ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2017) 50 EP077 | DOI: 10.1530/endoabs.50.EP077

AIP mutation causing familial pituitary tumours

Ruth Cordiner, Frances McManus, Kate Hughes, Maurizio Panarelli, James Boyle, Russell Drummond & David Carty


Department of Diabetes and Endocrinology, Glasgow Royal Infirmary, Glasgow, UK.


Familial isolated pituitary adenoma (FIPA) is an increasingly recognised cause of familial pituitary tumours with autosomal dominant inheritance. An increased population risk of AIP mutations has recently been reported in Ireland. We present the cases of three siblings, with likely AIP related disease, attending endocrinology clinics in Glasgow. Patient one has been confirmed to be an AIP mutation carrier.

Patient 1 was referred in 2006, aged 46. She has a history of anxiety, and presented with galactorrhoea and secondary amenorrhoea. Prolactin was 4400 mIU/l and remained elevated after withdrawal of risperidone. Pituitary function was otherwise normal. MRI showed a 9 mm microadenoma, and treatment with cabergoline was initiated. Her compliance with treatment has been intermittent, and claustrophobia has made further imaging intolerable.

Patient 2 also has a history of anxiety. She was referred in 2008, aged 44, with secondary amenorrhoea and prolactin 3000 mIU/l. Remaining pituitary function was normal. She was unable to tolerate MRI, but CT has shown an 8 mm lesion. Imaging and prolactin levels have remained static despite treatment with cabergoline 2 g/week.

Patient 3 was referred in 2012, aged 47, from his optician with bitemporal hemianopia. Initial bloods demonstrated panhypopituitarism with prolactin of 199,490 mIU/l. MRI revealed a giant macroadenoma with suprasellar extension and secondary hydrocephalus. He was transferred to neurosurgery, but was managed medically. He remains on cabergoline 2 g weekly and full pituitary hormone replacement, imaging has shown a substantial reduction in tumour bulk.

Patient 1 has tested positive for the AIP mutation. The family have since been referred to genetics for screening and counselling. These cases demonstrate the importance of obtaining an accurate family history. Current data support the testing of AIP mutations in patients presenting with pituitary tumours at a young age, or with a family history of pituitary disease.

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