Medical and social challenges awaiting adolescents with congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency is the commonest inherited cause of primary adrenal insufficiency. Adolescents living with CAH have unique challenges extending beyond hormonal control. This review summarises the diagnostic, therapeutic and psychosocial challenges facing adolescents living with CAH. Diagnostic challenges During puberty, diagnosing causes of hyperandrogenism may be complicated by activation of the hypothalamic-pituitary-gonadal axis, and distinguishing the other causes of hyperandrogenism is required. Therapeutic challenges Management of CAH requires a careful balance between suppressing adrenal androgen excess and avoiding glucocorticoid overtreatment, while preserving growth, fertility, bone, cardiovascular and metabolic health. Individualised treatment regimens are required with optimal doses guided by clinical response and biomarkers. During puberty, changes in cortisol metabolism and clearance, insulin resistance and androgen synthesis may complicate disease control, underlining the importance of frequent clinical review and dose adjustments. Novel therapeutic options are becoming available. Addressing the impact of prior childhood feminising genitoplasty on the adolescent girl living with CAH is essential. Psychosocial challenges Although overall health-related quality of life may be preserved, impairments in emotional, social and school functioning have been reported. Treatment burden, body image concerns, fertility-related anxiety, disclosure challenges and stigma may contribute to adverse lived experience and increased psychiatric morbidity. Transition and support towards self-management is a central part of adolescent care. Poor transition planning may worsen adherence, increase disease burden and further compromise psychosocial wellbeing. Recognition by clinicians of these diverse management challenges is important to direct multidisciplinary patient-centred care to optimise outcomes.