ESPE Abstracts

Background/aim: Sorafenib® is a multi-kinase inhibitor and one of the few systemic treatment options for patients with advanced hepatocellular carcinomas (HCCs). Resistance to Sorafenib® develops frequently and could be mediated by the NAD dependent deacetylase sirtuin (SIRT) 1, a master regulator of cellular energy metabolism and stress responses. We aimed to find out if Sorafenib® treatment depends on changes in cellular NAD le...

Background: Klinefelter syndrome (KS) is associated with an increased metabolic and cardiovascular risk profile1,2 and a metabolic syndrome is evident at a prepubertal age in 10% of the affected boys. Boys with KS tend to avoid competitive sports and describe themselves as ‘not good at sports’. Cardiopulmonary fitness in adults with KS has been found to be compromised by chronotropic insufficiency (CI) and a reduced maximal oxygen uptake...

Human growth results from an increase in cell size, cell division and amount of interstitium and is determined by the complex interplay of genetic and environmental factors. Over the last 14 years our group has been studying growth through the genetic interrogation of rare individuals presenting with syndromic overgrowth defined as an increased height and/or head circumference, compared to the age-related peer group, in combination with an intellectual disability. In the years...

Background: T1DM may influence growth and pubertal development and vice versa. Delayed pubertal development and reduced final height are known to be associated with inadequate metabolic control. Many factors including insulin resistance during puberty and insufficient adherence may be responsible for increasing HbA1c.Objective: Is pubertal growth spurt associated with an increase of HbA1c? Are there gender differences in metabolic control during...

Introduction: Prader-Willi Syndrome (PWS) is a complex genetic condition associated with feeding difficulties, hypotonia, developmental delay in infancy; hyperphagia leading to extreme obesity, growth failure and behavioral problems in childhood. Coeliac disease (CD), is an autoimmune disease characterized by gluten intolerance and a variety of symptoms most commonly diarrhea or constipation and failure to thrive. In PWS the challenge is to optimize growth while avoiding obesi...

Background: Anti-Müllerian hormone (AMH) inhibits the in utero growth of the Müllerian structures in female fetuses. In neonates with suspected disorders of sexual development (DSDs), the presence of testicular tissues and functioning Sertoli cells can be investigated by testing for serum AMH concentration.Objective: To evaluate the performance of two new AMH assays in a hospital laboratory.Method: The technical performan...

Background: A reduced reproductive lifespan is one of the most significant implications for girls with Turner syndrome (TS) and is due to an accelerated loss of ovarian insufficiency. Lately, there has been a surge in scientific research aimed at whether ovarian tissue cryopreservation (OTC) is a viable option for fertility preservation in girls with TS. This required a unilateral ovariectomy for girls with TS who may already have a poor ovarian reserve.<p...

Introduction: Maturity-Onset Diabetes of the Young (MODY) represents the most frequent form of monogenic diabetes. Genetic testing of Czech patients with clinical suspicion on MODY began 22 years ago. Aim of the study was to describe the prevalence of MODY subtypes among referred probands with diabetes and to define their clinical characteristics and possible differences.Methods: Clinical criteria for genetic testing of ...

Background: Hypoglycaemia is the most common and threatening complication in diabetic children. Nocturnal hypoglycaemia is mostly unrecognised and asymptomatic, but recurrent mild hypoglycaemia at night can lead to hypoglycaemia unawareness and reduced performance at daytime.Aims: To evaluate frequency and duration of nocturnal hypoglycaemia in type 1 diabetic children and to identify risk factors for such events.Patients/methods: ...

Aim: To identify factors affecting compliance to treatment with recombinant growth hormone (rhGH) in children with growth hormone deficiency (GHD).Study population and Methods: The following data were collected during standard visits in 8 endocrine clinics in Poland: medical history, auxological measurements, laboratory tests and the numbers of empty and full rhGH ampoules dispensed and returned by the patients. The obse...