hrp0082p3-d2-991 | Thyroid (1) | ESPE2014

Missed Cases of Congenital Hypothyroidism Detected By Screening Program in Central Serbia (1983–2014)

Todorovic Sladjana , Milenkovic Tatjana , Zdravkovic Dragan , Mitrovic Katarina , Vukovic Rade

Background: There are a lot of reasons for missing the diagnosis in neonatal screening for congenital hypothyroidism (CH), but errors in processing samples and reporting results are the most frequent! In Central Serbia screening for CH was instituted in 1983 by determination of the TSH level in dried filter-paper blood spots. All samples are analyzed at one central laboratory. The average number of specimens that are annually screened is 50 000. The screening process was divid...

hrp0082p2-d3-439 | Growth Hormone (2) | ESPE2014

GH Dosing Patterns in Short Children Born Small for Gestational Age

Petit Isabelle Oliver , Blankenstein Oliver , Zdravkovic Dragan , Tonnes Pedersen Birgitte , Pournara Effie

Introduction: In Europe, GH is approved for short (height SDS <−2.5) children born small for gestational age (SGA) who fail to show catch-up growth by 4 years of age.Methods: This report analysed the patterns of GH dose used in everyday clinical practice based on short children born SGA enrolled in NordiNet® IOS, an observational study evaluating the long-term effectiveness and safety of Norditropin®. Average GH ...

hrp0084p3-602 | Adrenals | ESPE2015

The First Case of Primary Generalized Glucocorticoid Resistance in Serbia in an 8-Year-Old Boy with G679S Mutation of the NR3C1 Gene

Mitrovic Katarina , Vukovic Rade , Milenkovic Tatjana , Todorovic Sladjana , Plavsic Ljiljana , Zdravkovic Dragan

Background: Primary generalized glucocorticoid resistance (PGGR) is a rare genetic condition characterised by generalised, partial target-tissue insensitivity to glucocorticoids owing to inactivating mutations of the NR3C1 gene.Case presentation: An 8.5-year-old boy was hospitalized because of precocious puberty and arterial hypertension. Over the last year, the appearance of pubic hair and gynecomastia were noted. At the local centre, high leve...