ESPE Abstracts

Background: In addition to its function in circadian rhythm Melatonin plays an important role in energy metabolism and body weight regulation. In animals pinealectomy induces insulin resistance and administration of melatonin to diabetes prone rats ameliorates their glucose metabolism. Furthermore loss-of-function mutations of the melatonin receptor gene are associated with insulin resistance and DM II in humans.Objective and hypotheses: So far the effec...

Background: The post-authorisation registry, European Increlex® (mecasermin (rDNA origin) injection) Growth European Increlex Growth Forum Database (EU-IGFD), initiated in December 2008, collects safety and efficacy data in children receiving Increlex® for growth failure. Hypoglycaemia has been reported as a common adverse event (AE) during any IGF1 replacement therapy in randomised clinical trials, and is therefore of interest in real-life sett...

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: In congenital hyperinsulinism (CHI) 18F-DOPA PET CT plays an essential role in differentiating between focal and diffuse CHI forms and in the analysis of the localization of a potential focus before surgery.Objective and hypotheses: The aim of this retrospective analysis was the evaluation of the 18F-DOPA PET CT efficacy in a large cohort of CHI patients.Method: In the last few years 193 18</s...

Background: Cholestatic hepatopathy is a rare but serious threat to neonates and young infants. Their immature hepatic excretory function predisposes for severe and rapidly progressive hepatic injury. Because of the wide range of possible etiologies, it is often difficult to make an accurate diagnosis. One rare endocrine cause can be primary or secondary hypocortisolism.Case presentation: i) A 7-week-old term-born female with cholestasis, elevated liver ...

Background: Copeptin is secreted in isomolar amounts along with arginine vasopressin peptide from the posterior pituitary. Its stability makes it a perfect candidate for the endocrine approach in the diagnosis of AVP deficiency. Arginine-stimulated copeptin is a possible alternative for the water deprivation test. We wondered whether basal and stimulated copeptin secretion is related to growth hormone secretion status or independent of it.<p class="abstext...

Magnetic resonance imaging (MRI) of the brain in disorders of sexual development (DSD) is still relatively scarce despite the opportunities it offers for understanding the influence of sex hormones on emotion and cognition. In this talk I will give an update on current structural and functional MRI research in different DSDs such as Klinefelter syndrome, Turner syndrome, Congenital Adrenal Hyperplasia, or Familial Male Precocious Puberty. Finally, parallels will be drawn to cu...

Background: Silver Russell syndrome (SRS) is characterized by low birth weight, severe postnatal short stature and distinctive facies. In ~50% of patients, (epi)genetic alterations can be detected (~40% hypomethylation of H19 on chromosome 11, ~10% maternal uniparental disomy (UPD) 7). As SRS patients are usually born small for gestational age (SGA), they are treated with GH to improve height. However, data on long-term effects of GH treatment in SRS patients are very limited....

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is worldwide the most common autosomal recessive disorder caused by defects in the CYP21A2 gene.Objective: The main objective of the study was to evaluate CAH in Cyprus over a 10 year period.Methods: All known patients were included in a population retrospective subset analysis of Cypriot patients with confirmed CAH and their clinica...

Introduction: Prohormone convertases are a family of proteins that mediate the processing and activation of peptide hormones and neuropeptide precursors. Homozygous mutations of the PCSK1 gene result in prohormone convertase 1 deficiency that is characterized by diarrhea, hypoglycemia, multiple pituitary hormone deficiency beginning from neonatal period and obesity beginning after infancy.Case: A 35-day-old boy was referred to our hospit...