[A case of Van Wyk-Grumbach syndrome with inherited RET gene variation].

Abstract excerpt

6.4岁女童以甲状腺功能减退、性早熟、肝功能损伤、贫血等多系统异常为主要表现，结合血清学检测和影像学检查，诊断为Van Wyk-Grumbach综合征。经足量左旋甲状腺素替代治疗后，上述症状均明显改善，治疗期间自行药物减量，导致症状反复和线性生长受损。外周血基因检测发现该患儿携带RET基因杂合变异，来源于患儿母亲。伴遗传性RET基因变异的Van Wyk-Grumbach综合征尚未见报道。.

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