Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, UK.
Department of Paediatric Endocrinology, Royal London Children's Hospital, Barts Health NHS Trust, London, UK.
J Pediatr Endocrinol Metab. 2023 Nov 24;37(1):1-7. doi: 10.1515/jpem-2023-0407. Print 2024 Jan 29.
Patients with congenital hypogonadism will encounter many health care professionals during their lives managing their health needs; from antenatal and infantile periods, through childhood and adolescence, into adult life and then old age. The pubertal transition from childhood to adult life raises particular challenges for diagnosis, therapy and psychological support, and patients encounter many pitfalls. Many patients with congenital hypogonadism and delayed or absent puberty are only diagnosed and treated after long diagnostic journeys, and their management across different centres and countries is not well standardised. Here we reconsider the management of pubertal delay, whilst addressing problematic diagnostic issues and highlighting the limitations of historic pubertal induction protocols - from the perspective of both an adult and a paediatric endocrinologist, dealing in our everyday work with the long-term adverse consequences to our hypogonadal patients of an incorrect and/or late diagnosis and treatment in childhood.
患有先天性性腺功能减退症的患者在其一生中会遇到许多医疗保健专业人员来满足他们的健康需求；从产前和婴儿期，到儿童期和青春期，再到成年期，然后是老年期。从儿童期到成年期的青春期过渡给诊断、治疗和心理支持带来了特殊的挑战，患者会遇到许多陷阱。许多患有先天性性腺功能减退症和青春期延迟或缺失的患者，只有在漫长的诊断过程后才被诊断和治疗，他们在不同的中心和国家的管理并没有得到很好的标准化。在这里，我们重新考虑青春期延迟的管理，同时解决有问题的诊断问题，并强调历史青春期诱导方案的局限性——从成人和儿科内分泌学家的角度出发，在日常工作中处理由于儿童时期的错误和/或延迟诊断和治疗而对我们的性腺功能减退患者产生的长期不良后果。
