A case of pseudohypoparathyroidism type Ia patients with primary thypothyroidism was reported in the present study.The patient was a 14-year-old male, who was characterized as AHO stature with metacarpal syndrome, re-peated tetany, and multiple calcinosis ( in subcutaneous and brain) .He was also disnosed as congenital primary hypothy-roidism and treated with thyroid tablets followed by levothyroxine.The laboratory findings showed hypocalcaemia, hyper-phosphatemia, decreased FT4 with elevated TSH.A heterozygous mutation of c.833G>A, p.( Trp278*) in GNAS gene was detected in the patient, but not in his parents.%1例14岁男性假性甲状旁腺功能减退症Ⅰa型合并原发性甲状腺功能减退症患者自幼起病,主要临床表现为AHO体型与掌骨征、反复抽搐和皮下与脑组织多发钙化,同时合并原发性甲状腺功能减退症。既往按照甲状腺功能减退症治疗。实验室检查示低钙血症、高磷血症、游离甲状腺素( FT4)降低而促甲状腺素(TSH)升高,基因测序发现GNAS基因c.833G>A, p.(Trp278*)杂合,为已报道的致病突变,其父母无该基因突变。根据患者临床表现及基因测序结果,诊断假性甲状旁腺功能减退症Ⅰa型。
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