TLDR Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
In 2013, a review was conducted on Non-classic congenital adrenal hyperplasia (NCAH), a common disorder due to 21-hydroxylase deficiency, with a prevalence of 1 in 1000. The disorder often presents with symptoms of androgen excess, including hirsutism, acne, androgenic alopecia, anovulation, menstrual dysfunction, and infertility. The disorder is caused by mutations in the CYP21A2 gene and is typically diagnosed via an acute ACTH stimulation test. The review emphasized that clinical features should guide management, not just hormonal and molecular findings. Women with NCAH often experience subfertility due to excessive adrenal and ovarian androgen secretion, elevated 17-OHP and progesterone concentrations, and poor self-esteem. The review suggested preconception genetic counseling and glucocorticoids to decrease miscarriage risk. It also mentioned a case where a couple with NCAH achieved pregnancy after 40 days of hydrocortisone treatment. The review also discussed the risk of having a child with CAH, prenatal treatment, and complications such as adrenal tumors and testicular adrenal rest tumors (TARTs).View this study on doi.org →
Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.
Testing basal 17-HP levels is a good way to screen for nonclassic adrenal hyperplasia in women with high androgen levels.
A 12-year-old girl with very high testosterone and insulin resistance improved with birth control pills, suggesting PCOS can cause high testosterone without tumors.
The document's conclusion cannot be determined without content to analyze.