祝婕 于飞 苏杭 方海宁

[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 patients.Thyroid hormone treatment can ameliorate the clinical symptom of children，avoid unnecessary drugs and surgical treatment.

[Key words] Primary hypothyroidism；Precocious puberty；Ovarian cyst；Testicle enlargement；Pituitary hyperplasia

Van Wyk-Grumbach综合征是继发于原发性甲状腺功能减退症（primary hypothyroidism，PH）的一组综合征，主要临床表现为儿童长期原发性甲状腺功能减退伴同性性早熟，女孩可表现为乳房发育、阴道流血、卵巢异常发育增大，出现卵巢囊肿；男孩可表现为巨睾丸；患儿阴毛、腋毛不发育，可继发垂体瘤样增生[1]。本病经甲状腺激素替代治疗后，临床症状和实验室指标均可得到明显改善。部分患儿因被误诊为儿童垂体瘤、卵巢囊肿、特发性中枢性性早熟等，被给予手术或不恰当药物治疗。本文对7例Van Wyk-Grumbach综合征患儿的临床表现、实验室、影像学检查及治疗等方面进行归纳总结，并结合文献复习，旨在提高对该病的认识，对患者进行及时、正确的诊断和治疗。……