Kassanos, "Congenital adrenal hyperplasia because of 21-hydroxylase
deficiency: a genetic disorder of interest to obstetricians and gynecologists," Obstetrical & Gynecological Survey, vol.
Predicting phenotype in steroid 21-hydroxylase
Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase
deficiency show functional features of adrenocortical tissue.
Adrenal hyperplasia, congenital, due to 21-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.
The most common form is 21-hydroxylase
deficiency, which is inherited in severe or mild forms.
The most common form is deficiency of the 21-hydroxylase
(21-OH) enzyme, accounting for > 90% of cases.
5,6 In NC-CAH, about 20-50% of 21-hydroxylase
activity is preserved, and it usually presents with a mild androgen excess in late childhood or during adolescence.
Diagnosis: 46 XX-CAH 21-hydroxylase
deficiency (Simple virilising variant) with ambiguous genitalia with proportionate short stature.
Nonclassical CAH results most commonly from a deficiency of 21-hydroxylase
that leads to accumulation of 17-OHP, which is then shunted into androgen synthesis (4).
ADRENAL AUTOIMMUNITY STEROID 21-HYDROXYLASE
ANTIBODY (21-0HAb) KITS
There were 64 female infants with classic 21-hydroxylase