In their comprehensive review, Concolino & Falhammar (2025) delve into the genetics of Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency (21OHD), which accounts for the majority of CAH cases. The disease is characterized by insufficient production of the 21-hydroxylase enzyme, crucial for cortisol and aldosterone synthesis, and is encoded by the CYP21A2 gene. The severity of CAH can vary significantly, ranging from a severe classic form to a milder nonclassic variant.
The authors highlight the complexity of diagnosing 21OHD at the molecular level, despite recent advancements in the field. Their review synthesizes information from a broad spectrum of sources, including original research and past literature, to present the latest developments and insights into the genetics and molecular diagnosis of 21OHD. Concolino and Falhammar's work underscores the ongoing challenges and new concepts emerging in the genetic understanding of this condition.
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