Current and Future Perspectives on Clinical Management of Classic 21-Hydroxylase Deficiency

The document discusses the challenges and considerations in treating classic 21-hydroxylase deficiency (21OHD), a condition that requires careful glucocorticoid dosage management. Insufficient treatment can lead to adrenal insufficiency and potentially life-threatening adrenal crisis, while excess can cause issues like precocious pubertal growth, virilization, infertility, and iatrogenic Cushing’s syndrome. The treatment dilemma lies in the fact that physiological dosage glucocorticoid supplementation doesn't sufficiently suppress ACTH, leading to adrenal androgen excess. Therefore, the window for appropriate treatment is narrower than other types of adrenal insufficiency. Proper management requires a comprehensive understanding of the patient's needs according to their life stage and sex, with special attention needed for 46,XX female patients who need to be managed as differences in sex development (DSD). The document also mentions the potential of recently developed agents, Chronocort and Crinecerfont, in the treatment of 21OHD.