Gilani Mehwish, Memon Asif Ali, Asif Naveed, Basharat Nida
Department of Chemical Pathology, Armed Forces Institute of Pathology, Rawalpindi and National University of Medical Sciences (NUMS), Rawalpindi.
J Coll Physicians Surg Pak. 2018 Sep;28(9):S166-S168. doi: 10.29271/jcpsp.2018.09.S166.
Pseudohypoparathyroidism (PHP) is an extremely rare group of disorders. It is a spectrum of disorders caused by end organ resistance to parathyroid hormone (PTH) and is represented by impaired signalling that activates cAMP dependent pathways via alpha subunit of G-protein (GS). It is characterised by hypocalcemia, hyperphosphatemia, raised PTH levels due to insensitivity to biological activity of PTH, and normal renal function tests. We describe a case of 10-year girl who presented with fear of falling down from heights. Her laboratory evaluation and skeletal survey showed evidence of PHP along with features of Albright's hereditary osteodystrophy (AHO) pointing towards the diagnosis of PHP type 1a.
假性甲状旁腺功能减退症（PHP）是一组极为罕见的疾病。它是由终末器官对甲状旁腺激素（PTH）抵抗引起的一系列疾病，其特征是通过G蛋白（GSα）的α亚基激活cAMP依赖性途径的信号传导受损。其特点是低钙血症、高磷血症、由于对PTH的生物活性不敏感导致PTH水平升高，以及肾功能检查正常。我们描述了一名10岁女孩的病例，她表现出恐高。她的实验室检查和骨骼检查显示有PHP的证据以及奥尔布赖特遗传性骨营养不良（AHO）的特征，提示为1a型PHP的诊断。
