TLDR LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.
The study compared the accuracy of immunoassays to LC-MS/MS in measuring serum 17-hydroxyprogesterone (17OHP) and androgens in 39 women with hyperandrogenism and 29 controls. It found that immunoassays reported significantly higher median 17OHP levels than LC-MS/MS in both groups, leading to unnecessary additional diagnostic procedures in up to 85% of patients with immunoassays, compared to none with LC-MS/MS. The study also found that concentrations of total testosterone, androstendione, and DHEA-S were significantly higher when measured by immunoassays. LC-MS/MS showed 100% sensitivity, specificity, and test accuracy, with no false positives or negatives. The final diagnosis revealed 61.5% with PCOS, 31% with idiopathic hyperandrogenism, 5% with CAH, and 2.5% with ACC. The study concluded that LC-MS/MS is a more reliable diagnostic tool for measuring serum 17OHP and androgens, suggesting its adoption in commercial laboratories is imminent.
150 citations,
November 2007 in “The Journal of Clinical Endocrinology and Metabolism” 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.
85 citations,
June 2006 in “Best Practice & Research Clinical Endocrinology & Metabolism” The document concludes that hirsutism is the main sign for diagnosing hyperandrogenism, which requires a detailed patient history and physical exam.
352 citations,
January 2006 in “The Journal of Clinical Endocrinology and Metabolism” Most women referred for excess male hormone symptoms had polycystic ovary syndrome (PCOS), with other conditions being less common.
947 citations,
February 2004 in “The Journal of Clinical Endocrinology and Metabolism” Most women with excess male hormones have Polycystic Ovary Syndrome, and hormonal therapy can improve symptoms but may cause side effects.
4025 citations,
December 2003 in “Human Reproduction” The 2003 consensus updated PCOS diagnosis criteria and linked PCOS to higher risks of diabetes and heart problems, recommending lifestyle changes to lower these risks.
216 citations,
November 1999 in “Fertility and Sterility” Testing basal 17-HP levels is a good way to screen for nonclassic adrenal hyperplasia in women with high androgen levels.
25 citations,
September 2015 in “Clinical Endocrinology” Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
117 citations,
May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
7 citations,
October 2019 in “Case reports in endocrinology” A young woman's symptoms suggested PCOS, but tests and surgery confirmed and treated a rare ovarian tumor, resolving her condition.
30 citations,
June 2019 in “Frontiers in Endocrinology” The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
