hrp0084p1-160 | Miscelleaneous | ESPE2015

Septo-Optic Dysplasia Associated with Koolen-de Vries Syndrome: A Case Report

Aroyo Ani , Stoeva Iva , Stancheva Gergana , Koleva Reni , Kaneva Radka

Background: Septo-optic dysplasia (SOD) is a rare congenital anomaly, clinically heterogeneous, combining optic nerve and pituitary gland hypoplasia, midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. The diagnosis is made when two or more features of the classic triad are present. HESX1, SOX2, SOX3, FGF8, FGFR1, PROKR1, SHH, are implicated in the etiology of SOD.Objective and hypotheses: Description of a ...

hrp0084p3-1099 | Pituitary | ESPE2015

Isolated GH Deficiency (IGHD) Associated with 7q11.23 Duplication Syndrome: a Case Report

Aroyo Ani , Stoeva Iva , Stancheva Gergana , Avdshieva Daniela , Kaneva Radka

Background: Congenital pituitary hormone deficiency is etiologically heterogeneous and occurs in 1:4000 live births. Of those, isolated GH deficiency (IGHD) is the most common, followed by combined pituitary hormone deficiency with or without extrapituitary anomalies.Objective and hypotheses: Description of a patient with IGHD, associated with multiple additional organ anomalies.Method: Case report, Sequencing of HESX1, SOX2</e...