第509例——乏力、嗜睡、心境障碍、甲状腺功能减退  

The 509th case:fatigue,sleepiness,mood disorder,and hypothyroidism

作　　者：林丽灵 刘赫[2] 平凡[2] 柴晓峰[2] 李乃适[2] 连小兰[2] Lin Liling;Liu He;Ping Fan;Chai Xiaofeng;Li Naishi;Lian Xiaolan(Department of Laboratory Medicine,Peking Union Medical College Hospital,Peking Union Medical College&Chinese Academy of Medical Science,Beijing 100730,China;Department of Endocrinology,Peking Union Medical College Hospital,Peking Union Medical College&Chinese Academy of Medical Science,Beijing 100730,China)

机构地区：[1]中国医学科学院,北京协和医学院,北京协和医院检验科,北京100730 [2]中国医学科学院,北京协和医学院,北京协和医院内分泌科,北京100730

出　　处：《中华内科杂志》2024年第9期911-916,共6页Chinese Journal of Internal Medicine

基　　金：中国医学科学院医学与健康科技创新工程(2021-I2M-1-001)。

摘　　要：患者女, 28岁, 因乏力、嗜睡4年就诊, 检查发现中枢性甲状腺功能减退, 同期诊断心境障碍。患者甲状腺体积正常, 不伴有其他垂体轴系受累。病程中症状改善与游离甲状腺素(FT_(4))回升和抗精神类药物调整同步。患者家族中祖母有中枢性甲状腺功能减退, 母亲、舅舅有促甲状腺激素降低或不适当分泌, 遗传倾向可能性大, 但全外显子检测未发现明确致病性变异。治疗上, 予左甲状腺素钠治疗, 维持FT_(4)正常中值水平, 由专科医院调整心境障碍用药。孤立性中枢性甲状腺功能减退极为罕见, 通过报道此例提高对该病的认识。A 28-year-old woman presented with a 4-year history of fatigue and sleepiness and was found to have central hypothyroidism and mood disorder.The patient had normal thyroid volume and did not show any other pituitary axis involvement.Over the course of the disease,her symptom improvement matched with the free thyroxine(FT_(4))rebound and the adjustment of antipsychotic medication.The patient's grandmother had central hypothyroidism,and her mother and uncle had lowered or inappropriately normal thyroid stimulating hormone.Hence,genetic involvement was highly suspected,but whole exon sequencing did not reveal a pathogenic variant.Levothyroxine tablets were prescribed to maintain a normal median level of FT_(4),and mood disorder medications were adjusted by specialists.Isolated central hypothyroidism is extremely rare,and we report this case aiming to raise awareness of this condition.

关 键 词：甲状腺功能减退症 嗜睡 乏力 孤立性中枢性甲状腺功能减退 

分 类 号：R581.2[医药卫生—内分泌]