Van Wyk―Grumbach综合征临床特点及发病机制分析.docVIP

Van Wyk―Grumbach综合征临床特点及发病机制分析 　　[摘要] 目的 总结Van Wyk-Grumbach综合征的临床特点，分析其可能的发病机制。 方法 回顾性分析本院2013年8月～2015年9月诊断的7例Van Wyk-Grumbach综合征临床资料，并进行相关文献复习。 结果 7例患儿均有甲状腺功能减退伴性早熟表现，临床检查结果各异，LH、FSH、PRL水平可不升高，GNRH刺激试验可为阴性或阳性，多伴有骨龄落后、垂体增生、多毛、贫血、性腺增大，经补充甲状腺激素治疗后各项指标及症状可恢复。 结论 临床诊治过程中应提高对Van Wyk-Grumbach综合征的认识，对于性早熟（女童乳房发育、阴道出血、男童睾丸增大）伴骨龄落后、生长减速、卵巢囊肿、巨大睾丸、垂体增生等患儿，应注意筛查甲状腺功能。Van Wyk-Grumbach综合征患儿伴发的性早熟多为非GNRH依耐性，给予甲状腺激素可改善患儿的临床症状，避免不必要的药物及手术治疗。 　　[关键词] 原发性甲状腺功能减退；性早熟；卵巢囊肿；睾丸增大；垂体增生 　　[中图分类号] R581.2 [文献标识码] A [文章编号] 1674-4721（2016）02（b）-0044-04 　　Analysis of clinical feature and pathogenesis of Van Wyk-Grumbach syndrome 　　ZHU Jie YU Fei▲ SU Hang FANG Hai-ning 　　Pediatics Department of Endocrinology and Genetics Metabolism， Maternal and Child Health Care Hospital of Hubei Province，Wuhan 430070，China 　　[Abstract] Objective To summarize the clinical feature of Van Wyk-Grumbach syndrome and analyze the possible pathogenesis. Methods Clinical data of 7 Van Wyk-Grumbach syndrome of our hospital from August 2013 to September 2015 was retrospective analyzed.Related Documents review was conducted. Results All of patients had hypothyroidism with precocious puberty，and with different clinical examination results.The level of LH，FSH，PRL could not be increased.The GNRH stimulation test was negative or positive.Most of them have retardation of bone age，pituitary hyperplasia，polytrichia，anemia or gonad enlargement，but these indexes and symptoms could be recovered by treatment with thyroid hormone. Conclusion The cognition to Van Wyk-Grumbach syndrome should be improved in the process of clinical diagnosis and treatment.For the children with precocious puberty （girls breast development，vaginal bleeding，boys testicle enlargement） with retardation of bone age，growth decelerated，ovarian cyst，enlarged testicle or pituitary hyperplasia， etc.，thyroid function should be paid attention to screening. Precocious puberty of Van Wyk-Grumbach syndrome is not a real gonadotropin- independent in most of p