diffuse congenital hyperinsulinism (CHI). Possible side effects include gallstones, growth retardation and necrotizing enterocolitis (NEC), the latter occurring in particular cases of newborns treated with octreotide. So far only short-acting octreotide is being used in early infancy, requiring multiple injections daily o...

Background: The recent evidence has shown that the skeleton can in turn affect carbohydrate metabolism.Objective and hypotheses: To analyse associations between serum level of sclerostin and as well other bone-related molecules as adipokines and some markers of glucose and lipid metabolism in children and adolescents.Method: 57 patients, 40 with type 1 diabetes mellitus (T1DM), 17 with obesity, and 11 control, healthy age- and BMI-...

Background: The 12q14.3q15 microdeletion syndrome is a rare entity of which only 16 new cases have been described to date. The syndrome consists of the association of severe pre- and postnatal growth retardation, proportional short stature, psychomotor retardation and osteopoikilosis. The phenotypic appearance of these patients poses a differential diagnosis with Silver-Russell syndrome, among other entities.Clinical description: A 10-month-old boy was r...

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

Background: Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED), is a rare inherited disease of childhood, caused by the mutation of the AIRE gene on chromosome 21. It is characterized by three main diseases: chronic mucocutaneous candidiasis (CMC), chronic hypoparathyroidism (HP), and Addison’s disease (AD), and can be associated with other autoimmune diseases and/or manifestations of ectodermal dystrophy.Case...

Background: Diabetes mellitus is not characteristic of Beckwith Wiedeman Syndrome (BWS). If anything, BWS is associated with hypoglycaemia secondary to hyperinsulinaemia. A case of permanent neonatal diabetes mellitus and BWS have never been reported from our setting.Objective and hypotheses: To report on a 17 years old boy with BWS diagnosed with permanent neonatal diabetes mellitus at 4 months of age and to determine the molecular genetics study which ...

Background: Recent years bring a lot of data of the important role of vitamin D in different physiological processes, including a prevention from pathological states.Objective and hypotheses: The aim of the study was to analyze associations between serum level of vitamin D and some markers of glucose and lipid metabolism but also as well bone-related molecules as adipokines and in children and adolescents.Method: 57 patients, 40 wi...

Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and children. In the past 20+ years there have been tremendous advances in the understanding of the molecular genetics of HI, including the discovery of the mechanisms responsible for a focal form of the disease that can cured surgically. However, treatment options for non-focal HI continue to be limited, with only one drug currently approved for this indication. As a result of delay...