ECE2018 Poster Presentations: Pituitary and Neuroendocrinology Pituitary - Clinical (101 abstracts)
1C.I. Parhon National Institute of Endocrinology, Bucharest, Romania; 2Department of Endocrinology, C. Davila University of Medicine and Pharmacy, Bucharest, Romania.
Introduction: Pituitary adenomas (PAs) are rare in childhood and the transition period, can result from AIP/MEN1 mutations, are difficult to manage and severely impair quality-of-life.
Aim: To describe the clinical and genetic characteristics of patients with PA onset before 21 years old.
Patients and methods: Retrospective study (19802015). Clinical, imaging and hormonal data, AIP/MEN1 sequencing.
Results: We identified 49 patients (33 F/16 M), with onset age 18 (1519) years, median (25th75th percentile): 27 prolactinomas (5 micro, 20 macro, 2 giant adenomasn [>4 cm]; 3 clinical MEN1), 11 somatotropinomas (9 macro, 2 giant adenomas; 2 somatolactotropinomas; 2 patients with gigantism), 8 corticotropinomas (7 microadenomas), 2 nonfunctional PAs (NFPA, 1 mesoadenoma, 1 macroadenoma), 1 giant GH co-secreting, thyrotropinoma. From 34 patients tested, two (both with gigantism) had AIP mutations: c.940C>T (M-18yrs.), c.895dup (F-13yrs.). One patient with prolactinoma and primary hyperparathyroidism had a MEN1 mutation: c.1446delC. Therapy included Dopamine agonists (DA): 27 prolactinomas, 8 somatotropinomas, 2 corticotropinomas, 1 NFPA, 1 thyrotropinoma; Somatostatin analogues: 11 somatotropinomas and 1 thyrotropinoma; Pegvisomant: 5 somatotropinomas; pituitary surgery: 10 somatotropinomas, 6 corticotropinomas, 1 NFPA, 1 thyrotropinoma; radiotherapy: 8 somatotropinomas, 3 corticotropinomas, 8 prolactinomas, 1 NFPA, 1 thyrotropinoma; Temozolomide: 2 giant PAs, multiply operated and irradiated (1 thyrotropinoma+1 DA-resistant prolactinoma). AIP mutations were associated with gigantism, giant adenomas (rsquare=0.59, P<0.01) and the absence of tumour growth control (rsquare=−0.39, P<0.05). The number of treatment agents per patient was 1 (12), for prolactinomas and 5 (36) for somatotropinomas. At the last follow-up visit, 7 (210.5) years after diagnosis, 33/47 (70.21%) functional PAs were controlled biochemically.
Conclusions: Results of therapy in patients with PA onset before 21 years are suboptimal, despite aggressive therapy. Somatotropinomas are particularly resistant, partly due to AIP mutations.