Abstract #1413664: A Case of Familial Isolated Pituitary Adenoma Emphasizing an Often-Overlooked Aspect of Medical History

Familial Isolated pituitary adenoma (FIPA) is a rare cause of and underscores the importance family history knowledge screening guidelines in these patients. A 26-year-old female presented with secondary amenorrhea, galactorrhea, headaches dizziness. Labs showed Prolactin 501 ng/ml (3.3-26.7 ng/mL) IGF 391 (96-301 ng/mL). MRI brain 12 x 14 15 mm mass. Acromegaly was confirmed glucose suppression test growth hormone (GH) lowering to 1.08 (< 0.8 ng/ml). Further revealed paternal cousin gigantism diagnosed at age 17. She underwent transsphenoidal resection which stained positive for GH prolactin. Post operative labs show improved levels: 31 ng/mL 317 Genetic evaluation pathogenic mutation AIP (aryl hydrocarbon receptor-interacting protein). 4 months later- 36.1 ng/mL), 209 0.1 (0.05-8.00 amenorrheic post surgery replacement therapy, regular menstrual cycles ensued. Surveillance consistently normal but prolactin levels were trending upwards. Prolactin: 80 repeat did not any adenoma. started on Cabergoline that helped normalization levels. FIPA hereditary disorder responsible less than 2% adenomas. Mutation seen 20% cases associated worse outcomes. The peak onset between 10-30 years age. Affected patients tend have larger tumors non-FIPA increases risk apoplexy. secretion most common; followed by prolactin, GH-Prolactin co-secretion, non-functional rarely TSH secreting. It has an autosomal dominant transmission incomplete penetrance often skipping generations making diagnosis even more challenging. Obtaining detailed patient essential uncovering inheritance pattern this disease. Screening recommended if are noted have- 1. secreting before 18 2. Pituitary macroadenoma (>10 mm) 30 3. Any one member First degree members need be tested mutation. Patients undergo as follows- Growth assessment signs symptoms function tests a. Age 4-30 years: annually b. 30-50 every 5 Prospective observational data shows genetic testing clinical leads early detection disease results interventions better This highlights recognition presenting kind