hrp0086p1-p611 | Growth P1 | ESPE2016

IGFALS Gene Deletion in a Family with Short Stature

Haliloglu Belma , Losekoot Monique , Kaya Avni , Wit Jan-Marteen

Background: ALS deficiency is characterized by mild short stature, delayed puberty, low serum IGF1, low serum IGFBP3 and undetectable serum ALS levels.Case: A 11.3 years old boy presented with short stature. He was born at term to consanguineous parents and the birth weight was unknown. On physical examination, his height and weight were 130.5 cm (−2.33 SDS) and 25.2 kg (−2.36 SDS) and he was prepubertal. The routine laboratory tests were nor...

hrp0084p2-489 | Hypo | ESPE2015

The Effectiveness of Sirolimus in a Newborn with Hyperinsulinaemic Hypoglycaemia

Haliloglu Belma , Tuzun Heybet , Flanagan Sarah , Kaya Avni , Celik Muhittin

Background: Hyperinsulinaemic Hypoglycaemia (HH) is a rare genetic disease and the treatment of HH in cases with unresponsiveness to medical therapy is subtotal pancreatectomy. In a recent study, the authors showed that sirolimus could be an alternative treatment in these patients. We aimed to evaluate the effectiveness of sirolimus in a newborn with HH.Case: A 10 day-old neonate presented with hyperinsulinaemic hypoglycaemia (glucose: 26 mg/dl, insulin:...

hrp0084p3-1088 | Perinatal | ESPE2015

Leptin and Neuropeptide Y Levels in Newborns

Kaya Avni , Orbak Zerrin , Polat Ismail , Polat Harun , Gumusdere Musa

Background: Several studies have investigated leptin and NPY levels in children, but the information for newborns in the literature is limited.Objective and hypotheses: The aim of this study was to determine leptin and neuropeptide Y (NPY) levels in between 14 and 28-days newborns.Method: This prospective study was performed in the Erzurum Atatürk University Medical Faculty Research Hospital Neonatal Clinic, Turkey, between Ju...

hrp0084p3-1084 | Perinatal | ESPE2015

Plasma Kisspeptin Levels of Infants Breast Growth in Neonatal Period

Kaya Avni , Orbak Zerrin , Polat Harun , Cayir Atilla , Erdil Abdullah , Doneray Hakan

Background: The studies investigating kisspeptin levels in the neonatal period is very limited.Objective and hypotheses: This study was intended to investigate plasma kisspeptin hormone levels in newborns with or without breast growth.Method: This prospective study was performed to determine plasma hormone levels of kisspeptin in patients admitted to the Erzurum Ataturk University Faculty of Medicine Research and Educational Hospit...