Ask about this productRelated genes to: CYP21A2 antibody
- Gene:
- CYP21A2 NIH gene
- Name:
- cytochrome P450 family 21 subfamily A member 2
- Previous symbol:
- CYP21, CYP21B
- Synonyms:
- P450c21B, CA21H, CPS1, CAH1
- Chromosome:
- 6p21.33
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: CYP21A2 antibody
Related articles to: CYP21A2 antibody
- Does the human ovary possess the enzymatic machinery required for local corticosteroid synthesis during follicular development? - Source: PubMed
Publication date: 2026/07/06
Johannsen M LStyrishave BZheng MMamsen L SPoulsen L L CHay-Schmidt AAnujan PFranks SGrøndahl M LKristensen S GMacklon K TTanvig MYding Andersen C - Clitoromegaly in a newborn with otherwise typically appearing female genitalia indicates exposure to excess androgens in fetal life. Congenital Adrenal Hyperplasia (CAH) is the most common cause of virilization at birth and empiric treatment is often pursued due to the risk of life-threatening adrenal crisis. Turner syndrome (TS) does not usually present with atypical genital appearance or other signs of hyperandrogenism, unless Y chromosome material is present. In this report, we describe a newborn who was noted to have clitoromegaly soon after birth with an otherwise normal exam and no syndromic features. Empiric treatment with hydrocortisone and fludrocortisone was started while initial laboratory results were pending. However, prior to receiving CAH hormonal panel results, karyotype testing returned as [45,XO(3)/46,XX(17)], consistent with mosaic TS. Testing for Y chromosome material, pursued as a potential cause of clitoromegaly, was negative. To add to the diagnostic dilemma, newborn screening for CAH was also negative. Results from the CAH panel done soon after birth eventually returned and revealed an elevated 17-hydroxyprogesterone level (17-OHP) of 1540 ng/dl, which is more congruent with non-classical CAH and does not typically result in clitoromegaly at birth. To clarify the diagnosis, a 250 mcg cosyntropin stimulation test was performed after holding steroids for a week. Post-stimulation 17-OHP of 82334 ng/dL confirmed classical CAH secondary to 21-hydroxylase deficiency and genetic analysis identified biallelic pathogenic deletions of CYP21A2 gene. Current TS guidelines recommend testing for Y chromosome material if masculinizing features develop. This case underlines the value of including CAH in the differential diagnosis as another potential cause of virilization in patients with TS. The concurrence of CAH and TS poses added complexity for clinical management due to their overlapping impacts on linear growth, puberty, reproductive function, bone density and metabolic health. - Source: PubMed
Publication date: 2026/06/24
Tisler AbigailCopenhaver Elizabeth ANaji Ghada FMenon Sruthi - Classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is characterized by impaired cortisol synthesis and excess adrenal androgen production. Current management relies on adrenal hormone replacement, however, achieving adequate androgen suppression often requires supraphysiologic glucocorticoid dosing with a risk of long-term morbidity. - Source: PubMed
Publication date: 2026/06/29
Goai Wen HueyTorpy David J - 21-hydroxylase deficiency is an autosomal recessive genetic disease caused by congenital deficiency of 21-hydroxylase. Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disease. The coexistence of these two diseases in the same patient is rare in clinical practice. - Source: PubMed
Publication date: 2026/06/10
Zhang RuipingZhang YingNie YanyanBai YanlingShu JianboLiu Yang - : Polycystic ovarian syndrome (PCOS) and the non-classic form of congenital adrenal hyperplasia (NC-CAH) are hyperandrogenic conditions with overlapping clinical symptoms but different genetic backgrounds. The possible interrelationships between the two conditions remain unclear; thus, the present study aims to investigate the prevalence of exon 7 genetic variants in patients with PCOS and to explore the possible associations of the polymorphisms with adrenocortical hormonal production. : The exon 7 region was genotyped in 80 unrelated female patients with PCOS and 12 women with NC-CAH. The associations between genetic variants, clinical characteristics, and adrenocortical hormones were investigated. : The pathogenic NC-CAH variant c.844G>T; p.(Val282Leu) was found in 66.7% (8/12) of patients with NC-CAH but in none of the individuals with PCOS. The benign rs1554305325, rs6465, rs6472, and rs6477 genetic polymorphisms were not related to clinical hyperandrogenism. The rs6472 polymorphic alleles were associated with increased adrenocorticotropic hormone (ACTH) (5.5 vs. 3.4 pmol/L, 0.022) and cortisol (460.5 vs. 366.5 nmol/L, 0.016) levels. The rs6465 variant alleles were significantly associated with lower pregnenolone (1.43 vs. 3.1 ng/mL, 0.031) and ACTH (2.5 vs. 4.5 pmol/L, 0.030) levels in the unadjusted model but not after adjustment for potential confounders ( > 0.05). : The .(Val282Leu) variant is very common among Bulgarian patients with NC-CAH but it has not been found in our cohort of women with PCOS. The exon 7 polymorphisms might be associated with cortisol levels in the patients with PCOS. Further larger studies are needed to confirm or reject the current findings in different ethnic groups. - Source: PubMed
Publication date: 2026/06/14
Robeva RalitsaAndonova SilviaKirilov GeorgiYordanova IglikaVandeva SilviaElenkova AtanaskaSavov AlexeyTodorov Tihomir