Abstract 108: A case of familial acromegaly

We present a 22-year-old female who complained of headache and coarsening of facial appearance over 3 years without any visual disturbance/galactorrhoea/menstrual disturbance. There was a similar history in her mother at 44 years of age who underwent surgery and radiotherapy. On examination she had clinical features suggestive of active acromegaly with unremarkable systemic examination. Biochemistry revealed high IGF-1 (891 ng/ml), non suppressed post glucose load GH (19.3 ng/ml) without other pituitary hormone deficits. MRI Sella showed sellar suprasellar lesion suggestive of pituitary macroadenoma with chiasmal compression. In view of strong family history, a clinical exome sequencing was done which showed a heterozygous nonsense variation in exon 6 of the AIP gene (chr11:g.67490910C>T).