Ferwani Pankaj, Jajoo Bhushan, Shrivastava Sandeep
Department of General Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi, Wardha, Maharashtra, India.
J ASEAN Fed Endocr Soc. 2024;39(2):86-91. doi: 10.15605/jafes.039.02.10. Epub 2024 Aug 1.
Primary hyperparathyroidism (PHPT) in adolescents is rare and has severe manifestations as compared to adults. Skeletal involvement in primary hyperparathyroidism in the form of deformities like genu valgus, genu varus and cubitus varus is rare and limited to case reports and case series. There is only one case of genu varus with genu valgus on the contralateral extremity (windswept deformity) that has been reported to date in the literature. We report the case of a 19-year-old male who presented with isolated progressive bending of his legs at the knee (windswept deformity) for three years. He was found to have hypercalcemia, hypophosphatemia, high alkaline phosphatase, high intact parathyroid hormone (iPTH), normal 25-hydroxy vitamin D level and a normal kidney function test. A diagnosis of primary hyperparathyroidism was made. On imaging studies, a left inferior parathyroid adenoma was localized and was successfully removed surgically. Serum calcium and iPTH normalized post-operatively. The patient is being planned for corrective osteotomy after stabilization of alkaline phosphatase levels.
青少年原发性甲状旁腺功能亢进症（PHPT）较为罕见，与成人相比，其临床表现更为严重。原发性甲状旁腺功能亢进症导致的骨骼畸形，如膝外翻、膝内翻和肘内翻，较为罕见，且仅见于病例报告和病例系列。迄今为止，文献中仅报道过1例对侧肢体同时存在膝内翻和膝外翻（风吹样畸形）的病例。我们报告1例19岁男性患者，其双膝出现孤立性进行性弯曲（风吹样畸形）达3年之久。检查发现患者存在高钙血症、低磷血症、碱性磷酸酶升高、甲状旁腺素（iPTH）升高、25-羟维生素D水平正常以及肾功能检查正常。最终诊断为原发性甲状旁腺功能亢进症。影像学检查发现左侧下甲状旁腺腺瘤，并成功实施手术切除。术后血清钙和iPTH恢复正常。待碱性磷酸酶水平稳定后，计划为该患者实施截骨矫正术。
