Then and Now: This Month in Endocrine History
In January 1951, Lawson Wilkins et al published their case series demonstrating the successful treatment of congenital adrenal hyperplasia with cortisone. Seven females and 3 males were treated with cortisone and urinary levels of 17-ketosteroids, 11-oxysteroids (corticosteroids), and “estroids” were measured. 17-ketosteroids and estroids were demonstrated to decrease dramatically (corticosteroids showed variable response). It was not yet clear whether cortisone could help with electrolyte disturbance or if deoxycorticosterone needed to be added.
Now, congenital adrenal hyperplasia is treated with a combination of hydrocortisone and fludrocortisone and urinary steroid measurements have been replaced with serum measurement of adrenal steroids by liquid chromatography/tandem mass spectrometry. Strategies to minimize virilization, encourage growth, and improve quality of life have been developed. Recently, diazoxide choline has been added as an adjuvant therapy to steroid replacement.