儿童Van Wyk-Grumbach综合征一例

A case of Van Wyk-Grumbach syndrome: clinical analysis

回顾首都儿科研究所附属儿童医院2019年收治的1例儿童Van Wyk-Grumbach综合征患儿的临床资料。患儿女性、7岁,以身材矮小(<-2 s)、肥胖、乳腺增大为主要临床表现,检测血促甲状腺激素(TSH)>100 mIU/L、游离甲状腺素(FT4)5.15 pmmol/L、雌二醇与催乳素水平增高,促性腺激素激发试验提示为外周性性早熟,卵巢巨大囊肿、垂体增生,骨龄明显落后,贫血、血脂水平增高,心包积液,诊断为Van Wyk-Grumbach综合征。行左甲状腺素钠替代治疗,剂量从25μg/d逐渐增至75μg/d。治疗后出现阴道出血3 d,治疗3个月时甲状腺功能基本正常,卵巢囊肿明显缩小,心包积液吸收,继续治疗并根据甲状腺功能检查结果左甲状腺素剂量减至50μg/d,治疗1年时甲状腺功能基本正常,未再出现阴道出血,卵巢、垂体大小恢复正常。

The clinical data of a child with Van Wyk-Grumbach syndrome(VWGS)who visited Capital Institute of Pediatrics in 2019 were retrospectively analyzed.The patient was a seven year old girl,her main clinical manifestations included short stature(well below-2 standard deviations),obesity and breast development.The results of laboratory testing indicated that the level of thyrotropin(TSH)>100 mIU/L and the level of free thyroxine(FT4)was 5.15 pmmol/L;serum estradiol and prolactin levels were significantly elevated;the gonadotropin-releasing hormone(GnRH)stimulation test showed that the gonad axis was not activated.She had giant ovarian cyst,pituitary hyperplasia,anemia and pericardial effusion.Bone age was delayed;and her blood lipids had increased.Therefore,she was diagnosed as Van Wyk-Grumbach syndrome.The patient received the treatment of levothyroxine,the drug does was gradually increased from 25μg per day to 75μg per day,vaginal bleeding was followed by medication for 3 days.Three months later,her thyroid function was back to normal,and giant ovarian cyst regressed,but the ovaries were bulky,pericardial effusion was absorbed.The levothyroxine dose was adjusted to 50μg per day according to the test result of thyroid function.And 1 year late the thyroid function was normal,pituitary magnetic resonance imaging(MRI)showed the hyperplastic adenohypophysis was back to normal,no more vaginal bleeding occurred,and the giant ovarian cyst was shrunk.