COMPLEXITIES IN DIAGNOSIS OF NON-CLASSIC FORM OF CONGENITAL DYSFUNCTION OF THE ADRENAL CORTEX IN WOMEN OF REPRODUCTIVE AGE
Keywords:
non-classical form of congenital adrenal cortex dysfunction (NC-CAD), 21-hydroxylase, CYP21A2 gene mutations, hyperandrogenism, polycystic ovaries, glucocorticosteroids, diagnostics, treatment, genetic counselingAbstract
Non-classical form of congenital dysfunction of the adrenal cortex (NC CDCA) is a complex disease, the diagnosis of which in women of reproductive age is associated with significant difficulties. The main problems are the variability of clinical manifestations and the similarity of symptoms with another endocrine disorder, such as polycystic ovary syndrome (PCOS). Studies have shown that up to 50% of women with non-classical CAH are initially misdiagnosed, resulting in delayed treatment and decreased quality of life. Standard diagnostic tests such as 17-hydroxyprogesterone and cosyntropin (adrenocorticotropic hormone, ACTH)stimulation often require additional genetic testing to confirm the diagnosis. The reproductive health impact of non-classical CAH includes increased rates of miscarriage and decreased fertility, highlighting the need for timely diagnosis and
individualized treatment. Improved diagnostic methods and increased physician awareness of the disease are needed to improve patient outcomes.
