一名患有威廉姆斯综合征女孩的中枢性性早熟：促性腺激素释放激素类似物治疗的结果

Central precocious puberty in a girl with Williams syndrome: the result of treatment with GnRH analogue.

作者信息

Utine G Eda, Alikasifoglu Ayfer, Alikasifoglu Mehmet, Tuncbilek Ergul

机构信息

Division of Genetics, Department of Pediatrics, Hacettepe University, Sihhiye, 06100 Ankara, Turkey.

出版信息

Eur J Med Genet. 2006 Jan-Feb;49(1):79-82. doi: 10.1016/j.ejmg.2005.04.020. Epub 2005 Jun 29.

DOI:10.1016/j.ejmg.2005.04.020

PMID:16473313

Abstract

Williams syndrome (WS) is a well-known microdeletion syndrome characterized by specific facial features, retardation in growth and development, typical personality and cardiac defects. Poor growth potential is further affected by central precocious puberty (CPP) which is frequent in these patients. A WS patient with CPP is presented, whose pubertal development and bone age progression were arrested by administration of GnRH analogues. The case is reported to discuss the role of GnRH analogues for management of CPP in patients with WS.

摘要

威廉姆斯综合征（WS）是一种著名的微缺失综合征，其特征为特定的面部特征、生长发育迟缓、典型的性格特点以及心脏缺陷。这些患者中常见的中枢性性早熟（CPP）进一步影响了其生长潜力。本文介绍了一名患有CPP的WS患者，其青春期发育和骨龄进展通过使用促性腺激素释放激素（GnRH）类似物得以抑制。报道该病例旨在探讨GnRH类似物在WS患者CPP治疗中的作用。