Serum 17-hydroxypregnenolone and 17-hydroxypregnenolone sulfate concentrations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
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.
Shimozawa
K
K
Department of Pediatrics, Faculty of Medicine, Tokyo Medical and Dental University, Japan.
Saisho
S
S
Yata
J
J
Kambegawa
A
A
D006907:17-alpha-Hydroxypregnenolone / Q000031:analogs & derivatives* / Q000097:blood*; D019326:17-alpha-Hydroxyprogesterone; D000284:Administration, Oral; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000188:drug therapy / Q000209:etiology / Q000378:metabolism*; D000375:Aging; D002648:Child; D002675:Child, Preschool; D003348:Cortisone / Q000031:analogs & derivatives / Q000627:therapeutic use; D006801:Humans; D006854:Hydrocortisone / Q000627:therapeutic use; D006908:Hydroxyprogesterones / Q000097:blood; D007223:Infant; D007231:Infant, Newborn; D011863:Radioimmunoassay; D013250:Steroid Hydroxylases / Q000172:deficiency*
D006908:Hydroxyprogesterones; C032535:17-hydroxypregnenolone sulfate; D006907:17-alpha-Hydroxypregnenolone; D019326:17-alpha-Hydroxyprogesterone; D013250:Steroid Hydroxylases; D003348:Cortisone; D006854:Hydrocortisone