Korean J Pediatr.  2017 Feb;60(2):31-37. 10.3345/kjp.2017.60.2.31.

Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care

• Choi JH
• Yoo HW

• KMID: 2371375
• DOI: http://doi.org/10.3345/kjp.2017.60.2.31

Abstract

Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of 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, tumor, osteoporosis, and reduced quality of life. Transition from pediatric to adult care and management of long-term complications are challenging for both patients and health-care providers. Psychosocial issues frequently affect adherence to glucocorticoid treatment. Therefore, the safe transition of adolescents to adult care requires regular follow-up of patients by a multidisciplinary team including pediatric and adult endocrinologists. The major goals for management of adults with 21-hydroxylase deficiency are to minimize the long-term complications of glucocorticoid therapy, reduce hyperandrogenism, prevent adrenal or testicular adrenal rest tumors, maintain fertility, and improve quality of life. Optimized medical or surgical treatment strategies should be developed through coordinated care, both during transition periods and throughout patients' lifetimes. This review will summarize current knowledge on the management of adults with CAH, and suggested appropriate approaches to the transition from pediatric to adult care.

Keyword

Adult; Congenital adrenal hyperplasia; 21-Hydroxylase deficiency

MeSH Terms

Adolescent
Adrenal Hyperplasia, Congenital*
Adrenal Rest Tumor
Adult
Child
Fertility
Follow-Up Studies
Hormone Replacement Therapy
Humans
Hyperandrogenism
Infant, Newborn
Infertility
Mass Screening
Obesity
Osteoporosis
Quality of Life
Steroid 21-Hydroxylase
Transition to Adult Care*
Steroid 21-Hydroxylase