Endocrine Abstracts

Introduction: Multiple endocrine neoplasia type 2A (MEN2A) is a rare genetic condition characterized by medullary thyroid cancer (MTC), often accompanied by primary hyperparathyroidism (PHPT) in 20% to 30% of cases which is usually detected while investigating other issues and is not commonly the initial indicator of the condition. This study aims to describe the specific features of primary hyperparathyroidism (PHPT) in MEN2A, providing insights into its distinct characteristics for a better understanding of this complex endocrine disorder.

Subjects and methods: This retrospective and descriptive study covers a period of seven years and focuses on the clinical data of five individuals with Multiple Endocrine Neoplasia Type 2A (NEM2A) due to genetic alterations in the RET gene. The study was conducted at the Department of Endocrinology, Diabetology, and Metabolic Diseases at Ibn Sina University Hospital of Rabat, Morocco.

Results: The average age at diagnosis of PHPT was 26.8 years. Renal lithiasis was observed in only one patient, and another presented with a fracture. The parathyroid hormone (PTH) level was notably elevated, measuring 182.2 pg/ml (normal range: 8-76), and the mean serum calcium level was 101.2 mg/l (normal range: 85-105). Parathyroid ultrasound revealed lesions in all patients, leading to surgical intervention in each case. The surgical approach involved the excision of one to three parathyroids.

Discussion & Conclusion: Our study elucidates the frequent manifestation of primary hyperparathyroidism (PHPT) in individuals diagnosed with Multiple Endocrine Neoplasia Type 2A (NEM2A). PHPT is commonly identified during lesion assessments, serving as an incidental rather than a primary diagnostic indicator. Noteworthy is the frequent observation of normocalcemic presentations, potentially attributed to prevalent vitamin D deficiencies in contemporary populations. The adoption of systematic screening protocols proves instrumental in achieving early detection, thus contributing to a more favorable prognosis and timely therapeutic interventions in the context of NEM2A-associated primary hyperparathyroidism.