Challenges in the management of jaw tumor syndrome: a case report of pregnancy complicating treatment decision making.

SUMMARY

Primary hyperparathyroidism (PHPT) is a rare condition during pregnancy, but it is associated with significant maternal and fetal risks, including miscarriage, preeclampsia, and preterm birth. Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a rare genetic form of PHPT caused by mutations in the CDC73 gene. Managing PHPT during pregnancy is particularly challenging. While surgery remains the definitive treatment, it carries increased risk of complications during pregnancy. Pharmacological options are generally contraindicated or have limited safety data, limiting available therapeutic strategies. We report the case of a 19-year-old woman with genetically confirmed HPT-JT syndrome who became pregnant while awaiting parathyroidectomy. Given the stability of serum calcium levels, absence of complications, and concerns regarding adherence to follow-up, a conservative management strategy was adopted, consisting of oral hydration, dietary calcium restriction, and close monitoring throughout gestation. The pregnancy progressed uneventfully, and a successful postpartum parathyroidectomy led to biochemical normalization. This case illustrates the challenges in managing PHPT during pregnancy and supports the potential safety of individualized conservative approaches in selected cases with stable disease.

LEARNING POINTS

Primary hyperparathyroidism (PHPT) during pregnancy is rare but may be associated with significant maternal and fetal risks; individualized management is essential. While parathyroidectomy is the only definitive treatment for PHPT, deferring surgery until the postpartum period may be a reasonable option in selected stable cases without complications. Conservative management with hydration and dietary calcium restriction may be a safe alternative in selected pregnant patients with stable, mild-to-moderate hypercalcemia. Genetic evaluation is critical in young patients with PHPT and relevant family history, as hereditary syndromes such as HPT-JT syndrome require long-term multidisciplinary surveillance.