ESPE Abstracts

Septo-optic dysplasia (SOD) is characterized by optic nerve hypoplasia, hypothalamic-pituitary axis dysfunction and brain’s midline structures defects. His clinical features are heterogeneous. They consist mainly in visual impairments, endocrine dysfunction, cognitive and neurological abnormalities. We present a patient of 6 years old, affected by SOD, central diabetes insipidus, central hypothyroidism and growth hormone deficiency (GHD). She was born at 40+2 gestational weeks. Birth weight of 3575g. Corpus callosum hypoplasia and focal cortical development anomalies were detected by fetal morphological ultrasound and fetal MRI. Karyotype and CGH-array were normal. The day after birth she presented cyanosis and convulsive seizure in hypoglycemia. Other midline alterations were observed through MRI at 1 month of life: hypoplasia of optic chiasm and optic tracts, anterior pituitary and pituitary stalk hypoplasia, neurohypophysis not recognizable. Later an NGS panel related to septo-optic dysplasia was made and resulted negative. Diabetes insipidus was diagnosed at the age of 6 months and she started therapy with desmopressin. Between three and four years of age, she had seizures twice: one episode was triggered by fasting. The patient was admitted to our hospital for the first time at 4 years and 8 months of age. She was 19.1 kg [+0.5 standard deviation score (SDS)], 105.6 cm (-0.4 SDS) and 18.45 Kg/mq (+1.13 SDS). Central hypothyroidism was detected and a substitution therapy started. ACTH test at low doses was performed and showed an adequate adrenal response to the stimulus, although the presence of low plasmatic cortisol level. Persistently low IGF1 values were found. Due to what described, we decided to perform a GH testing, despite a growth velocity of 9 cm/y (+ 2.4 SDS) at the age of 5. A diagnosis of GHD was made:

Taking into account the known correlation between SOD and multiple pituitary defects, the clinical and radiological features of our patient, the history of hypoglycemia and the insufficient IGF1 levels related to age and weight, we decided to start GH replacement therapy, even though the presence of adequate height and height velocity for age. Our case represents an example of multiple pituitary hormone defect associated to SOD. We hope to continue our endocrinological follow-up in order to see the growth hormone’s response and whether will be a physiological start of puberty in our patient.