Session: OR42-Cushing's Disease & Non-Functioning Hypothalamic-Pituitary Tumours
Room 102 (Moscone Center)
The AIP gene was analysed in FIPA patients and in young (<30y) sporadic pituitary adenoma patients. The pathogenicity of the detected AIP variants was assessed using in silico prediction programs, as well as considering available data in the scientific literature. Available relatives of AIPmut patients were genetically tested and carriers were clinically screened.
Out of 189 FIPA families, 16.9% (32 families including 96 patients, 104 carriers and 114 at risk subjects with no mutations) carried 17 different AIP mutations. Out of 329 young patients without family history, 9.7% (32 patients, 14 carriers and 11 at risk non-carriers) were identified with 18 different AIP mutations. Out of the 29 mutations 72.4% lead to a truncated or missing protein.
The age of diagnosis was 25.3±12 years [6-62] for familial and 22.1±6 [10-40] for simplex cases. While the simplex cases presented the previously reported predominance of males (64.5% of cases), the gender distribution was more balanced in the familial cases (56.6% of males). The clinical diagnosis corresponded to GH excess (+/- other hormone excesses) in 73.7% of familial and 100% of simplex cases, with a remarkable prevalence of gigantism (39.7% of all AIPmut cases). One fifth of the cases showed plurihormonal and one quarter GH/PRL staining. Three phenocopies were identified in the FIPA families (2 microprolactinomas and one non-functioning pituitary adenoma).
Pituitary apoplexy was diagnosed in 10.1% of familial and 6.25% of simplex cases, noteworthy for a young and somatotropinoma-predominant population.
The clinical screening of AIPmut family members identified 14 cases with pituitary abnormalities representing 24.6% of the 57 studied (hormones/MRI) carriers (age at screening 32.6±18.3yr [1-72]). Five of these prospectively diagnosed patients (4 with large somatotropinomas) have already been operated.
In conclusion, clinical screening of AIP mutation carriers has successfully identified patients with previously not recognised pituitary adenomas leading to earlier treatment. The description of the clinical characteristics of this rare disease has been successfully achieved by world-wide collaboration.
Nothing to Disclose: LCH, PG, JD, GT, SAA, AG, MRG, MK, TI
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