This unusual clinical condition and lack of a mutation in CYP21A2 gene led to doubt concerning the security of the diagnosis of 21-hydroxylase
ESPE/LWPES CAH Working Group Consensus statement on 21-hydroxylase
deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.
The authors recommend that all newborn screening programs include screening for CAH due to 21-hydroxylase
CAH due to 21-hydroxylase
deficiency is the most common cause of ambiguous genitalia in genotypically normal female infants (46XX).
The differential diagnosis of 46, XX DSD includes CAH (e.g., 21-hydroxylase
deficiency and 11-[beta]-hydroxylase deficiency), gestational hyperandrogenism, testicular DSD, ovotesticular DSD, and translocation of the SRY gene.
deficiency associated NCAH is a relatively common autosomal recessive disorder (15), we herein aimed to investigate the possible role of 21-hydroxylase
deficiency in linkage disequilibrium with HLA-B51 and causing androgen excess in the pathogenesis of BD, and we included another HLA Class I associated disease with male predominance, ankylosing spondylitis (AS) as disease control group.
The clinical evidence and laboratory results both suggested the diagnosis of the rarest forms of CAH rather than the commonest 21-hydroxylase
Low, "Giant adrenal myelolipoma and testicular interstitial cell tumor in a man with congenital 21-hydroxylase
deficiency," The American Journal of Surgical Pathology, vol.
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 .
The FMR1 (Fragile X) premutation carrier status could be a cause, or presence of 21-hydroxylase
and/or adrenal antibodies indicate autoimmune polyglandular syndrome.
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