Background: Pituitary adenomas secreting GH rarely present in childhood. We report the clinical features, management and outcome of the 5 cases referred to a tertiary Paediatric Endocrine/Neurosurgical service over a 20-year period.
Patients: **4 Male:1 Female - all aged 15 years at referral. Tanner puberty stages G3-5; B3. Clinical follow-up data range 2 months 8 years.
Clinical features at presentation: Headache, n=4, Acromegalic features (skeletal/soft tissue) 4, Visual field (VF) defects 3, Gigantism (Males tall for parental Target limits; 196.5, 203, 189.4 cm) 3, arrested puberty 1, secondary amenorrhoea 1, café-au-lait macules 2, Acanthosis nigricans 1, galactorrhoea none.
Endocrine baselines: Serum IGF1 mild to markedly elevated(66148 nmol/l RR<66 nmol/l); nadir GH to oral glucose load 3-11 μg/l (n=3); random GH 9.7 and 115 μg/l in other patients. Elevated Prolactin n=2: 1570 mIU/l (with secondary amenorrhoea) and ~45,000 mIU/l (with arrested puberty). Anterior pituitary hormone deficiencies: ACTH 2, TSH 1, Gonadotrophins 2.
MRI imaging: Sellar/suprasellar macroadenomas range 17 to 58 mm maximum dimension. Three tumours showed cavernous sinus invasion at presentation.
Treatment modalities: Transsphenoidal tumour debulking n=5, Somatostatin anologue 4, Cabergoline 2, Cranial irradiation 4 (likely to become 5), Pegvisomant 1. Pituitary hormone replacement at last review (T4, hydrocortisone, sex steroids or DDAVP) n=3. Patient adherence with somatostatin analogue and Pegvisomant prevented full benefit in 2 cases.
Tumour histology: Somatomammotrophoma 3, somatotrophoma 2; Ki67 range 1 8%.
Family histories: No pituitary or other endocrine tumours known.
Genetics: One patient positive for heterozygous AIP mutation c.910C>Tp.Arg304Ter. No tests 3 patients; outstanding 1 patient (AIP / MEN1 GNAS). The two patients with café-au-lait macules had no other features of McCune-Albright syndrome, in particular there was no evidence of fibrous dysplasia or precocious puberty.
Conclusions: These rare patients present significant management issues, given their age at presentation, psychological and educational challenges in addition to the complex and long-term treatment strategies. Their care requires close collaboration between Paediatric and Adult Endocrine, Neurosurgical and Clinical Oncology Teams.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology