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The CYP21A2 gene encodes the human protein, Steroid 21-hydroxylase. This enzyme hydroxylates steroids at the molecule's C21 position. Enzyme names are derived from both the substrate targeted and chemical reaction catalyzed.
A deficiency in 21-Hydroxylase (CYP21A2) causes faulty conversion of adrenal precursors to cortisol and, occasionally aldosterone. This can lead to significant hyponatremia and hyperkalemia. Excess hormone precursors are diverted towards producing androgens, resulting in virilization symptoms. Diagnosis involves measuring cortisol levels along with its precursors and adrenal hormones - optionally after administering adrenocorticotropic hormone injections. Treatment typically includes glucocorticoid therapy alongside mineralocorticoids if required while baby girls born with ambiguous genitalia may need additional surgery at birth for reconstruction purposes.
Individuals, regardless of gender, who possess the classic 21-hydroxylase deficiency tend to experience an early growth spurt; however their ultimate adult height is typically shorter compared to those in their family. In addition, such individuals may have a diminished ability for procreation (fertility reduction). Affected females might also encounter excessive hirsutism and male pattern baldness as well as irregularity throughout menstruation.
The salt-wasting type of classic 21-hydroxylase deficiency is present in around 75% of individuals. Hormone production is significantly reduced, and affected persons excrete great amounts of sodium through their urine - a condition that can be fatal during infancy. Symptoms include weak feeding ability, weight loss, dehydration, and vomiting. Conversely, those with the simple virilizing form do not experience any salt depletion issues.
The salt-wasting and simple virilizing types of this condition commonly result in ambiguous external genitalia for females, while males generally have typical male anatomy but may experience smaller testes.
Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Cortisol and see a list of existing studies.
SNP polymorphisms related to the topic Cortisol:
| rs2871 | |
| rs5522 | Alteration of the functional mineralocorticoid receptor (MR) gene affects the cortisol awakening response after dexamethasone. |
| rs6189 | A genetic variant in the glucocorticoid receptor gene increases the severity of PTSD and depressive disorders. |
| rs6190 | A genetic variant in the glucocorticoid receptor gene increases the severity of PTSD and depressive disorders. |
| rs110402 | Salivary cortisol response to late evening psychosocial stress depends on the genotype of this CRHR1 polymorphism. |
| rs852977 | |
| rs941601 | |
| rs1360780 | Polymorphisms in the FK506 protein gene are associated with attention deficit hyperactivity disorder and increased daily cortisol levels. It is also associated with an increased risk of depression with an odds ratio of 1.39. |
| rs1490453 | |
| rs1617406 | |
| rs1724385 | |
| rs1724422 | |
| rs1876829 | |
| rs2766535 | |
| rs3800373 | FKBP5 polymorphisms increase symptoms of PTSD and anxiety. |
| rs3846317 | |
| rs3846329 | |
| rs4635799 | |
| rs6812904 | |
| rs6836191 | |
| rs7658048 | |
| rs7698307 | |
| rs7757037 | |
| rs9324921 | |
| rs10482633 | Genetic variation in the HPA axis is associated with cortisol response and cognitive function during acute stress. |
| rs11655764 | |
| rs13116332 | |
| rs13184611 | |
| rs17024387 | |
| rs17024708 | |
| rs17484454 | |