17-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH).
Two Prevalent CYP17 Mutations and Genotype-Phenotype Correlations in 24 Brazilian Patients with 17-Hydroxylase Deficiency.
Indeed, it carries out two enzymatic activities: the 17-hydroxylase and the 17,20-lyase activity.
This picture confirms that both the 17-hydroxylase and the 17,20-lyase activity are essential for gonadal steroidogenesis .
Adrenal myelolipoma in a woman with congenital 17-hydroxylase
Distinctive profile of the 17-hydroxylase
and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency.
As a result of the examinations, she was diagnosed with "male pseudohermaphroditism (17-hydroxylase
deficiency)." During this period, prednisolone 5 mg/day was administered due to adrenal insufficiency, and she has been followed-up in the clinic at regular intervals.
Congenital adrenal hyperplasia secondary to 17-hydroxylase
Diagnosis and treatment of 17-hydroxylase
(3,5) These associated adrenal pathologic conditions include adrenocortical hyperplasia, (3) adrenocortical adenomas, (3,5) adrenocortical carcinomas, (5) and endocrinologic dysfunctions, including Addison disease, (4) Conn syndrome, (5) 21-hydroxylase deficiency, (3) 17-hydroxylase
deficiency, (6) and ectopic corticotropin production.
deficiency (17OHD) is a very rare disorder characterized by glucocorticoid deficiency, hypergonadotropic hypogonadism, hypertension, and hypopotassemia.
deficiency (17-OHD), a rare cause of congenital adrenal hyperplasia, is associated with hypertension and remarkable hypokalemia.