Anna Nordenström , Alessandra Mangone , Giovanna Mantovani
{"title":"激素替代对性发育障碍的长期影响。","authors":"Anna Nordenström , Alessandra Mangone , Giovanna Mantovani","doi":"10.1016/j.beem.2025.102022","DOIUrl":null,"url":null,"abstract":"<div><div>Disorders of sex development, DSD, are in the majority of cases caused by alterations in the gonadal or adrenal function that affect steroid hormone synthesis or action. Gonadal deficiencies result in a need for testosterone or estradiol replacement to achieve pubertal development as well as for continuous life-long replacement with sex hormones. In cases with adrenal enzyme deficiencies, glucocorticoid and sometimes mineralocorticoid replacement may be required to normalize the hormonal situation. Long-term outcomes related to growth, bone mineral density, cardiovascular and metabolic health, as well as psychosocial wellbeing, are increasingly being reported, both in relation to different treatment strategies and as a consequence of insufficient or absent treatment. Transition from pediatric to adult care is a vulnerable period which needs to be organized and individually tailored to ensure lifelong treatment and optimized general health. Individuals with a DSD should be seen by multidisciplinary teams at all ages, for diagnostic evaluation, for treatment and for long-term clinical follow-up.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 4","pages":"Article 102022"},"PeriodicalIF":6.1000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Hormone replacement in disorders of sex development, and long-term effects\",\"authors\":\"Anna Nordenström , Alessandra Mangone , Giovanna Mantovani\",\"doi\":\"10.1016/j.beem.2025.102022\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Disorders of sex development, DSD, are in the majority of cases caused by alterations in the gonadal or adrenal function that affect steroid hormone synthesis or action. Gonadal deficiencies result in a need for testosterone or estradiol replacement to achieve pubertal development as well as for continuous life-long replacement with sex hormones. In cases with adrenal enzyme deficiencies, glucocorticoid and sometimes mineralocorticoid replacement may be required to normalize the hormonal situation. Long-term outcomes related to growth, bone mineral density, cardiovascular and metabolic health, as well as psychosocial wellbeing, are increasingly being reported, both in relation to different treatment strategies and as a consequence of insufficient or absent treatment. Transition from pediatric to adult care is a vulnerable period which needs to be organized and individually tailored to ensure lifelong treatment and optimized general health. Individuals with a DSD should be seen by multidisciplinary teams at all ages, for diagnostic evaluation, for treatment and for long-term clinical follow-up.</div></div>\",\"PeriodicalId\":8810,\"journal\":{\"name\":\"Best practice & research. Clinical endocrinology & metabolism\",\"volume\":\"39 4\",\"pages\":\"Article 102022\"},\"PeriodicalIF\":6.1000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Best practice & research. Clinical endocrinology & metabolism\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1521690X25000557\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Best practice & research. Clinical endocrinology & metabolism","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1521690X25000557","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Hormone replacement in disorders of sex development, and long-term effects
Disorders of sex development, DSD, are in the majority of cases caused by alterations in the gonadal or adrenal function that affect steroid hormone synthesis or action. Gonadal deficiencies result in a need for testosterone or estradiol replacement to achieve pubertal development as well as for continuous life-long replacement with sex hormones. In cases with adrenal enzyme deficiencies, glucocorticoid and sometimes mineralocorticoid replacement may be required to normalize the hormonal situation. Long-term outcomes related to growth, bone mineral density, cardiovascular and metabolic health, as well as psychosocial wellbeing, are increasingly being reported, both in relation to different treatment strategies and as a consequence of insufficient or absent treatment. Transition from pediatric to adult care is a vulnerable period which needs to be organized and individually tailored to ensure lifelong treatment and optimized general health. Individuals with a DSD should be seen by multidisciplinary teams at all ages, for diagnostic evaluation, for treatment and for long-term clinical follow-up.
期刊介绍:
Best Practice & Research Clinical Endocrinology & Metabolism is a serial publication that integrates the latest original research findings into evidence-based review articles. These articles aim to address key clinical issues related to diagnosis, treatment, and patient management.
Each issue adopts a problem-oriented approach, focusing on key questions and clearly outlining what is known while identifying areas for future research. Practical management strategies are described to facilitate application to individual patients. The series targets physicians in practice or training.