Department of Pediatrics, St Stephens Hospital, Tis Hazari, Delhi, India.
Indian Pediatr. 2012 Dec;49(12):989-91. doi: 10.1007/s13312-012-0225-z.
We report a 12-year-old child with pseudohypoparathyroidism (PHP) whose mother had pseudopseudohypoparathyroidism. The child had low serum calcium, high phosphorous and high parathormone (PTH) levels. PHP occurs due to a defect in the guanine nucleotide binding protein (G protein). She also had hypothyroidism which is known to utilize the G protein pathway. She developed T 1 diabetes mellitus (T1DM) while under follow-up. This is arguably the first time T1DM has been reported associated with PHP.
我们报告了一例 12 岁的假性甲状旁腺功能减退症(PHP)患儿,其母亲患有假性假性甲状旁腺功能减退症。患儿血钙低,血磷高,甲状旁腺素(PTH)水平高。PHP 是由于鸟苷酸结合蛋白(G 蛋白)缺陷引起的。她还患有甲状腺功能减退症,已知甲状腺功能减退症利用 G 蛋白途径。在随访过程中,她患上了 1 型糖尿病(T1DM)。这可以说是首次报道 T1DM 与 PHP 相关。