A standard dose adrenocorticotropic hormone (ACTH) test (30 [micro]g/kg/dose) revealed an inadequate stimulated cortisol and high 17OHP levels, suggesting simple virilising congenital adrenal hyperplasia (CAH) likely due to 21-hydroxylase
deficiency (Table 1).
The most common cause is CAH due to 21-hydroxylase
deficiency (95%).22 Gonads are symmetrical ovaries and uterus is present.
Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase
deficiency: An Endocrine society Clinical Practice Guideline.
** If elevated, but <150 ng/dL (5.2 nmol/L), most likely PCOS, however, may consider testing 17-hydroxyprogesterone to rule-out nonclassic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase
deficiency (see below).
5, 2018 (HealthDay News) -- Best practices have been updated for screening and managing congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase
Approximately 95% of cases of CAH are due to deficiency of enzymes 21-hydroxylase
(21-OH) which catalyzes the conversion of progesterone and 17-hydroxyprogesterone (17-OXP) to deoxy-corticosterone and 11 deoxy-cortisol respectively.1,3,4 Clinical features of CAH vary depending upon the form of CAH and the sex of patient.
The most common cause of DSD is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase
deficiency; some forms of CAH could be life-threatening without prompt diagnosis and treatment (1,2).
The most common form of CAH is due to mutations in the CYP21A2 gene leading to 21-hydroxylase
deficiency, which results in a decrease in cortisol synthesis at varying levels and overproduction of cortisol precursors and sex steroids (6).
Congenital adrenal hyperplasia (CAH) caused by deficiency of the 21-hydroxylase
enzyme is the most common form of CAH worldwide.
deficiency is by far the most frequent cause of CAH, accounting for approximately 95% of CAH forms, and is caused by mutations in the gene encoding for a cytochrome P450 (CYP21A2) .
Holmedal et al., "High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21-hydroxylase
deficiency," Clinical Endocrinology, vol.