Serum 17-Hydroxypregnenolone and 17-Hydroxypregnenolone Sulfate Concentrations in Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.

Abstract

Serum concentrations of 17-hydroxypregnenolone, 17-hydroxypregnenolone sulfate and 17-hydroxyprogesterone were measured simultaneously in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, using a combined radioimmunoassay method. All these precursor steroids were found to be markedly elevated in the sera of untreated patients with a salt-losing form of the disease, whereas, in untreated patients with a simple virilizing form, only the concentration of unconjugated steroids was increased and the 17-hydroxypregnenolone sulfate concentration remained within the normal range.Among the patients with a salt-losing form under maintenance therapy, these steroids were all still significantly increased in those on insufficient control, whereas only 17-hydroxyprogesterone was significantly but slightly increased in those on adequate control.Although the mechanism whereby the serum 17-hydroxypregnenolone sulfate concentration is not increased in the untreated simple virilizers is unknown, both a milder degree of 21-hydroxylase deficiency and a role of 17-hydroxypregnenolone sulfate in adrenal steroid production as a kind of supplier are suggested as possible explanations, especially in the neonatal period and early infancy. Thus, this study showed the serum concentrations of 17-hydroxypregnenolone and its sulfate together with 17-hydroxyprogesterone in patients with 21-hydroxylase deficiency in various conditions. It is widely recognized that 17-hydroxyprogesterone (17-OH-progesterone) which is a substrate for adrenal 21-hydroxylase is markedly increased in the serum of untreated and insufficiently controlled patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OH deficiency). Therefore, the measurement of 17-OH-progesterone has been applied to diagnosis and the evaluation of manage-

Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis

“…In our patients, urine sample volumes did not suffice to take exact structural elucidation of the BAlcs beyond confirmation of their conjugation states. Whether the preferential sulfation of BAlcs is ontogenic, that is, a function of increased sulfation in early life, as is typical for steroid hormones (48,49), or contributes per se to cholestatic liver disease via altered BA synthesis and metabolism is speculation. Ions at m/z 481, 607, and 657 appeared to be associated with the poorest outcome and could mark poor prognosis.…”

Age Relationships and Sex Differences in Serum Levels of Pregnenolone and 17-Hydroxypregnenolone in Normal Subjects

“…The age-related changes in 17-hydroxypregnenolone have been well monitored in infancy, childhood and puberty (14)(15)(16) but to our knowledge a complex and detailed study of age-and sex-related changes including childhood, puberty, adulthood and senescence has not been carried out. In this paper, we report the serum levels of 17-hydroxypregnenolone and pregnenolone from childhood to senescence in representative groups of both sexes.…”