CLINICAL AND METABOLIC VARIATIONS IN THE ADRENOGENITAL SYNDROME

[摘要] The evidence for a well-defined block in the biosynthesis of compound F in patients with congenital virilizing adrenal hyperplasia has been reviewed. The presence of large quantities of pregnanetriol in the urine of most patients with this disorder suggests an inability of the adrenal cortex to convert 17-hydnoxyprogesterone into compound F. A second site of the block in the biosynthesis of compound F has been demonstrated in a patient with this disorder complicated by hypertension. The conclusions regarding the newly proposed location of the disorder are based on the discovery of large quantities of compound S and its metabolites, in both the blood and urine, of a patient with virilization and hypertension. This compound had not been previously described in this syndrome, and its presence may point to the nature of the disorder in those forms of time syndrome associated with high blood pressure. Other abnormalities of the steroid pattern in this variant of the disease include the complete absence of 11-oxygenated 17-ketosteroids otherwise present in large quantities. It is not possible at the present time to explain the hypertension on the basis of the steroids described. However, remission of most manifestations of this disorder, including the hypertension and unusual steroid pattern, following treatment with compound F has been noted.

[学科分类] 儿科学