A 35-year-old African American female presents to the outpatient clinic with complaints of frequent headaches, blurry vision, and elevated blood pressure found during evaluation at her work site. She appears to have prominent coarse facial hair, a deep voice, and well-developed musculature. A physical exam reveals a blood pressure of 196/110 and moderate lower-extremity edema. Laboratory results reveal decreased cortisone and aldosterone, with elevated deoxycorticosterone.
Which enzyme is most likely deficient?
A 17-Alpha-hydroxylase
B 3-Beta-hydroxysteroid dehydrogenase
C 11-Beta-hydroxylase
D 21-Alpha-hydroxylase
E Aromatase
cccc) 11 beta hydroxylase converts:
1) 11-deoxycorticosterone ( a weak mineralocort.)-----> corticosterone
2) 11-deoxy cortisol--------> cortisol
excess diversion to androgen production.
I MEAN 11 B_HYDROXYLASE DEFICIENCY
oh god ...........
its cccc
Most know those enzymes def
Answer C
A)--17-Alpha-hydroxylase
Hypertension is the hallmark of this congenital adrenal hyperplasia disorder, but these patients are unable to produce sex hormones and glucocorticoids. Excess mineralocorticoids cause hypertension via sodium and water retention.
B 3-Beta-hydroxysteroid dehydrogenase
This enzyme metabolizes pregnenolone to progesterone. No sex hormones, glucocorticoids, or mineralocorticoids may be produced. Excretion of salts is prominent. Prognosis is poor.
C 11-Beta-hydroxylase
Virilization, hypertension, and cortisol deficit are the presenting factors in 11-beta-hydroxylase deficiency. Deoxycorticosterone is a mineralocorticoid that causes fluid retention despite aldosterone absence. Sex hormones are produced excessively, as the cortisol feedback needed to decrease ACTH production is lacking.
D 21-Alpha-hydroxylase
This type of deficiency is the most common congenital adrenal hyperplasia. Laboratory results should reveal decreased cortisone and aldosterone, but deoxycorticosterone should be diminished as well. Promotion of the pituitary-adrenal axis by ACTH promotes virilization by excess sex hormones. Hypotension is common in 21-alpha-hydroxylase deficiency.
E Aromatase
The hallmark of aromatase deficiency is ambiguous genitalia in 46, XX patients, with progressive virilization. In 46, XY patients, normal male genitalia are observed, but these individuals are very tall, possibly eunuchoid, and have an increased risk of osteoporosis. Hypertension has not been associated with aromatase deficiency.