Endocrine Abstracts

Case Presentation: A 41year old female with a medical history significant for depression presented to the clinic for evaluation of bilateral nipple discharge for 5 months. The patient reported that for the last 5 months she started noticing expressible nipple discharge. She reported no associated headaches, vision changes. She denies the use of vitamins, supplements, herbal remedies. No associated fatigue, changes in the shoe/ring size, heat/cold intolerance, tremors, recent weight changes. She denies neck enlargement, neck pain, dysphagia. The patient reported her menstrual cycles are always been heavy, irregular (every 33-50 days). She was never pregnant and not on any contraceptives. She has been on Sertraline for the last 4 years with no recent dose changes. Family history was significant for Birt-Hogg-Dubé Syndrome (BHD) in Father, brother, and sister.

Investigations: Initial labs showed Hb 13.3g/dl(11.1-15.9g/dl), WBC 6.8x10 3/UL( 4-11 x 10 3/UL), Platelet 218x 10 3/UL (150-450 103/UL). Comprehensive Metabolic Panel is within limits. Hormonal analysis revealed TSH 1.180uiu/ml (0.45-4.5uiu/ml), Free T4 1.15ng/dl(0.82- 1.77ng/dl), T3 91(71-180ng/dl), FSH 3.8mIU/ml, LH 3.7 mIU/ml, IGF-1 83ng/mL(74-239ng/mL) Prolactin 107ng/ml (4.79-23.3ng/dl), Monomeric prolactin 75.7ng/ml, macroprolactin percent 23%, Serum Estradiol 16pg/ml. HbA1C 5.6%94.8-5.6%), Serum AM Cortisol 6.5 mg/dl (6.2-19.4 mg/dl). The urine Pregnancy test was negative. Given low normal AM cortisol, a Cosyntropin stimulation test was done, which was normal. MRI Pituitary with contrast showed flattening of pituitary contour compatible with a partially empty Sella turcica and an 8mm fat intensity in hypothalamic region compatible with a lipoma, stable since last 4years. The patient was referred to neurosurgery for further evaluation. The patient currently remained asymptomatic and medical therapy is not indicated as she doesn’t have plans of pregnancy. Genetic testing for BHD was discussed. The patient will be followed in the clinic with a follow-up of prolactin levels.

Conclusion: Intracranial lipomas are rare and mostly asymptomatic. Our case demonstrates a rare presentation of hypothalamic lipoma in a patient with family history of BHD causing hyperprolactinemia probably resulting from compression of dopaminergic neurons of the hypothalamus. BHD is an autosomal dominant condition presenting with multiple benign skin tumors like lipoma, fibrofolliculomas, lung cysts, kidney lesions, etc. To our knowledge, intracranial lipomas have not been reported in patients with this syndrome. Further genetic analysis in our case may link the possible presentation of intracranial lipomas in BHD syndrome.