假性甲状旁腺功能减退症(PHP)是一组以终末器官对甲状旁腺激素(PTH)抵抗为特征的疾病,导致高血清PTH,低钙,和高磷酸盐水平。在它的5个亚型中,PHP1a型是最常见的,导致遗传性骨营养不良,以身材矮小为标志,掌骨短,和电解质异常如高磷血症和低钙血症,会导致手提和癫痫发作.很少,PHP患者可以经历长骨的病理性骨折。本报告讨论了一名22岁的PHP女性,她表现为肌阵挛性癫痫发作和双侧髋部骨折。最初的症状包括适合,侧腹疼痛,后来,腿无力。诊断基于临床病史,血清PTH升高,低钙,高磷酸盐,双侧白内障,甲状腺功能减退,基底节钙化,和家族史。治疗开始与IV钙,其次是阿法骨化醇,口服钙,和抗生素,导致症状缓解。髋部骨折采用POP石膏治疗,随后闭合复位。患者出院,补充钙和1,25二羟基维生素D,并计划定期随访。
Pseudohypoparathyroidism (PHP) is a group of disorders characterized by end-organ resistance to parathyroid hormone (PTH), resulting in high serum PTH, low calcium, and high phosphate levels. Among its 5 subtypes, PHP type 1a is the most common and leads to hereditary osteodystrophy, marked by short stature, short metacarpals, and electrolyte abnormalities such as hyperphosphatemia and hypocalcemia, which can cause tetany and seizures. Rarely, PHP patients can experience pathological fractures of long bones. This report discusses a 22-year-old female with PHP who presented with myoclonic seizures and bilateral hip fractures. Initial symptoms included fits, flank pain, and later, leg weakness. Diagnosis was based on clinical history, elevated serum PTH, low calcium, high phosphate, bilateral cataracts, hypothyroidism, basal ganglia calcification, and family history. Treatment began with IV calcium, followed by alfacalcidol, oral calcium, and antibiotics, leading to symptom remission. Hip fractures were managed with a POP cast and later closed reduction. The patient was discharged with calcium and 1,25 dihydroxy Vitamin D supplementation and scheduled for regular follow-up.