hrp0084p1-81 | Growth Hormone | ESPE2015

The Growth Response to Growth Hormone Treatment is Greater in Patients with SHOX Enhancer Deletions Compared to SHOX Defects

Donze Stephany , Meijer Caroline , Kant Sarina , Zandwijken Gladys , van der Hout Annemieke , van Spaendonk Resie , van den Ouweland Ans , Wit Jan Maarten , Losekoot Monique , Oostdijk Wilma

Background: Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency, SHI) is a registered indication for growth hormone (GH) treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplications of SHOX or its enhancer (SDUP) can cause short stature.Objective and hypotheses: To describe the clinical characterist...

hrp0089p2-p310 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Can Basal Levels of Luteinizing Hormone (LH) Replace the GnRH Test in the Diagnosis of Precocious Puberty in Girls?

Llano Juan , Morales William , Pineda Catherine , Ortiz Teresa , Gil Nayibe , Laverde Gladys , Castro Sonia , Llano Mauricio

Aim: To determine the sensitivity, specificity of basal LH measurement compared to the GnRH test in patients with Central precocious puberty (CPP) and determine the cut off point for basal LH to diagnose CPP.Methods: 680 female patients were referred for presumptive diagnosis of central precocious puberty in the city of Bogota. All patients went through a GnRH test, using a Roche immunoassay for Luteinizing hormone (LH) and follicle stimulating hormone (...

hrp0084p1-106 | Perinatal | ESPE2015

Influence of Nocturnal Glycaemia on Ventricular Repolarisation and Heart Rate Variability in Prepubertal Children with Type 1 Diabetes

Saade Marie-Beatrice , Pecquet Aurelien , Pladys Patrick , Beuchee Alain , Pele Fabienne , Nivot Sylvie , de Kerdanet Marc

Background: ‘Dead in Bed syndrome’ mechanism in childhood diabetes remains unknown. The hypothesis is that a nocturnal hypoglycaemia could lead to arrhythmias related to abnormal ventricular repolarisation.Objective and hypotheses: To look for a relationship between spontaneous fluctuations of nocturnal glycaemia, ventricular repolarization and heart rate variability (HRV) in prepubertal children with type 1 diabetes.Meth...