Deficit of 21 beta-hydroxylase. Clinico-functional parameters

The authors report the hormonal pictures of 5 young women with partial deficit of 21-beta-hydroxylase. They performed 17OH-progesterone, DHEA-S, plasma cortisol, free urinary cortisol, testosterone, ACTH and urinary 17KS assays. They then performed a suppression test by Desametazone and stimulus test by ACTH. The Authors stress the major role of 17OH progesterone, assayed in basal conditions and after ACTH stimulus, recalling the importance of early diagnosis. Authors also stress that in these patients testosterone is always significantly high.