Ali Dalal, Divilly Patrick, Prichard Ruth, O'Toole Dermot, O'Shea Donal, Crowley Rachel K
St. Vincent's University Hospital, Dublin, Ireland.
St. James's University Hospital, Dublin, Ireland.
Endocrinol Diabetes Metab Case Rep. 2021 Feb 17;2021. doi: 10.1530/EDM-20-0130.
Multiple endocrine neoplasia type 1 (MEN1) is a rare inherited endocrine disorder with a high rate of penetrance. The incidence of MEN1 is 1/30,000 in the general population; however, it is quite rare for a patient to present for medical attention with MEN1 for the first time in pregnancy. Primary hyperparathyroidism (PHPT) is one of the most common features of MEN1. The incidence of PHPT occurring in pregnancy is 1%. Despite advances in the medical, surgical and obstetric care over the years, management of this condition during pregnancy may be challenging. It can be difficult to identify pregnant women with PHPT requiring intervention and to monitor safely. Hypercalcemia can result in significant maternal and fetal adverse outcomes including: miscarriage, intrauterine growth restriction, preterm delivery, neonatal hypocalcaemia, pre-eclampsia and maternal nephrolithiasis. Herein, we present a case study of a lady with a strong family history of MEN1, who was biochemically proven to have PHPT and evidence of Zollinger Ellison Syndrome (ZE) on endoscopy. This patient delayed her assisted pregnancy plans for in vitro fertilization (IVF) until completion of the MEN1 workup; nevertheless, she spontaneously achieved an unplanned pregnancy. As a result, she required intervention with parathyroidectomy in the second trimester of her pregnancy as her calcium level continued to rise. This case study highlights the workup, follow up and management of MEN1 presenting with PHPT and ZE in pregnancy.
Women of childbearing age who are suspected to have a diagnosis of primary hyperparathyroidism ideally should have genetic testing and avoid pregnancy until definitive plans are in place. Zollinger Ellison syndrome in pregnancy means off-label use of high dose of proton pump inhibitors (PPI). Use of PPI in pregnancy is considered to be safe based on retrospective studies. Omeprazole, however, is FDA class C drug because of lack of large prospective studies or large case series during pregnancy. Calcium supplements in the form of calcium carbonate must be converted to calcium chloride by gastric acid in order to be absorbed, however, patients rendered achlorhydric as a result of PPI use will have impaired absorption of calcium. Therefore, use of calcium citrate might be considered a better option in this case.
1型多发性内分泌腺瘤病（MEN1）是一种罕见的遗传性内分泌疾病，其外显率很高。MEN1在普通人群中的发病率为1/30000；然而，患者在孕期首次因MEN1就医的情况相当罕见。原发性甲状旁腺功能亢进症（PHPT）是MEN1最常见的特征之一。孕期发生PHPT的发病率为1%。尽管多年来在医学、外科和产科护理方面取得了进展，但孕期这种疾病的管理仍可能具有挑战性。识别需要干预的PHPT孕妇并进行安全监测可能很困难。高钙血症可导致严重的母婴不良后果，包括：流产、胎儿生长受限、早产、新生儿低钙血症、先兆子痫和孕妇肾结石。在此，我们报告一例有强烈MEN1家族史的女性病例，其经生化检查证实患有PHPT，且在内镜检查中有卓 - 艾综合征（ZE）的证据。该患者将其体外受精（IVF）的辅助妊娠计划推迟到完成MEN1检查之后；然而，她意外自然受孕。结果，由于她的钙水平持续升高，在妊娠中期需要进行甲状旁腺切除术干预。本病例研究强调了孕期出现PHPT和ZE的MEN1的检查、随访及管理。
疑似患有原发性甲状旁腺功能亢进症的育龄女性理想情况下应进行基因检测，在确定明确计划之前避免怀孕。孕期的卓 - 艾综合征意味着高剂量质子泵抑制剂（PPI）的超说明书使用。基于回顾性研究，孕期使用PPI被认为是安全的。然而，由于孕期缺乏大型前瞻性研究或大型病例系列，奥美拉唑是美国食品药品监督管理局（FDA）的C类药物。碳酸钙形式的钙补充剂必须通过胃酸转化为氯化钙才能被吸收，然而，因使用PPI而导致胃酸缺乏的患者钙吸收会受损。因此，在这种情况下，使用柠檬酸钙可能是更好的选择。
