This important observation, together with the lack of mutation in CYP21A2, encouraged us to reconsider a diagnosis of 21-hydroxylase
Patients with classic 21-hydroxylase
deficiency and salt wasting require mineralocorticoid replacement.
High 17-OH-P levels suggesting 21-hydroxylase
deficiency was observed in 37.5% of the BD patients with prominent acne, and just one out of 15 AS patients with acne also had high stimulated 17-OH-P levels.
Baskin et al., "Congenital adrenal hyperplasia due to steroid 21-hydroxylase
deficiency: an endocrine society clinical practice guideline," The Journal of Clinical Endocrinology & Metabolism, vol.
Not only does the diagnosis allow for proper treatment, like corticosteroid replacement for girls with 21-hydroxylase
deficiency (210HD), but also for the opportunity to counsel the family about the natural history of the disorder and the statistics about sex steroid production and sexual maturation, fertility, risk of gonadal malignancy, and other associated conditions.
deficiency constitutes most of salt-depleting congenital adrenal hyperplasia (CAH) cases in newborns.
More than 95% of all cases of CAH are due to 21-hydroxylase
deficiency (21-OHD) resulting from defects in the steroid 21-hydroxylase
The most common form of CAH is caused by mutations in C4P21A2, the gene encoding the adrenal steroid 21-hydroxylase
To the Editor: Nonclassic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase
deficiency (21-OHD) is one of the most common autosomal recessive disorders.
(1965) Spectrophotometric properties of a Tritonclarified steroid 21-hydroxylase
system of adrenocortical microsomes.
For instance, the company's steroid 21-hydroxylase
antibody (21-0HAb) test kit may be useful as an aid in the diagnosis of autoimmune adrenal disease, whether expressed as autoimmune Addison's Disease or Addison's Disease as part of the more complex autoimmune polyglandular syndrome (APS), Type I or II.
Unilateral testicular enlargement resulting from inapparent 21-hydroxylase