hrp0086p1-p742 | Pituitary and Neuroendocrinology P1 | ESPE2016

Precocious Puberty in Septo-Optic Dysplasia Syndrome – Presentation of 2 Cases

Malinowska Anna , Marczak Elzbieta , Rudzka-Kocjan Agnieszka , Szalecki Mieczyslaw

Background: Septo-optic dysplasia (SOD) is a rare, congenital condition that mostly occurs sporadically, but can also be caused by mutations in HESX1, OTX2, SOX2, SOX3 genes. Symptoms of SOD include: optic nerve hypoplasia, hypopituitarism and midline brain abnormalities such as absence of septum pellucidum and/or corpus callosum. Hypopituitarism in SOD usually manifests as growth hormone deficiency followed by central hypothyroidism as well as deficiency of gonadotropines. Pr...