Abstract：
OBJECTIVE: To investigate the clinical features and genetic etiology of a case of Turner syndrome (TS) with rapidly progressive puberty.
METHODS: A child who had presented at the Pediatric Endocrinology Clinic of the Shenzhen People\'s Hospital on January 19, 2022 was selected as the study subject. Clinical data of the child were collected. Peripheral blood sample of the child was subjected to chromosomal microarray analysis (CMA) and multiple ligation-dependent probe amplification (MLPA). Previous studies related to TS with rapidly progressive puberty were retrieved from the CNKI, Wanfang Data Knowledge Service Platform, Boku, CBMdisc and PubMed databases with Turner syndrome and rapidly progressive puberty as the keywords. The duration for literature retrieval was set from November 9, 2021 to May 31, 2022. The clinical characteristics and karyotypes of the children were summarized.
RESULTS: The child was a 13-year-and-2-month-old female. She was found to have breast development at 9, short stature at 10, and menarche at 11. At 13, she was found to have a 46,X,i(X)(q10) karyotype. At the time of admission, she had a height of 143.5 cm (< P3), with 6 ~ 8 nevi over her face and right clavicle. She also had bilateral simian creases but no saddle nasal bridge, neck webbing, cubitus valgus, shield chest or widened breast distance. She had menstruated for over 2 years, and her bone age has reached 15.6 years. CMA revealed that she had a 58.06 Mb deletion in the Xp22.33p11.1 region and a 94.49 Mb duplication in the Xp11.1q28 region. MLPA has confirmed monosomy Xp and trisomy Xq. A total of 13 reports were retrieved from the CNKI, Wanfang Data Knowledge Service Platform, Boku, CBMdisc and PubMed databases, which had included 14 similar cases. Analysis of the 15 children suggested that their main clinical manifestations have included short stature and growth retardation, and their chromosomal karyotypes were mainly mosaicisms.
CONCLUSIONS: The main clinical manifestations of TS with rapidly progressive puberty are short stature and growth retardation. Deletion in the Xp22.33p11.1 and duplication in the Xp11.1q28 probably underlay the TS with rapid progression in this child, which has provided a reference for clinical diagnosis and genetic counselling for her.
METHODS: A child who had presented at the Pediatric Endocrinology Clinic of the Shenzhen People\'s Hospital on January 19, 2022 was selected as the study subject. Clinical data of the child were collected. Peripheral blood sample of the child was subjected to chromosomal microarray analysis (CMA) and multiple ligation-dependent probe amplification (MLPA). Previous studies related to TS with rapidly progressive puberty were retrieved from the CNKI, Wanfang Data Knowledge Service Platform, Boku, CBMdisc and PubMed databases with Turner syndrome and rapidly progressive puberty as the keywords. The duration for literature retrieval was set from November 9, 2021 to May 31, 2022. The clinical characteristics and karyotypes of the children were summarized.
RESULTS: The child was a 13-year-and-2-month-old female. She was found to have breast development at 9, short stature at 10, and menarche at 11. At 13, she was found to have a 46,X,i(X)(q10) karyotype. At the time of admission, she had a height of 143.5 cm (< P3), with 6 ~ 8 nevi over her face and right clavicle. She also had bilateral simian creases but no saddle nasal bridge, neck webbing, cubitus valgus, shield chest or widened breast distance. She had menstruated for over 2 years, and her bone age has reached 15.6 years. CMA revealed that she had a 58.06 Mb deletion in the Xp22.33p11.1 region and a 94.49 Mb duplication in the Xp11.1q28 region. MLPA has confirmed monosomy Xp and trisomy Xq. A total of 13 reports were retrieved from the CNKI, Wanfang Data Knowledge Service Platform, Boku, CBMdisc and PubMed databases, which had included 14 similar cases. Analysis of the 15 children suggested that their main clinical manifestations have included short stature and growth retardation, and their chromosomal karyotypes were mainly mosaicisms.
CONCLUSIONS: The main clinical manifestations of TS with rapidly progressive puberty are short stature and growth retardation. Deletion in the Xp22.33p11.1 and duplication in the Xp11.1q28 probably underlay the TS with rapid progression in this child, which has provided a reference for clinical diagnosis and genetic counselling for her.
摘要：
目的：探讨1例快速进展性青春期Turner综合征(TS)的临床特点及遗传学病因。
方法：选取2022年1月19日在深圳市人民医院儿科内分泌科门诊就诊的儿童作为研究对象。收集患儿的临床资料。对儿童的外周血样品进行染色体微阵列分析（CMA）和多重连接依赖性探针扩增（MLPA）。从CNKI检索到与快速进行性青春期TS相关的先前研究，万方数据知识服务平台,Boku,CBMdisc和PubMed数据库以特纳综合征和快速进行性青春期为关键词。文献检索的期限为2021年11月9日至2022年5月31日。总结儿童的临床特点和核型。
结果：这个孩子是一个13岁2个月大的女性。发现她在9岁时乳房发育，10岁时身材矮小，11岁时初潮。13岁时，她被发现患有46，X，i(X)(q10)核型。在录取的时候,她的身高为143.5厘米（结论：青春期快速进展的TS主要临床表现为身材矮小和生长迟缓。Xp22.33p11.1中的删除和Xp11.1q28中的重复可能是TS的基础，为临床诊断和遗传咨询提供了参考。
方法：选取2022年1月19日在深圳市人民医院儿科内分泌科门诊就诊的儿童作为研究对象。收集患儿的临床资料。对儿童的外周血样品进行染色体微阵列分析（CMA）和多重连接依赖性探针扩增（MLPA）。从CNKI检索到与快速进行性青春期TS相关的先前研究，万方数据知识服务平台,Boku,CBMdisc和PubMed数据库以特纳综合征和快速进行性青春期为关键词。文献检索的期限为2021年11月9日至2022年5月31日。总结儿童的临床特点和核型。
结果：这个孩子是一个13岁2个月大的女性。发现她在9岁时乳房发育，10岁时身材矮小，11岁时初潮。13岁时，她被发现患有46，X，i(X)(q10)核型。在录取的时候,她的身高为143.5厘米（
