Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders characterized by impaired cortisol biosynthesis. The most common form of CAH is due to 21-hydroxylase deficiency and there is a wide range of phenotypes. The challenge in management of CAH in childhood is promotion of normal growth and development. The morbidities associated with currently available therapeutic regimens are related to glucocorticoid and/or androgen excess, intertwined with the difficulty of achieving a balance between over- or under-treatment. Once linear growth is completed, the management of CAH focuses on coordination of health care and prevention of long-term complications such as obesity, infertility, osteoporosis, and metabolic syndrome.

A multidisciplinary team approach, including endocrinologists (pediatric and adult), endocrine nurse specialists (pediatric and adult), geneticist, urologist, gynecologist, psychologist, social worker, and nutritionist is recommended to optimize the health outcomes of the young adult and their transition to adult service. The endocrine nurse specialist often assumes the role of coordinator in order to facilitate communication between the pediatric and adult teams and the young adult/family to ensure a smooth transition of care, as well as to reduce fragmentation of care. The role of endocrine specialist nurses also includes education and advice to the young adult about achieving independence in the care of their medical condition, which includes planning for emergency care and travel, and moving away from parental home. In addition the role of the nurse involves ongoing assessment of response to changes in treatment, discussion about issues related to sexuality, and education and counseling about risk taking behaviors. Future studies are needed to identify effective intervention models for health promotion in the care of the young adult with CAH that include outcome measures such as quality of life, patient satisfaction, and cost effectiveness.