When should I refer a patient with CAH to an endocrinologist for further management?

Refer a patient with congenital adrenal hyperplasia (CAH) to an endocrinologist for further management:

• Urgently if the patient is acutely unwell or suspected to be in adrenal crisis, especially in children and young people under 16 years, as emergency management is critical.
• For all patients diagnosed with CAH, to initiate and monitor corticosteroid replacement therapy, including glucocorticoids and mineralocorticoids as appropriate.
• When initial serum cortisol levels are low (below 150 nmol/L) or uncertain (150-300 nmol/L) and repeat testing or specialist interpretation is needed.
• For ongoing management including dose adjustments during physiological stress, growth monitoring in children, and assessment of signs of under- or over-replacement of glucocorticoids and mineralocorticoids.
• During transitions such as from paediatric to adult services, or when significant life events occur that may affect management.

In summary, referral to endocrinology should occur at diagnosis, during acute illness, for interpretation of diagnostic tests, and for ongoing specialist management to optimize treatment and monitor complications in CAH patients.

References: NICE NG243