What are the long-term monitoring requirements for patients diagnosed with CAH?

Long-term monitoring requirements for patients diagnosed with congenital adrenal hyperplasia (CAH) include:

• Regular ongoing reviews with an appropriate specialist team to assess clinical status and medication management ¹.
• For children and young people under 16 years, appointments should be offered at least every 6 months, with at least one face-to-face annual review to measure height and weight and adjust glucocorticoid and mineralocorticoid doses accordingly ¹.
• Adjust the frequency of reviews based on clinical needs, growth phases (including puberty), changes in personal or family circumstances, transition to adult services, medication adherence concerns, or vulnerability ¹.
• During reviews, assess psychological wellbeing, medication adherence, understanding of sick-day rules, frequency of adrenal crises, and signs of glucocorticoid under- or over-replacement, aiming for physiological glucocorticoid dosing ¹.
• Monitor for signs of mineralocorticoid under- or over-replacement, including symptoms like light-headedness, salt craving, swollen ankles, or hypertension, and consider measuring renin to adjust fludrocortisone dose if needed ¹.
• Offer measurements including blood pressure (lying and standing), electrolytes, HbA1c, bone density (at least once within 5 years after diagnosis in adults), and lipid profile to aid clinical decision-making ¹.
• For children and young people, monitor growth parameters, progression through puberty, menstrual frequency if relevant, bone age (via X-ray), and bone density after growth completion or if fractures occur ¹.
• Provide education and management plans to patients and carers, including emergency hydrocortisone injection kits and advice on dose adjustments during illness, stress, or lifestyle changes ¹,².