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青少年高促性腺激素性原发性闭经的鉴别诊断思路和临床处理策略

Differential diagnosis and clinical management strategy for adolescent primary amenorrhea with elevated gonadotropin
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摘要 根据青少年高促性腺激素性原发性闭经的病因分析,染色体异常约占半数,故有必要行染色体核型检查。当存在额外小标记性染色体(sSMC)时,需警惕隐匿性性腺肿瘤风险,应提高追查Y染色体关键成分的临床意识;当检测到Y染色体物质时,必须预防性切除性腺。青少年阶段的用药应个体化,雌激素治疗原发性闭经时应注意剂量选择,适时适量补充雌激素可以促进身高及第二性征发育。替勃龙对高促性腺激素性原发性闭经患者促进身高有一定帮助。 According to the etiological analysis of hypergonadotropin-induced primary amenorrhea in adolescents,approximately half of the cases are attributed to chromosomal abnormalities.Therefore,it is imperative to conduct chromosomal karyotype examinations.The extra small supernumerary marker chromosome(sSMC)increases the risk of occult tumors,necessitating heightened clinical vigilance and targeted screening for Y chromosome components.If Y chromosome material is detected,prophylactic gonadectomy must be considered.Pharmacotherapy during adolescence should be individualized,with particular attention to the dosing of estrogen therapy for primary amenorrhea.Timely and appropriate estrogen supplementation can facilitate optimal height development and secondary sexual characteristics.Additionally,tibolone has been shown to promote height gain in patients with hypergonadotropin-induced primary amenorrhea.
作者 陈永兰 邓姗 CHEN Yong-lan;DENG Shan(Department of Obstetrics&Gynecology,Guiping People’s Hospital,Guiping 537200;Department of Obstetrics&Gynecology,National Clinical Research Center for Obstetric&Gynecologic Diseases,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730)
出处 《生殖医学杂志》 2025年第8期1102-1107,共6页 Journal of Reproductive Medicine
基金 国家临床重点专科建设项目(U114000)。
关键词 高促性腺激素性原发性闭经 标记性染色体 性腺肿瘤 激素补充治疗 替勃龙 Primary amenorrhea with elevated gonadotropin Marker chromosome Gonadal tumors Hormone replacement therapy Tibolone
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