ESPE Abstracts

Introduction: Pituitary adenomas (PPAs) are uncommon in childhood and adolescence, accounting for 2-6% of all intracranial neoplasms. Most data are based on case reports and only a few series have been reported. Delayed puberty, short stature, galactorrhea and weight gain are common features at presentation in pediatric patients. Functional tumors constitute a vast majority (90%) of PPAs including corticotropinomas in the first decade followed by relative upsurge of prolactinomas and somatropinomas in the second.

Patients and Methods: A retrospective review of clinical features, hormonal status, pituitary imaging, management and outcome of 7 pediatric patients with pituitary macroadenomas are reported. We include PPAs in patients under 18 years at diagnosis with diameters larger than 10mm by magnetic resonance (MRI).

Results: Six patients were males (85%), age at diagnosis ranged from 8 to 15 (median 14+/-2.8DS). Symptoms that primarily led to medical attention were short stature (case 1,2), acromegaly (case 4,5), secondary amenorrhea (case 2), headache (case 6) and polydipsia/polyuria (case 7). At diagnosis three patients (case 1,3,7) presented signs and/or symptoms of endocrine dysfunction: delayed or arrested puberty (case 1,2,7) with galactorrhea (case 1) and short stature in two (case 1,3). Visual field was reduced in three cases (42%). Suprasellar extension was present in 3 subjects, in particular patient 5 had a giant adenoma. Adenomas were clinically functioning in 6 patients (85%). Cases 1-3 had prolactin levels elevated and were classified as prolactinomas. Cases 4-5 had elevated IGF-1 levels and were classified as somatropinomas. Case 6 had no elevated hormones and no deficiency, classified as non-functioning and case 7 had hormone deficiency with FSH elevated. Prolactinomas responded to treatment with cabergoline, case 4 required transphenoidal surgery and cases 5-7 surgery and radiotherapy. All patients undergoing radiotherapy have secondary panhypopituitarism. In relation to the genetic studies, two patients present a pathogenic mutation of the AIP gene, one of the MEN1, two are pending results and in two it has not been carried out.

Conclusions: Pediatric pituitary macroadenomas are a distinct entity, majority in males, with a predominance of functional tumors leading to detrimental effects on growth and puberty besides neuro-ophthalmological manifestations. It is important to perform genetic studies in patients with macroadenomas appearing under the age of 30 years as genetic and syndromic associations are more frequently seen. Once the genetic alteration has been identified, a better follow-up and treatment can be done together with a family study.