Endocrine Abstracts

Introduction: Short stature is a common reason for pediatric endocrine evaluation and it can have a variety of causes, including constitutional, genetic short stature, dysmorphic syndromes, chronic illnesses and also endocrine disorders. Growth hormone deficiency accounts for 8% of the cases and it can be isolated or associated with other pituitary hormones deficiencies, congenital or acquired, such as in central nervous system tumors.

Case report: A 15-year-old female patient presented to our department for growth deficit and primary amenorrhea. The mother reports normal psychomotor development and no significant medical history. The clinical examination revealed an underweight patient (percentile under 1%) with short stature (- 3.38 SD) and a prepubertal Tanner stage. A complete hormonal assay showed low GH and IGF-1 levels, with no GH response at the clonidine stimulation test. FSH, LF, estradiol and prolactin levels were also low. Cerebral MRI showed a solid, lobulated suprasellar mass of 2.8/2.7/4 cm, with well-defined outline and microcalcifications, hyperintense T2 signal and hypointense T1 signal, predominantly located in the third ventricle, in close contact with the circle of Willis. Tumoral markers and a lumbar spine punction were recommended to rule out a germ-cell tumor. The patient was referred to a neurosurgeon and underwent surgery with complete resection of the tumor, and histopathology and immunohistochemistry evaluation supporting the diagnosis of rosette-forming glioneuronal tumor. Postoperatively, the patient developed diabetes insipidus and central adrenal and thyroid insufficiency, with favorable evolution and recovery under substitution treatment.

Conclusions: Rosette-forming glioneuronal tumor is a very rare tumor, with about 100 cases reported in literature. It is a grade I neoplasm, with indolent evolution and a low recurrence rate following total resection. In our case, it presented with hormonal disturbances due to its size and unusual location. A multidisciplinary approach from an experienced team is absolutely necessary for an appropriate diagnosis, an effective treatment and long-term follow-up for this type of cases.