Endocrine Abstracts

Background: Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterised by hypercalcemia and elevated parathyroid hormone (PTH) levels. Multiple Endocrine Neoplasia type 1 (MEN1) is a hereditary syndrome associated with multiglandular endocrine tumours, including recurrent or multigland parathyroid disease. Management of PHPT during pregnancy presents significant diagnostic and therapeutic challenges, particularly in the context of MEN1.

Case Presentation: We report a case of a 24-year-old woman initially diagnosed with PHPT, presenting with hypercalcemia (2.76 mmol/l), elevated PTH (13.2 pmol/l), and associated symptoms including palpitations and near-syncope. Imaging identified two parathyroid adenomas, which were surgically removed. Postoperative calcium and PTH levels improved but remained mildly elevated. The patient was lost to follow-up and subsequently had two pregnancies. During her second pregnancy, she re-presented with recurrent hypercalcemia (2.68 mmol/l), elevated PTH (22.6 pmol/l), and a neck mass. Genetic testing confirmed a MEN1 mutation.

Management and Outcome: Following multidisciplinary discussion, parathyroidectomy was performed during the second trimester to reduce maternal and fetal risks. Postoperative calcium and PTH were normalised without complications. The patient remains under endocrine and obstetric care, with ongoing surveillance for MEN1-associated tumours. Genetic counselling has been provided to assess familial risk and guide screening in offspring.

Discussion: Recurrent or multiglandular PHPT in young individuals should prompt evaluation for MEN1. During pregnancy, hypercalcemia increases the risk of miscarriage, preeclampsia, intrauterine growth restriction, and neonatal hypocalcemia. While conservative management may be considered in mild cases, surgery is the definitive treatment for symptomatic or persistent hypercalcemia, ideally performed in the second trimester to minimise obstetric and anaesthetic risks. This case highlights the importance of a coordinated, multidisciplinary approach and early genetic diagnosis in managing complex endocrine conditions during pregnancy.

Conclusion: This case underscores the diagnostic and therapeutic complexities of recurrent PHPT in pregnancy and the critical role of recognising MEN1. Timely surgical intervention during pregnancy, along with multidisciplinary and genetic input, is essential to optimise maternal and fetal outcomes.