ESPE Abstracts

Female, 7-year-old, presented with a 6-months history of headaches and right ptosis, with a sudden worsening associated with projectile vomiting. Height 141 cm (2.67 SDS), weight 44.35 kg (1.98 SDS). She presented with enlarged hands and feet, diastema, broad nasal bridge, prominent nasal septum, low-set ears and coarse facial features. Brain MRI revealed a 22 × 25 × 40 mm pituitary mass with a suprasellar extension compressing the optic chiasm and invading the cavernous sinuses (CS). Basal levels of GH and PRL were 45 ng/ml and 2 ng/ml, respectively. All other pituitary functions were normal. Cardiologic evaluation showed normal ventricular structure and function. Abdominal and thyroid ultrasound was normal and bone age corresponded with chronological age. The patient underwent trans-sphenoidal surgery with subtotal excision of the tumor, although complete resection was not possible due to CS invasion. Histopathology showed a sparsely granulated somatotropinoma with areas of hemorrhage, suggestive of apoplexy. The cells were immunoreactive for GH. Genetic testing identified a novel heterozygous variant in the AIP gene, classified as a variant of uncertain significance. There was no known family history of pituitary adenoma or gigantism, and family members were well. Post-operative MRI follow up at 6 and 12 months showed stability of residual tumor in the right CS. One year after surgical treatment, biochemical assessment revealed persistent high values in serum GH (36,7 ng/ml – nv 0,0 - 4,7 ng/ml) and IGF1 (500 ug/L, nv 65-225 ug/L) profile. An octreotide suppression test (100mcg subcutaneous) showed a decrease >50% from basal of GH levels, suggesting possible sensitivity to somatostatin-receptor-analog therapy. Treatment with subcutaneous Lanreotide (60 mg/28 days) was started, but after 3 months GH and IGF-1 values further increased; insulin resistance and high blood glucose level were found. Despite MRI findings remained unchanged, the patient suffered from worsening headaches, unresponsive to steroid therapy. Thus, after first line medical therapy failure, Lanreotide was substituted by second line therapy with Cabergoline. Gamma knife stereotactic radiosurgery was planned. GH-secreting adenomas are rare in pediatric age, and therapeutic management is not simple. Treatment goals are to reduce GH and IGF1 values and to mitigate their effects on growth. In case of invasive tumors with infiltration of the CS, as we report in our patient, the persistence of headache can be a disabling symptom that clinitians should be aware of. Further studies are necessary to better define pediatric response to medical treatment.