Adrenal steroidogenesis has been studied in vivo in eleven patients aged 13-68 years with
21-hydroxylase deficiency, in one patient with
11 beta-hydroxylase deficiency and in ten female control subjects. Serum levels of the delta 5 3 beta-
hydroxysteroids,
pregnenolone (Pe),
17 alpha-hydroxypregnenolone (17Pe),
dehydroepiandrosterone (
DHEA) and
androstenediol (Adiol) and their delta 4 3-keto counterparts,
progesterone (Po),
17 alpha-hydroxyprogesterone (17Po)
androstenedione (Adione) and
testosterone as well as of
11-deoxycortisol and
cortisol were measured during acute adrenal suppression with
dexamethasone followed by stimulation with synthetic 1-24
ACTH. In the seven patients with
21-hydroxylase deficiency who were on adequate
glucocorticoid therapy, grossly exaggerated responses of 17Po and Po to
ACTH were nevertheless preserved. In contrast, there was a grossly subnormal response of 17Pe,
DHEA and Adiol to
ACTH, and low basal levels of
DHEA-sulphate. In the untreated patients the response of 17Pe and
DHEA was normal. The Adione response was exaggerated in untreated and normal in treated cases. Similar findings obtained in the patient with
11 beta-hydroxylase deficiency who was studied after 6 weeks without replacement
therapy. Our findings demonstrate that production of adrenal
steroids that are associated with the adrenarche is not exaggerated in untreated CAH, and is grossly suppressed in treated cases. These findings are compatible with the hypothesis that intra-adrenal
cortisol may initiate and/or maintain production of the delta 5
steroids by the zona reticularis that occurs in the human adrenarche.