Volume 24 Issue 6
Jun.  2026
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CHEN Yanna, GU Wensha, ZHOU Yue, HU Changjun, CAO Huimin, SHI Min. A case report of pseudohypoparathyroidism with epilepsy as the initial symptom[J]. Chinese Journal of General Practice, 2026, 24(6): 1081-1084. doi: 10.16766/j.cnki.issn.1674-4152.004559
Citation: CHEN Yanna, GU Wensha, ZHOU Yue, HU Changjun, CAO Huimin, SHI Min. A case report of pseudohypoparathyroidism with epilepsy as the initial symptom[J]. Chinese Journal of General Practice, 2026, 24(6): 1081-1084. doi: 10.16766/j.cnki.issn.1674-4152.004559

A case report of pseudohypoparathyroidism with epilepsy as the initial symptom

doi: 10.16766/j.cnki.issn.1674-4152.004559
  • Received Date: 2025-06-22
    Available Online: 2026-11-10
  • Pseudohypoparathyroidism (PHP) is a rare inherited disease, of which biochemical parameters show low blood calcium, high blood phosphorus, and high parathyroid hormone. The clinical manifestations of PHP are significantly heterogeneous. These PHP patients with epilepsy as the first symptom and without albright hereditary osteodystrophy (AHO) are easily misdiagnosed. This article selected one case of PHP with epilepsy from the Department of Endocrinology in the Huai'an No.1 People's Hospital. Its clinical data, laboratory tests, imaging examinations, genetic testing results, and follow-up were analyzed in combination with relevant literature at home and abroad. We aimed to explore the clinical characteristics and management strategies of PHP in order to improve the diagnostic and management abilities of clinical doctors for this disease.

     

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  • [1]
    NAGANUMA J, SUZUMURA H, KOYAMA S, et al. Pseudohypoparathyroidism type 1B with involuntary movements: a case report and literature review[J]. Clin Pediatr Endocrinol, 2024, 33(3): 151-156. doi: 10.1297/cpe.2023-0080
    [2]
    MADURO A I, PINTO SARAIVA A, PIMENTA RODRIGUES O, et al. Albright's hereditary osteodystrophy: an entity to recognize[J]. Rheumatology (Oxford), 2022, 61(11): e356-e357. DOI: 10.1093/rheumatology/keac277.
    [3]
    简丽, 蔡勇, 何阳杰, 等. 假性甲状旁腺功能减退症Ⅰa型合并急性脑卒中1例及文献回顾[J]. 中华全科医学, 2021, 19(9): 1608-1611. doi: 10.16766/j.cnki.issn.1674-4152.002123

    Jian L, Cai Y, He Y J, et al. A case of pseudohypoparathyroidism type Ia combined with acute stroke and literature review[J]. Chinese Journal of General Practice, 2021, 19(9): 1608-1611. doi: 10.16766/j.cnki.issn.1674-4152.002123
    [4]
    赵子暄, 权莉, 蒋升. 假性甲状旁腺功能减退症的临床进展[J]. 新疆医学, 2023, 53(6): 657-659.

    Zhao Z X, Quan L I, Jiang S. Clinical progress of pseudohypoparathyroidism[J]. Xinjiang Medical Journal, 2023, 53(6): 657-659.
    [5]
    JANUŚ D, ROZTOCZYŃSKA D, JANECZKO M, et al. New insights into thyroid dysfunction in patients with inactivating parathyroid hormone/parathyroid hormone-related protein signalling disorder (the hormonal and ultrasound aspects): one-centre preliminary results[J]. Front Endocrinol (Lausanne), 2022, 13: 1012658. DOI: 10.3389/fendo.2022.1012658.
    [6]
    SLOUMA M, HANNECH E, GHARSALLAH I. Hypoparathyroidism: musculoskeletal manifestations related to parathormone deficiency[J]. Curr Rheumatol Rev, 2024, 20(5): 488-500. doi: 10.2174/0115733971267895231227102539
    [7]
    杨文君, 龙晓丹, 莫朝晖, 等. GNAS基因突变致2例假性甲状旁腺功能减退症Ⅰa型[J]. 中华骨质疏松和骨矿盐疾病杂志, 2021, 14(6): 601-606.

    Yang W J, Long X D, Mo C H, et al. Two cases of pseudohypoparathyroidism type Ⅰa caused by GNAS gene mutation[J]. Chin J Osteoporos Bone Miner Res, 2021, 14(6): 601-606.
    [8]
    EXPÓSITO RASPEÑO M, SÁNCHEZ ESCUDERO V, PÉREZ DE NANCLARES LEAL G, et al. Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report[J]. J Pediatr Endocrinol Metab, 2024, 37(3): 289-295. doi: 10.1515/jpem-2023-0454
    [9]
    URAKAWA T, SANO S, KAWASHIMA S, et al. (Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B[J]. Eur J Endocrinol, 2023, 189(6): 590-600. doi: 10.1093/ejendo/lvad163
    [10]
    LUO D D, QI X Y, LIU L N, et al. Genetic and epigenetic characteristics of autosomal dominant pseudohypoparathyroidism Type 1B: case reports and literature review[J]. Horm Metab Res, 2021, 53(4): 225-235. doi: 10.1055/a-1341-9891
    [11]
    YOON S H, MEYER M B, AREVALO C, et al. A parathyroid hormone/salt-inducible kinase signaling axis controls renal vitamin D activation and organismal calcium homeostasis[J]. J Clin Invest, 2023, 133(9): e163627. DOI: 10.1172/JCI163627.
    [12]
    JÜPPNER H. Molecular definition of pseudohypoparathyroidism variants[J]. J Clin Endocrinol Metab, 2021, 106(6): 1541-1552. doi: 10.1210/clinem/dgab060
    [13]
    范娟, 高升波, 魏玉娇, 等. 终末期肾病病人骨桥蛋白水平与冠状动脉钙化相关性[J]. 青岛大学学报(医学版), 2021, 57(4): 517-521.

    Fan J, Gao S B, Wei Y J, et al. Relationship between osteopontin level and coronary artery calcification in patients with end-stage renal disease[J], J of Qindao University(Medical sciences), 2021, 57(4): 517-521.
    [14]
    马海燕, 朱海涛, 杨露, 等. 以癫痫样发作为主要表现的甲状旁腺功能减退症的临床特征分析[J]. 临床神经病学杂志, 2023, 36(3): 165-169.

    Ma H Y, Zhu H T, Yang L, et al. Analysis of clinial features of hypoparathyroidism with epileptiform as the main manifestation[J], J Clin Neurol, 2023, 36(3): 165-169.
    [15]
    迟秀娥, 张倩, 李文东, 等. 误诊为癫痫的假性甲状旁腺功能减退症Ⅰa型1例并文献复习[J]. 临床荟萃, 2022, 37(9): 827-830.

    Chi X E, Zhang Q, Li W D, et al. Pseudohypoparathyroidism type Ⅰa misdiagnosed as epilepsy: a case report and literatures review[J]. Clinal Focus, 2022, 37(9): 827-830.
    [16]
    ABBAS A, HAMMAD A S, AL-SHAFAI M. The role of genetic and epigenetic GNAS alterations in the development of early-onset obesity[J]. Mutat Res Rev Mutat Res, 2024, 793: 108487. DOI: 10.1016/j.mrrev.2023.108487.

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