Prevalance of congenital adrenal hyperplasia (cah) carriers in pcos patients seeking fertility treatment

Although the underlying pathophysiologies differ, patients with polycystic ovarian syndrome (PCOS) and congenital adrenal hyperplasia (CAH) often present with phenotypic similarities due to androgen excess. While typically exhibiting milder symptoms, CAH carriers may also have an increased risk of developing hyperandrogenism. Though the genetic basis of PCOS is still unknown, it is possible that there are multiple etiologies to this complex and multifarious syndrome and even intersection with other endocrinopathies like CAH. As such, there may be a population of patients with PCOS who are undiagnosed carriers for CAH, and relatedly, there may be unidentified CAH carriers with hyperandrogenism who are ultimately misclassified as having PCOS. This association could potentially uncover a high-risk PCOS population that should be screened for CAH carrier status and may lead to a more accurate diagnoses of these conditions.