Pawal Pratibha, Nikalje Anand, Chauhan Yash, Varthakavi Premlata, Bhagwat Nikhil
Spandan Superspeciality Clinic, Maharashtra, India.
Mahatma Gandhi Misson Medical College and Hospital, Maharashtra, India.
J ASEAN Fed Endocr Soc. 2024;39(2):112-118. doi: 10.15605/jafes.039.02.17. Epub 2024 Sep 3.
Typically, primary hyperparathyroidism (PHPT) develops as a result of multiglandular hyperplasia, parathyroid cancer, or parathyroid adenoma. Patients usually present with skeletal manifestations such as low-trauma fractures. Osteitis fibrosa cystica (OFC) is a classic yet rare skeletal manifestation of advanced PHPT currently reported in less than 2% of patients. We present a case of a 29-year-old Indian female who presented with a femur fracture and mandibular OFC 20 days after delivery. The painless mandibular swelling gradually progressed from the third month of pregnancy. The biochemical and radiological investigations were indicative of PHPT-associated OFC. After the excision of the three-and-a-half parathyroid gland, histology revealed benign cystic adenomas and hyperplasia. Based on the associated clinical manifestations, OFC was suspected. Clinical exome sequencing revealed (+) c.687_688dupAG heterogenous pathogenic autosomal dominant mutation. Undiagnosed PHPT in mothers during pregnancy led to neonatal hypocalcaemic convulsions. With adequate supplementation, the infant recovered completely from transient congenital hypoparathyroidism. OFC is an important diagnosis to consider in a young patient with swelling of the neck and jaw. Simultaneous high levels of PTH and serum calcium should raise a high index of suspicion for OFC. Parathyroidectomy helps manage the biochemical abnormalities and causes regression of the jaw mass that causes facial disfigurement and attenuates the declining BMD. Children born to mothers with PHPT should be evaluated for neonatal hypoparathyroidism and supplemented appropriately to reduce the risk of hypocalcaemic manifestations that can be life-threatening. If the mutation is detected, the offspring should be monitored for signs of PHPT due to the high probability of inheritance and parathyroid malignancy.
通常情况下，原发性甲状旁腺功能亢进症（PHPT）是由多腺体增生、甲状旁腺癌或甲状旁腺腺瘤引起的。患者通常会出现骨骼方面的症状，如低创伤性骨折。纤维囊性骨炎（OFC）是晚期PHPT的一种典型但罕见的骨骼表现，目前报告的患者比例不到2%。我们报告一例29岁的印度女性病例，她在分娩后20天出现股骨骨折和下颌骨OFC。无痛性下颌肿胀从怀孕第三个月开始逐渐加重。生化和影像学检查提示为PHPT相关的OFC。切除三个半甲状旁腺后，组织学检查显示为良性囊性腺瘤和增生。根据相关临床表现，怀疑为OFC。临床外显子测序显示（+）c.687_688dupAG异质性致病常染色体显性突变。母亲孕期未诊断出的PHPT导致新生儿低钙惊厥。经过充分补充，婴儿从短暂性先天性甲状旁腺功能减退症中完全康复。对于颈部和下颌肿胀的年轻患者，OFC是一个需要考虑的重要诊断。同时出现高水平的甲状旁腺激素（PTH）和血清钙应高度怀疑OFC。甲状旁腺切除术有助于控制生化异常，并使导致面部畸形的颌部肿块消退，减轻骨密度下降。患有PHPT的母亲所生的孩子应评估是否患有新生儿甲状旁腺功能减退症，并给予适当补充，以降低可能危及生命的低钙表现的风险。如果检测到突变，由于遗传和甲状旁腺恶性肿瘤的可能性很高，应监测后代是否有PHPT的迹象。
