@article{article_1626109, title={LATEST ADVANCES FOR TREATING CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY}, journal={Journal of Istanbul Faculty of Medicine}, volume={88}, pages={155–163}, year={2025}, DOI={10.26650/IUITFD.1626109}, author={Çetin, Ecesu and Burak, Mehmet Furkan}, keywords={Konjenital Adrenal Hiperplazi, 21-Hidroksi laz Eksikliği, Melanokortin Tip 2 Reseptörü, Kortikotropin Salgı latıcı Faktör, genetik tedavi}, abstract={Congenital adrenal hyperplasia (CAH) is a group of inherit ed diseases characterised by disrupted glucocorticoid (GC) and mineralocorticoid (MC) synthesis in the adrenal glands. Most cases are caused by 21-hydroxylase (21-OH) enzyme de ficiency, which leads to diminished cortisol and aldosterone levels, a reactional increase in adrenocorticotropic hormone (ACTH), resulting in excessive adrenal androgen production. CAH is a challenging condition that often requires supraphys iological doses of GCs to suppress ACTH and subsequent androgen production. It can lead to complications such as short stature and premature puberty during childhood, hy perandrogenism, infertility, and iatrogenic Cushing syndrome in adulthood. This manuscript reviews the current therapeutic landscape, unmet needs, and emerging therapies for CAH, including corticotropin-releasing factor type 1 (CRF1) recep tor antagonists, ACTH inhibitors, and investigational gene therapies to replace 21-OH enzymatic activity. The main fo cus of the pipeline agents is to reduce androgen levels and the need for supraphysiological dosing of GCs. Crinecerfont, a CRF1 receptor antagonist, has recently been approved by the Food and Drug Administration (FDA) after showing sig nificant improvements in androgen levels in adults and pae diatric patients aged 4 years and older with classic CAH. The manufacturer claims it is the first novel CAH treatment in 70 years. However, it failed to maintain low androgen levels while reducing GC dosing. Hence, further pipeline is investi gating whether it is possible to achieve both goals or cure the disease. The long-term safety and efficacy of these promising therapeutic approaches require further investigation and elu cidation.}, number={2}, publisher={İstanbul Üniversitesi}