Pediatric Endocrinology, Department of Women's and Children's Health Karolinska Institutet, and Department of Pediatric Endocrinology and Inborn Errors of Metabolism, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.
Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, Royal Hospital for Children, Glasgow, UK.
Eur J Endocrinol. 2022 Apr 21;186(6):G9-G49. doi: 10.1530/EJE-22-0073.
An Endo-European Reference Network guideline initiative was launched including 16 clinicians experienced in endocrinology, pediatric and adult and 2 patient representatives. The guideline was endorsed by the European Society for Pediatric Endocrinology, the European Society for Endocrinology and the European Academy of Andrology. The aim was to create practice guidelines for clinical assessment and puberty induction in individuals with congenital pituitary or gonadal hormone deficiency. A systematic literature search was conducted, and the evidence was graded according to the Grading of Recommendations, Assessment, Development and Evaluation system. If the evidence was insufficient or lacking, then the conclusions were based on expert opinion. The guideline includes recommendations for puberty induction with oestrogen or testosterone. Publications on the induction of puberty with follicle-stimulation hormone and human chorionic gonadotrophin in hypogonadotropic hypogonadism are reviewed. Specific issues in individuals with Klinefelter syndrome or androgen insensitivity syndrome are considered. The expert panel recommends that pubertal induction or sex hormone replacement to sustain puberty should be cared for by a multidisciplinary team. Children with a known condition should be followed from the age of 8 years for girls and 9 years for boys. Puberty induction should be individualised but considered at 11 years in girls and 12 years in boys. Psychological aspects of puberty and fertility issues are especially important to address in individuals with sex development disorders or congenital pituitary deficiencies. The transition of these young adults highlights the importance of a multidisciplinary approach, to discuss both medical issues and social and psychological issues that arise in the context of these chronic conditions.
一个欧洲内分泌学会参考网络指南倡议启动，包括 16 名在内分泌学、儿科和成人方面经验丰富的临床医生和 2 名患者代表。该指南得到了欧洲儿科内分泌学会、欧洲内分泌学会和欧洲男科学会的认可。目的是为先天性垂体或性腺激素缺乏的个体的临床评估和青春期诱导制定实践指南。进行了系统的文献检索，并根据推荐分级、评估、发展和评估系统对证据进行分级。如果证据不足或缺乏，则结论基于专家意见。该指南包括雌激素或睾酮诱导青春期的建议。审查了促性腺激素和人绒毛膜促性腺激素诱导促性腺激素低下性性腺功能减退症青春期的出版物。考虑了克氏综合征或雄激素不敏感综合征个体的具体问题。专家组建议，应通过多学科团队来照顾青春期诱导或维持青春期的性激素替代治疗。已知病情的儿童应从女孩 8 岁和男孩 9 岁开始随访。青春期诱导应个体化，但应在女孩 11 岁和男孩 12 岁时考虑。性发育障碍或先天性垂体功能减退个体的青春期和生育问题的心理方面尤为重要。这些年轻人的过渡突出了多学科方法的重要性，既要讨论这些慢性疾病背景下出现的医学问题，也要讨论社会和心理问题。
