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Familial pituitary apoplexy as the only presentation of a novel AIP mutation

Year: 2013

Type: article

Abstract: Familial pituitary apoplexy as the only presentation of a novel AIP mutation Dear EditorGrowth hormone (GH)-producing tumors in AIP mutation-positive patients are typically more aggressive than their sporadic counterparts.They are also frequently associated with onset in childhood and adolescence and appear to be less responsive to medical therapy (Beckers et al. 2013).A male predominance has been observed (Daly et al. 2010).We report on a unique clinical presentation of a kindred with a novel AIP mutation: only one of the three affected members had all the typical signs and symptoms of patients with an AIP mutation.On the contrary, the carrier father and brother had both partially empty sella turcica and, in fact, the latter ended being treated for anterior pituitary lobe hormonal deficiencies, including GH.This was presumably the result of pituitary apoplexy due to a rapidly growing AIP-induced adenoma.Briefly, a 12 years 2 month-old boy was seen for tall stature and accelerated growth velocity that was first noticed at the age of 4 years.At initial presentation, his height was 186.6 cm (z-score C4.72), over the calculated mid-parental height (180.5G4.5 cm), and his weight was 78.7 kg (z-score C2.59).He was also macrocephalic and he had several facial characteristics typical of gigantism.Hormonal investigation showed increased IGF1: 906 ng/ml (nv: 183-850) and GH: 18.3 ng/ml that did not suppress to oral glucose tolerance test (OGTT).The rest of pituitary hormones were in the lower normal range (Supplementary Table 1, see section on supplementary data given at the end of this article).Pituitary MRI showed the presence of a 1.3!1.2!1.1 cm pituitary adenoma with suprasellar extension (Fig. 1A).He underwent partial resection of the pituitary adenoma.The surgical pathology evaluation confirmed the presence of a GH-positive, sparsely granulated tumor with globules of keratin (fibrous bodies) and lack of normal reticulin framework (Fig. 2A, B, C, and D).Areas of expanded acini clearly distinctive from the adenoma were detected suggestive of hyperplasia (Fig. 2E and F).Both parents had normal heights and no history of acromegaly.

Source: Endocrine Related Cancer

DOI: 10.1530/erc-13-0218