McGlacken-Byrne Sinéad M, Achermann John C, Conway Gerard S
Institute for Women's Health, University College London, London WC1E 6AU, UK.
Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.
J Endocr Soc. 2022 Jul 8;6(9):bvac108. doi: 10.1210/jendso/bvac108. eCollection 2022 Sep 1.
A girl presenting with delayed puberty and elevated gonadotropins may have a range of conditions such as Turner syndrome (TS), primary ovarian insufficiency (POI), and 46,XY disorders of sexual development (DSD). An organized and measured approach to investigation can help reach a timely diagnosis. Management of young people often requires specialist multidisciplinary input to address the endocrine and nonendocrine features of these complex conditions, as well as the psychological challenges posed by their diagnosis. Next-generation sequencing within the research setting has revealed several genetic causes of POI and 46,XY DSD, which may further facilitate an individualized approach to care of these young people in the future. Pubertal induction is required in many and the timing of this may need to be balanced with other issues specific to the condition (eg, allowing time for information-sharing in 46,XY DSD, optimizing growth in TS). Shared decision-making and sign-posting to relevant support groups from the outset can help empower young people and their families to manage these conditions. We describe 3 clinical vignettes of girls presenting with delayed puberty and hypergonadotropic amenorrhea and discuss their clinical management in the context of current literature and guidelines.
一名出现青春期延迟和促性腺激素升高的女孩可能患有一系列疾病，如特纳综合征（TS）、原发性卵巢功能不全（POI）和46,XY性发育障碍（DSD）。一种有条理且有分寸的调查方法有助于及时做出诊断。对青少年的管理通常需要多学科专家的参与，以解决这些复杂疾病的内分泌和非内分泌特征，以及诊断所带来的心理挑战。研究环境中的下一代测序已经揭示了POI和46,XY DSD的几种遗传原因，这可能在未来进一步促进对这些青少年进行个性化护理。许多情况下需要进行青春期诱导，其时机可能需要与该疾病的其他特定问题相平衡（例如，在46,XY DSD中留出信息共享的时间，在TS中优化生长）。从一开始就进行共同决策并向相关支持小组提供指引，有助于增强青少年及其家庭应对这些疾病的能力。我们描述了3例出现青春期延迟和高促性腺激素性闭经的女孩的临床案例，并结合当前文献和指南讨论她们的临床管理。
