Clinical and hormonal features of selective follicle-stimulating hormone (FSH) deficiency due to FSH beta-subunit gene mutations in both sexes
Clinical and hormonal features of selective follicle-stimulating hormone (FSH) deficiency due to FSH beta-subunit gene mutations in both sexes
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DOI：
10.1016/j.fertnstert.2004.06.069
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发表时间：
2005-02-01
影响因子：
6.7
通讯作者：
Latronico, AC
中科院分区：
文献类型：
--
作者：
Berger, K;Souza, H;Latronico, AC
目的：报告一例选择性FSH缺乏的青春期女性患者的临床、激素和分子特征。此外，提供了以前病例的完整回顾，重点是激素方面。设计：临床研究。设置：大学医院。患者：一名16岁女孩，由于孤立性FSH缺乏而原发性闭经和乳房发育不良。干预（S）：GnRH刺激前后抽血和盆腔超声检查。主要结果测量（S）：促性腺激素和E-2 FSH β亚基基因的测量和测序结果：患者因原发性闭经和部分乳房发育（坦纳III）而转诊。她的基础和GnRH刺激的LH水平升高（分别为31 IU/L和98 IU/L），而FSH水平检测不到（
Objective: To report the clinical, hormonal, and molecular features of a female adolescent with selective FSH deficiency. In addition, a complete review of previous cases is provided, focusing on hormonal aspects.Design: Clinical study.Setting: University hospital.Patient(s): A 16-year-old girl with primary amenorrhea and poor breast development due to isolated FSH deficiency.Intervention(S): Blood drawing before and after GnRH stimulation and pelvic ultrasound examination.Main Outcome Measure(S): Gonadotropin and E-2 Measurements and sequencing of the FSH beta-subunit gene.Result(s): The patient was referred for primary amenorrhea and partial breast development (Tanner III). Her basal and GnRH-stimulated LH levels were elevated (31 IU/L and 98 IU/L, respectively), whereas her FSH levels were undetectable (