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A case report of precocious puberty related to Rett syndrome and a literature review.
Die Pharmazie Pub Date : 2021-11-01 , DOI: 10.1691/ph.2021.1747 Lianlian Yang 1 , Mingyan Jiang 1 , Ruixin Yu 1 , Ruolan Hu 1 , Fei Xiong 1 , Jinrong Li 2
Die Pharmazie Pub Date : 2021-11-01 , DOI: 10.1691/ph.2021.1747 Lianlian Yang 1 , Mingyan Jiang 1 , Ruixin Yu 1 , Ruolan Hu 1 , Fei Xiong 1 , Jinrong Li 2
Affiliation
Rett syndrome is an X-linked dominant disorder, and the typical phenotype includes intractable epileptic seizures and severe mental retardation, in particular, a rapid regression in language and limited progress in psychomotor development. Premature breast and pubic hair development and advanced bone age are signs of precocious puberty (PP), defined as puberty occurring before 8 years of age in girls. There are rare reports about precious puberty associated with Rett syndrome. Herein, we report the case of a patient with Rett syndrome with precocious puberty. Her first signs of PP occurred 6 months prior to presentation (at 7.5 years old), and the laboratory measurements, including tests of bone age and gonadotropin-releasing hormone stimulation, were positive for PP. PP was controlled after treatment with leuprorelin 3.75 mg for one year. In addition, the genetic and phenotypic spectrum of previously reported cases of Rett syndrome with precocious puberty are reviewed and summarized.
中文翻译:
Rett综合征相关性早熟一例并文献复习。
Rett综合征是一种X连锁显性遗传病,典型表型包括顽固性癫痫发作和严重的智力低下,特别是语言快速退化和精神运动发育进展受限。过早的乳房和阴毛发育以及骨龄提前是性早熟 (PP) 的迹象,PP 被定义为女孩在 8 岁之前进入青春期。关于与 Rett 综合征相关的宝贵青春期的报道很少。在此,我们报告一例患有 Rett 综合征并伴有性早熟的患者。她的 PP 最初迹象出现在就诊前 6 个月(7.5 岁),包括骨龄和促性腺激素释放激素刺激测试在内的实验室测量结果对 PP 呈阳性。用亮丙瑞林 3.75 mg 治疗一年后,PP 得到控制。
更新日期:2021-11-01
中文翻译:
Rett综合征相关性早熟一例并文献复习。
Rett综合征是一种X连锁显性遗传病,典型表型包括顽固性癫痫发作和严重的智力低下,特别是语言快速退化和精神运动发育进展受限。过早的乳房和阴毛发育以及骨龄提前是性早熟 (PP) 的迹象,PP 被定义为女孩在 8 岁之前进入青春期。关于与 Rett 综合征相关的宝贵青春期的报道很少。在此,我们报告一例患有 Rett 综合征并伴有性早熟的患者。她的 PP 最初迹象出现在就诊前 6 个月(7.5 岁),包括骨龄和促性腺激素释放激素刺激测试在内的实验室测量结果对 PP 呈阳性。用亮丙瑞林 3.75 mg 治疗一年后,PP 得到控制。