ESPE Abstracts

Introduction: Fanconi-Bickel syndrome (FBS), is a rare autosomal recessive disorder of carbohydrate metabolism (FBS, OMIM 227810), caused by defects in the facilitative glucose transporter glut-2, which transports glucose in and out of hepatocytes, pancreatic β cells and basolateral membranes of intestinal and renal epithelial cells. Characteristic features include growth failure, hepatomegaly, glucose and galactose intolerance, fasting hypoglycemia, and renal tubular nep...

Background: Sea-blue histiocytosis is a morphological finding that can be associated both with acquired conditions of increased cellular turnover and inborn errors of lipid metabolism.Objective and hypotheses: To present a Chinese boy of hypertension and sea-blue histiocytosis secondary to Niemann–Pick disease type B.Methods: Diagnosis was confirmed by the bone marrow aspiration and the specific enzyme assay of leukocytes (def...

Background: It remains unclear whether specimen repeated freeze-thaw cycles can influence urinary lutenising hormone (LH) and follicular stimulating hormone (FSH) assayed by immunochemiluminometric assays (ICMA).Objective and hypotheses: To investigate the effect of specimen repeated freeze-thaw cycles on urinary LH and FSH determined by ICMA.Method: The first morning-voided urine was collected and divided two parts. One part was s...

Introduction: Patients with Floating-Harbor syndrome have broad spectrum of clinical presentation, but most of them have short stature, low birth weight, delayed bone age, delayed speech development, typical craniofacial features, anomaly of fingers and toes, cryptorchidism in males, renal anomalies, strabismus. Some of them are treated with growth hormone.Case report: 4 year old male patient with mutation in SRCAP gene Gln2622Ter/- with...

Background: The GATA family of zinc finger transcription factors including GATA4 and GATA6 are known to play an important role in the development of the pancreas.Aim: The aim of this case-report study is to present a patient with GATA6 mutation treated in Clinic of Pediatric, Diabetology and Endocrinology, Medical University of Gdansk.Case report: Child was born prematurely in 36th week of pregnancy with birth weight of 1520 g, wit...

Background: There are international guidelines on screening for Microalbuminuria (MA) in children with Type1 Diabetes Mellitus (T1DM). But the National Paediatric Diabetic Audit, UK suggests that screening is missed in over 50% of cases. Further, there is little data on the management and natural course of MA in children by frontline units.Objective and hypotheses: To describe the prevalence, management and natural course of MA in children and adolescent...

Background: Prenatal dexamethasone (DXM) treatment has been proposed to prevent genital virilization in girls with congenital adrenal hyperplasia (CAH), however its safety has been questioned for potential adverse effects on the foetus and the mother.Objective and hypotheses: To analyse clinical practice and prenatal treatment experience with DXM during pregnancy at risk of having her daughters with severe CAH.Method: An online sur...

Elevated chemerin level is observed in obese patients with metabolic syndrome and arterial hypertension but it is not known if measurement of this hormone have any prognostic value before the occurrence of clinically overt complications of obesity. The aim of the study was to investigate the relationship between serum chemerin level and 24h blood pressure monitoring (ABPM), and intima media thickness in obese children.Methods: The study ...

Introduction: Published studies on pubertal growth of SGA patients on GH therapy are scarce. An earlier and shorter duration of puberty has been described. Treatment optimization may be necessary and also know their influence on adult height.Objetives: Analyse the evolution of height durig puberty in SGA patients treated with GH. Asses the age of onset of puberty and its relationship to adult and target height.Methods: Retrospectiv...

Introduction: Turner syndrome is a relatively common chromosomal abnormality affecting 1:2000 girls. Virilization can occur in girls with Turner syndrome which is in most cases associated with the presence of an Y chromosome. Mosaicism is found in 25% of the karyotypes, in 6% of those the Y chromosome is present. This could lead to development of androgen producing gonadoblastoma/dysgerminoma. Active screening to search for Y chromosomal material is included i...