Nonclassic 21-hydroxylase deficiency tied to cortisol, aldosterone secretion issues

  • J Clin Endocrinol Metab

  • Brian Richardson, PhD
  • Clinical Essentials
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Takeaway

  • Patients with nonclassic 21-hydroxylase deficiency have reduced peak serum cortisol after insulin hypoglycemia and elevated stimulated renin after sodium depletion.

Why this matters

  • This study suggests partial cortisol insufficiency and aldosterone secretion defects in this patient group, indicating that adrenal function assessment should be part of their clinical management plan.

Key results

  • When analyzed by chemiluminescent enzyme immunoassay, women with nonclassic 21-hydroxylase deficiency had lower peak serum cortisol concentration after hypoglycemia compared with control individuals (mean difference, −47 ng/mL; P=.0026).
  • 55% of women with nonclassic 21-hydroxylase deficiency and 100% of control individuals achieved peak serum cortisol >170 ng/mL (P=.0039).
  • Women with nonclassic 21-hydroxylase deficiency had higher stimulated renin concentration 24 hours after sodium depletion compared vs controls (mean difference, 28 mUI/L; P=.0044).

Study design

  • 20 women with nonclassic 21-hydroxylase deficiency carrying biallelic CYP21A2 mutations and with serum 17-hydroxyprogesterone (17OHP) >10 ng/mL after stimulation with tetracosactrin and 20 age- and BMI-matched healthy women with 17OHP
  • Funding: institutional funds.

Limitations

  • Small sample size.
  • Cohorts were not perfectly matched for age (mean difference, −1.77 years).