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
The most common cause is CAH due to 21-hydroxylase deficiency
(95%).22 Gonads are symmetrical ovaries and uterus is present.
5, 2018 (HealthDay News) -- Best practices have been updated for screening and managing congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency
. The updated Endocrine Society clinical practice guideline was published online Sept.
CAH due to 21-hydroxylase deficiency
is the most common cause of ambiguous genitalia in genotypically normal female infants (46XX).
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).
The most common cause of CAH is 21-hydroxylase deficiency
, accounting for ~ 90% of all CAH cases, with an incidence of 1 in 14,000 live births .
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.
The Phase 2 clinical trial was a multi-center, single-blind, escalating dose proof-of-concept study that assessed the efficacy and safety of orally-administered ATR-101 in addition to corticosteroids in patients with classic congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency
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.