Transition of care from childhood to adulthood: congenital adrenal hyperplasia
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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- Authors
- Bachelot, A.
- Corresponding author
- Bachelot, Anne
- ORCID
- Bachelot, Anne
- Venue
- Endocrine development
- Publisher
- S. Karger AG
- Published
- 2018
- Volume
- 33
- Pages
- 17-33
- ISSN
- 1421-7082 (ISSN-L)
- 1662-2979
- OpenAlex
- W2807227263
- Cited by
- 29
- References
- 0
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 6 · 2023: 4 · 2022: 7 · 2021: 5 · 2020: 1 · 2019: 2
- FWCI
- 2.69
- Type
- book chapter
- Language
- en
- Open access
- closed
- Locations
- Endocrine development (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Health Professions › Speech and Hearing › Adolescent and Pediatric Healthcare
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Keywords
- congenital adrenal hyperplasia, 21-hydroxylase deficiency, care transitions, transition to adult care, hormone replacement therapy, cortisol replacement, aldosterone deficiency, infertility, short stature, bone mineral density, glucocorticoid adverse effects, multidisciplinary care, patient education
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Adult, Child, Continuity of Patient Care, Female, Glucocorticoids, Humans, Male, Quality of Life, Hormone Replacement Therapy, Young Adult, Transition to Adult Care
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