Abstract
BackgroundSomatotropinoma, a pituitary adenoma characterised by excessive production of growth hormone (GH), is extremely rare in childhood. A genetic defect is evident in some cases; known genetic changes include: multiple endocrine neoplasia type 1 (MEN1); Carney complex; McCune-Albright syndrome; and, more recently identified, aryl hydrocarbon receptor-interacting protein (AIP). We describe seven children with somatotropinoma with a special focus on the differences between genetic and sporadic forms.MethodsSeven children who presented in our regional network between 1992 and 2008 were included in this retrospective analysis. First-type therapy was somatostatin (SMS) analogues or transsphenoidal surgery. Control was defined as when insulin-like growth factor-1 (IGF-1) levels were within the normal range for the patient's age at 6 months after therapy, associated with decreasing tumour volume.ResultsPatients were aged 5-17 years and the majority (n = 6) were male. Four patients had an identified genetic mutation (McCune-Albright syndrome: n = 1; MEN1: n = 1; AIP: n = 2); the remaining three cases were sporadic. Accelerated growth rate was reported as the first clinical sign in four patients. Five patients presented with macroadenoma; invasion was noted in four of them (sporadic: n = 1; genetic: n = 3). Six patients were treated with SMS analogues; normalisation of IGF-1 occurred in one patient who had a sporadic intrasellar macroadenoma. Multiple types of therapy were necessary in all patients with an identified genetic mutation (4 types: n = 1; 3 types: n = 2; 2 types: n = 1), whereas two of the three patients with sporadic somatotropinoma required only one type of therapy.ConclusionsThis is the first series that analyzes the therapeutic response of somatotropinoma in paediatric patients with identified genetic defects. We found that, in children, genetic somatotropinomas are more invasive than sporadic somatotropinomas. Furthermore, SMS analogues appear to be less effective for treating genetic somatotropinoma than sporadic somatotropinoma.
Highlights
Somatotropinoma, a pituitary adenoma characterised by excessive production of growth hormone (GH), is extremely rare in childhood
Transsphenoidal surgery was ineffective as first-type therapy, and insulin-like growth factor-1 (IGF-1) levels remained +2 standard deviation (SD) even after subsequent SMS analogues and radiotherapy. These findings suggest that SMS analogues have little efficacy in patients with genetic somatotropinoma and that, as reported in adults [4], hormonal control is more difficult to achieve in patients with genetic somatotropinomas than in patients with sporadic forms
In this small series of patients, genetic somatotropinomas were more invasive than sporadic somatotropinomas
Summary
Somatotropinoma, a pituitary adenoma characterised by excessive production of growth hormone (GH), is extremely rare in childhood. A genetic defect is evident in some cases; known genetic changes include: multiple endocrine neoplasia type 1 (MEN1); Carney complex; McCune-Albright syndrome; and, more recently identified, aryl hydrocarbon receptor-interacting protein (AIP). Mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) were identified in some patients with familial isolated pituitary adenoma (FIPA) [8,9]. Such mutations account for 15% of FIPA kindreds and are associated with somatotropinomas, prolactinomas, non-secreting adenomas and rare cases of Cushing disease [10]. The aim of this work was to analyse the clinical, biological, radiological and therapeutic aspects of these adenomas
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