ESPE Abstracts

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. Precocious puberty is a rare finding among patients with SOD.

Materials: We present evaluation of SOD in two girls, at the moment aged 10.5 and 13, suffering from blindness caused by bilateral optic nerve hypoplasia and developmental delay. In both cases MRI revealed lack of septum pellucidum. Younger girl was prenatally diagnosed with midbrain arachnoid cyst requiring surgery at the age of 2 years. Both patients had hiperbilirubinemia and hypernatremia in neonatal period and infancy. Symptoms subsided once treatment of central hypothyroidism and diabetes inspidus was introduced. Endocrine evaluation excluded ACTH insufficiency. Since the first year of their life obesity, tall stature and accelerated bone age were observed despite of growth hormone deficiency. At the age of 5 years both patients presented with thelarche, at 5.5 and 8 years respectively premature menarche appeared. Central precocious puberty was diagnosed in both girls. The diagnosis was based on laboratory evidence of pubertal levels of gonadotropins in LHRH test, high levels of estradiol and accelerated bone age. Regarding rapid progression of puberty that occurred in younger patient long acting GnRH analog therapy was applied. The above treatment was withdrawn within less than 6 months because of recurrent urticaria.

Conclusion: In most cases SOD is associated with multiple pituitary hormone deficiency, including gonadotropins. This report implicates the necessity for long-term monitoring as pituitary insufficiency may evolve over time and does not rule out precocious puberty.