中文摘要：

目的 探讨Van Wyk-Grumbach综合征（VWGS）的早期诊断和治疗。方法 回顾分析1例VWGS患儿的临床 资料，并复习相关文献。结果 患儿，女，9岁，因身高增长缓慢、肥胖3年，伴乳房增大6个月、阴道出血3个月就诊。游离 甲状腺素（FT4）0.46 ng/dL，促甲状腺素（TSH）〉150 mIU/L；GnRH激发试验提示性腺轴未启动；血泌乳素、雌二醇明显升高；骨龄延迟；彩色超声示子宫、卵巢增大，可见卵巢囊肿；垂体MRI示腺垂体增生。予左甲状腺素钠治疗2个月后甲状腺功能恢复正常，复查彩超示双卵巢明显缩小，体质量减轻6 kg，未再阴道出血；3个月后双卵巢至正常大小，鞍区MRI占位缩小；6个月后复查彩色超声示子宫、卵巢大小正常，无卵巢囊肿，鞍区MRI占位消失。结论 VWGS是长期未经治疗的严 重原发性甲状腺功能减退症少见的并发症，好发于青春期女童，甲状腺素替代治疗有效。

英文摘要：

Objective To explore the early diagnosis and treatment of Van Wyk-Grumbach syndrome （VWGS）. Methods The clinical data of a child with VWGS were retrospectively analyzed. The related literatures were reviewed. Results Nine-year-old female presented with growth retardation and obesity for 3 years, combined with breast development for 6 months and vaginal bleeding for 3 month. The level of free thyroxine （FT4） was 0.46 ng/dL and thyrotropin （TSH） 〉150 mIU/L. The GnRH stimulation test showed that the gonad axis was not activated. The serum prolactin and estradiol were significantly increased. Bone age was delayed. Color Doppler ultrasound showed enlarged uterus and enlarged ovary, and ovarian cyst was seen. Pituitary MRI showed hyperplasia of the pituitary gland. The patient received the treatment of Euthyrox, and 2 months later, thyroid function was back to normal, ovaries were significantly reduced by reexamine of color doppler ultrasound, body weight was reduced by 6 kg, and there was no vaginal bleeding. Three months later, both ovaries returned to normal size, and pituitary MRI showed hyperplasia of adenohypophysis was improved. After 6 months, both of uterus and ovary were turn to normal size, ovarian cyst disappeared, and pituitary MRI showed normal. Conclusions VWGS is a rare complication of severe primary hypothyroidism untreated for long time and it mainly occurs in adolescent girls. Thyroid replacement therapy is effective.