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Bone and Mineral Metabolism

SUN-824 - Hereditary Primary Hyperparathyroidism in A Brazilian Tertiary Center: Insights into Delayed Diagnosis

Sunday, June 14, 2026
9:00 AM - 4:00 PM CT
Location: ENDOExpo; Poster Floor
Disclosure(s):
Monique Ohe, MD: No financial relationships to disclose


Introduction:
Primary hyperparathyroidism (PHPT) is characterized by hypercalcemia associated with elevated or inappropriately normal parathyroid hormone (PTH) levels. It is most commonly caused by a single parathyroid adenoma, but may also result from multiglandular disease or, rarely, parathyroid carcinoma. Approximately 5–10% of cases are related to hereditary or syndromic conditions. Early recognition of hereditary PHPT is essential, as it directly impacts diagnostic evaluation, surgical management, and family screening.

Objective:
To evaluate the clinical and laboratory characteristics of patients with suspected hereditary PHPT followed at a tertiary referral center.

Methods:
This observational study was based on a retrospective review of medical records from patients with PHPT and clinical suspicion of hereditary disease. Inclusion criteria were: PHPT associated with other endocrinopathies, positive family history of PHPT, confirmed genetic mutation, or diagnosis at ≤40 years of age. Data collected included demographic characteristics, biochemical profile, target organ involvement, bone mineral density, and associated endocrine disorders. Descriptive statistical analysis was performed.

Results:
Among 276 patients with PHPT, 59 met criteria for suspected hereditary disease. Most were female (72.8%), and 76.3% were older than 30 years. Median age at diagnosis was 39 years (range 31.5–54.0). Nephrolithiasis was present in 59.3%, nephrocalcinosis in 5%, brown tumors in 10.2%, and fragility fractures in 22%. Mean laboratory values at diagnosis were: PTH 446.5 ± 531.9 pg/mL, total calcium 11.7 ± 2.37 mg/dL, 25(OH)D 24.5 ± 8.17 ng/mL, and creatinine 0.87 ± 0.30 mg/dL. Bone mineral density showed osteoporosis in 18.9%, osteopenia in 29.7%, , 18,9% low bone mass and normal values in 32.4%. Several associated endocrinopathies were identified, including pancreatic neuroendocrine tumors, pituitary adenomas, medullary thyroid carcinoma, and adrenal tumors.

Conclusions:
Although hereditary PHPT is typically described as an early-onset condition, the mean age at diagnosis in our cohort was higher than expected, suggesting delayed recognition. The high frequency of complications and associated endocrinopathies highlights the need for increased awareness and earlier identification of hereditary forms to improve patient management and family screening.

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