Survival without treatment of patients with classic and nonclassic 21-hydroxylase deficiency: a multicenter retrospective cohort study

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Abstract
Context: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is characterized by cortisol and aldosterone deficiency and hyperandrogenism. Historically, patients have been classified into salt-wasting (SW), simple-virilizing (SV), and the less severe nonclassic (NC) form. Standard treatment for patients with classic 21OHD (SW and SV) consists of glucocorticoid and sometimes mineralocorticoid replacement to prevent adrenal crises. Interestingly, some patients were untreated due to delayed diagnosis or stopped treatment and survived without overt signs of adrenal insufficiency. Objective: This work describes a cohort of patients with 21OHD who survived without glucocorticoid treatment, with particular focus on sickness, surgical interventions, and adrenal crises. Methods: A multicenter, retrospective, open cohort observational study was conducted. Patients with classic (SW, n = 29; SV, n = 23) and NC (n = 24) 21OHD, with a median age of 11.0 and 21.7 years, respectively, were included. Results: Patients with classic and NC 21OHD were untreated with glucocorticoid for 8.7 years (IQR 4.7-14.3) and 28.1 years (IQR 12.2-39.0), respectively (P < .001). Of patients with classic 21OHD, 48% never received glucocorticoid treatment. Remarkably, 71% of them did not experience adrenal crises during the untreated period, even during illness or surgical interventions. In the NC 21OHD group, 21% was never treated with glucocorticoid; 2 patients (8.3%) experienced an adrenal crisis, both had an I2 splice/P31L genotype. All adrenal crises, except 1, were reported before age 7 years. Conclusion: Study of untreated patients with 21OHD provides a valuable opportunity to further explore mechanisms that influence glucocorticoid activity and elucidate disease variability in 21OHD.
Funding Information
  • International Fundraising Congenital Adrenal Hyperplasia

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