Endocrine Abstracts

JOINT1357

Objective: Hereditary forms of primary hyperparathyroidism (PHPT) are much less common and often challenging the clinicians especially when active screening and genetic testing are lacking.

Methods: We report 4 members of a MEN 1 family identified from a Romanian cohort of 271 PHPT patients from a tertiary endocrinology center (4,5% had familial forms). Familial syndrome confirmation came after active screening despite longstanding history of PHPT and other associated endocrine tumors that were managed by different doctors never rising suspicion, along with low patient compliance. Case 1: 44 years old man (proband), with history of recurrent nephrolithiasis since age 26, PHPT first diagnosed at age 38 with total thyroidectomy and 2 glands parathyroidectomy (PTX), acromegaly (GH+PRL pituitary macroadenoma) at age 43, bilateral adrenal tumors with left adrenalectomy for Cushing syndrome at age 44 (8/5,8 cm); persistent mild HPTH, pancreatic tumors (gastrinemia 5900 pg/ml), right stable adrenal tumor (3/2 cm) at age 48; he denied surgeries, was frequently lost to follow-up and eventually died from right metastatic adrenocortical carcinoma (ACC). Case 2: 41 years old brother, diagnosed with PHPT multiglandular disease (hypercalcemia since age 37; range 11,2-12,4 mg/dl, no nephrolithiasis), biochemically cured by 3 glands and ½ PTX. Other tumoral findings: non-functional pituitary macroadenoma with hypogonadotropic hypogonadism, gastrinoma with Zollinger-Ellison syndrome (gastrinemia 56.050 pg/ml, medically controlled), multiple non-functional pancreatic tumors, bilateral non-functional adrenal tumors. Case 3: 72 years old father diagnosed with PHPT multiglandular disease (history of nephrolithiasis since age 30, PHPT with right inferior PTX at age 43, persistence of hypercalcemia since age 51 (range 10-12,5 mg/dl), bisphosphonates treated osteoporosis since age 70, persistent PHPT confirmation at age 72. PTX (2 and ½ glands) with auto transplant was performed. Other tumoral findings: pituitary incidentaloma, pancreatic non-functional uncinate tumor (2,3 cm), bilateral non-functional adrenal tumors, subcutanuous lipomas. Case 4: 20 years old daughter of case 2, was identified by screening with prolactinoma at age 9 and PHPT at age 19.

Discussion: HPTH persistence was the rule in this family with late MEN 1 diagnosis (decades). Clinical and hormonal screening was rewarding as the proband’s brother and his daughter were diagnosed and treated adequately. Bilateral adrenal tumours were seen in 3 cases; Cushing syndrome and ACC are rare events in MEN 1.

Conclusions: Clinical and hormonal screening is fast and accessible allowing early diagnosis and adequate management of the patients and the other family members, even when genetics is not available.