Transition of Care from Childhood to Adulthood: Congenital Adrenal Hyperplasia.

Endocrine development Pub Date : 2018-01-01 Epub Date: 2018-06-08 DOI:10.1159/000487523
Anne Bachelot
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引用次数: 14

Abstract

Deficiency of the 21-hydroxylase enzyme is the most common form of congenital adrenal hyperplasia (CAH), accounting for more than 95% of the cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents and adults with CAH experience a number of complications, including short stature, obesity, infertility, impaired bone mineral density, and reduced quality of life. Transition from pediatric to adult care and management of long-term complications are challenging for both patients and practitioners. In adulthood, the aims of the medical treatment are to substitute cortisol and, when necessary, aldosterone deficiency, to ensure normal fertility, and to avoid the long-term consequences of glucocorticoid use on bone, metabolism, and cardiovascular risk. Recent data suggest that poor health status is likely to begin in adolescence and persist into adulthood, highlighting the importance of this time period in a patient's endocrine care. During transition from pediatric to adult specific care, a shift in treatment goals is thus needed. Successful transition from pediatric to adult health care requires a regular follow-up of patients by a multidisciplinary team including pediatric endocrinologists, urologists, gynecologists, psychiatrists, and adult endocrinologists. All of this could be included in a specific therapeutic education program regarding transition and/or CAH.

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从童年到成年护理的过渡:先天性肾上腺增生。
21-羟化酶缺乏是先天性肾上腺增生(CAH)最常见的形式,占95%以上的病例。随着新生儿筛查和激素替代疗法的出现,大多数患有CAH的儿童存活到成年。患有CAH的青少年和成人会出现许多并发症,包括身材矮小、肥胖、不孕、骨密度受损和生活质量下降。从儿科过渡到成人护理和管理的长期并发症是具有挑战性的患者和从业人员。在成年期,医学治疗的目的是替代皮质醇,必要时替代醛固酮缺乏,以确保正常的生育能力,并避免糖皮质激素对骨骼、代谢和心血管风险的长期影响。最近的数据表明,健康状况不佳可能从青春期开始,并持续到成年,这突出了这一时期对患者内分泌护理的重要性。在从儿童到成人的特殊护理过渡期间,治疗目标的转变是必要的。从儿科到成人医疗保健的成功过渡需要由包括儿科内分泌学家、泌尿科医生、妇科医生、精神科医生和成人内分泌学家在内的多学科团队对患者进行定期随访。所有这些都可以包含在关于过渡和/或CAH的特定治疗教育计划中。
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