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Management of a girl with delayed puberty and elevated gonadotropins

McGlacken-Byrne, Sinéad M; Achermann, John C; Conway, Gerard S; (2022) Management of a girl with delayed puberty and elevated gonadotropins. Journal of the Endocrine Society , Article bvac108. 10.1210/jendso/bvac108. (In press). Green open access

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Abstract

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 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 non-endocrine 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 (e.g., 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 three clinical vignettes of girls presenting with delayed puberty and hypergonadotropic amenorrhea and discuss their clinical management in the context of current literature and guidelines.

Type: Article
Title: Management of a girl with delayed puberty and elevated gonadotropins
Open access status: An open access version is available from UCL Discovery
DOI: 10.1210/jendso/bvac108
Publisher version: https://doi.org/10.1210/jendso/bvac108
Language: English
Additional information: © The Author(s) 2022. Published by Oxford University Press on behalf of the Endocrine Society. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: Turner syndrome, primary ovarian insufficiency, 46, XY DSD, ovary development, primary amenorrhea, delayed puberty, estrogen, support groups
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
URI: https://discovery.ucl.ac.uk/id/eprint/10152649
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