1a 型假性甲状旁腺功能减退症婴儿，误诊为先天性甲状腺功能减退症。
Infant With Pseudohypoparathyroidism Type 1a, Misdiagnosed as Congenital Hypothyroidism.
机构信息
Pediatric Department, Security Forces Hospital, Dammam, Saudi Arabia.
Pediatric Department, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
出版信息
Med Arch. 2023 Feb;77(1):70-73. doi: 10.5455/medarh.2023.77.70-73.
BACKGROUND
Hypothyroidism is a manifestation of multi-hormonal resistance in pseudohypoparathyroidism type Ia (PHP Ia).
OBJECTIVE
The aim of this article was to present 9 months old male patient as case of congenital hypothyroidism.
CASE REPORT
We describe a 9 months old male diagnosed with congenital hypothyroidism at age 1.5 month, who developed later (at age 5 months) cyanotic attack associated with hypocalcaemia, hyperphosphatemia, and hyperparathyroidism, patient had typical characters of AHO, so the diagnosis of Pseudohypoparathyroidism 1a associated with resistance (TSH) was established.
CONCLUSION
Children diagnosed with PHP 1a should be further evaluated for associated resistance endocrinopathies. The literature on pseudohypoparathyroidism is reviewed with special emphasis on the misdiagnosis with congenital hypothyroidism.
背景
甲状腺功能减退症是假性甲状旁腺功能减退症 1 型（PHP Ia）多激素抵抗的表现。
目的
本文旨在介绍一例先天性甲状腺功能减退症的 9 个月大男性患者病例。
病例报告
我们描述了一名 9 个月大的男性，他在 1.5 个月大时被诊断为先天性甲状腺功能减退症，后来（5 个月大时）出现伴有低钙血症、高磷血症和甲状旁腺功能亢进的发绀性发作，患者具有 AHO 的典型特征，因此诊断为假性甲状旁腺功能减退症 1a 合并（TSH）抵抗。
结论
诊断为 PHP 1a 的儿童应进一步评估是否存在相关抵抗性内分泌疾病。本文回顾了假性甲状旁腺功能减退症的文献，特别强调了与先天性甲状腺功能减退症的误诊。
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