以癫痫为首发症状的假性甲状旁腺功能减退症1例报道

陈燕娜; 谷文莎; 周岳; 胡长军; 曹慧敏; 石敏

doi:10.16766/j.cnki.issn.1674-4152.004559

以癫痫为首发症状的假性甲状旁腺功能减退症1例报道

doi: 10.16766/j.cnki.issn.1674-4152.004559

南京医科大学附属淮安第一医院内分泌科，江苏淮安 223000

详细信息

通讯作者:
石敏，E-mail: smjcl@163.com

中图分类号: R742.1 R582.2
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出版历程
- 收稿日期: 2025-06-22
- 网络出版日期: 2026-11-10

A case report of pseudohypoparathyroidism with epilepsy as the initial symptom

Department of Endocrinology, the Affiliated Huai'an No.1 People's Hospital of Nanjing Medical University, Huai'an, Jiangsu 223000, China

摘要

摘要: 假性甲状旁腺功能减退（PHP）是一种罕见的遗传性疾病，以低血钙、高血磷、高甲状旁腺激素为主要生化改变，其临床表现具有异质性。以癫痫为首发症状、无Albright遗传性骨营养不良（AHO）畸形的PHP患者极易被误诊。本文报道1例淮安市第一人民医院内分泌科收治的以癫痫起病的PHP病例，分析其临床资料、实验室检查、影像学检查和基因检测结果以及随访情况；并结合国内外相关文献进行复习，探讨PHP的临床特点和管理方案，以提高临床医生对该疾病的诊断和管理能力。
- 假性甲状旁腺功能减退 /
- 癫痫 /
- 诊断 /
- 管理
Abstract: 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.
- Pseudohypoparathyroidism /
- Epilepsy /
- Diagnosis /
- Management

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图 1 PHP患者双手(左手骨龄片)

Figure 1. The X-ray plain films of the PHP patient's hands (bone-age film)

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图 2 PHP患者头颅CT示双侧基底节区等多发钙化灶

Figure 2. The PHP patient's head CT shows multiple calcifications in the bilateral basal ganglia and other areas

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表 1 患者实验室检查结果

Table 1. The result of patients' laboratory examinations

日期	PTH(pg/mL)	血钙(mmol/L)	血磷(mmol/L)	总25羟维生素D(ng/mL)	甲状腺功能	性激素
2024年1月27日	242.00	1.36	3.33	未测	正常、TRAb、TPOAb	E₂＜5.000 pg/mL，FSH 0.46 IU/L
					TG-Ab阴性	LH＜0.300 IU/L，T＜0.087 nmol/L，PRL 2.21 ng/mL
2024年1月28日	未测	1.52	3.23	16.16	未测	未测
2024年3月11日	134.00	2.31	2.11	未测	未测	未测
2024年4月16日	203.50	2.30	2.09	29.90	未测	未测
注：血钙正常范围2.10~2.70 mmol/L；血磷正常范围0.81~1.45 mmol/L；TRAb为促甲状腺激素受体抗体(thyrotropin receptor antibodies)；TPOAb为抗甲状腺过氧化物酶抗体(thyroperoxidase antibodies)；TG-Ab为抗甲状腺球蛋白抗体(antithyroglobulin antibodies)；E₂为雌二醇(estradiol)；FSH为卵泡生成素(follicle stimulating hormone)，正常参考范围为1.50~14.40 IU/L；LH为促黄体生成素(luteinizing hormone)；T为睾酮(testosterone)；PRL为垂体泌乳素(pituitary prolactin)，正常参考范围为4.04~15.20 ng/mL。

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表 2 患者生长激素兴奋试验结果(ng/mL)

Table 2. The result of patients' growth hormone stimulation test (ng/mL)

生长激素兴奋试验	0 min	30 min	60 min	90 min	120 min
精氨酸激发实验	0.09	5.79	4.33	1.16	0.40
左旋多巴激发实验	0.13	0.21	7.03	9.23	2.32

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