Lopes Sofia, Monsanto Alice, Ferreira Mafalda, Ventura Mara, Ruas Luísa, Gomes Leonor
Endocrinol Diabetes Metab Case Rep. 2025 Sep 2;2025(3). doi: 10.1530/EDM-24-0113. Print 2025 Jul 1.
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.
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.
原发性甲状旁腺功能亢进症（PHPT）在孕期较为罕见，但与母婴重大风险相关，包括流产、先兆子痫和早产。甲状旁腺功能亢进-颌骨肿瘤（HPT-JT）综合征是一种由CDC73基因突变引起的罕见遗传性PHPT。孕期管理PHPT极具挑战性。虽然手术仍是根治性治疗方法，但在孕期手术并发症风险增加。药物治疗通常禁忌或安全性数据有限，限制了可用的治疗策略。我们报告了一例19岁经基因确诊为HPT-JT综合征的女性病例，她在等待甲状旁腺切除术期间怀孕。鉴于血清钙水平稳定、无并发症且担心随访依从性，采取了保守管理策略，包括口服补液、饮食限制钙摄入以及在整个孕期密切监测。妊娠进展顺利，产后成功进行甲状旁腺切除术后生化指标恢复正常。该病例说明了孕期管理PHPT的挑战，并支持在疾病稳定的特定病例中个体化保守方法的潜在安全性。
孕期原发性甲状旁腺功能亢进症（PHPT）虽罕见，但可能与母婴重大风险相关；个体化管理至关重要。虽然甲状旁腺切除术是PHPT的唯一根治性治疗方法，但对于某些无并发症的稳定病例，将手术推迟至产后可能是合理选择。对于某些血清钙稳定、轻度至中度高钙血症的妊娠患者，采用补液和饮食限制钙摄入的保守管理可能是一种安全的替代方法。对于有PHPT且有相关家族史的年轻患者，基因评估至关重要，因为像HPT-JT综合征这样的遗传性综合征需要长期多学科监测。
