How can researchers diagnose and study disease progression if typical biomarkers are unavailable or inconclusive? This very issue arose during a study on congenital adrenal hyperplasia (CAH). As shared in Endocrinology Advisor, researchers discovered that 11-oxyandrogens were able to be used to assess disease management and control in patients with 21-hydroxylase deficiency, a form of CAH. See the full findings published in the Journal of the Endocrine Society.
To begin, it is first important to define what exactly 11-oxyandrogens are. An article published in Nature explains that:
The adrenal gland is the primary source of a set of 11-oxygenated 19-carbon steroids, also termed 11-oxyandrogens, which have several roles in human physiology and disease. Concentrations of 11-oxyandrogens are elevated in several disorders of androgen excess, including premature adrenarche, congenital adrenal hyperplasia and polycystic ovary syndrome, and they can contribute to the progression of castration-resistant prostate cancer.
Researchers, in lieu of other biomarkers, used 11-oxyandrogens to track disease progression. Biomarkers are, in basic terms, some sort of biological measurable which can give insights into disease progression and management.
During the study, researchers used retroactive data from 142 adult patients and 208 pediatric patients with 21-hydroxylase-deficiency. The data spanned over a 13-year period and included blood samples, biomarker studies, and hormone assessments. Altogether, 2738 laboratory assessments analyzed this information.
Through this, researchers discovered:
- 92% of pediatric patients (191) had elevated 17-hydroxyprogesterone (17OHP) levels with normal androstenedione (A4) levels. In adults, 69% (98) had elevated 17OHP with normal A4. A much smaller number, in both groups, had heightened A4 levels with normal 17OHP levels.
- Of those with high 17OHP levels, 51% were female and 66% were children. Of those with high A4 levels, 40% were female and 20% were children.
- Additional stratification determined that 11-ketoandrostenedione levels determined whether patients were in good or poor control of their condition.
Altogether, the research suggests that medical professionals, moving forward, may use 11-oxyandrogens, and specifically 11-hydroxytestosterone, as biomarkers.
Congenital Adrenal Hyperplasia (CAH)
Congenital adrenal hyperplasia (CAH) refers to a group of inherited disorders which impact the adrenal glands. Normally, these organs produce hormones which regulate your response to stress, immune function, metabolism, and a number of other important bodily functions. However, CAH causes enzyme deficiencies which alter the adrenal glands’ ability to perform these functions. In a large majority of cases, this is due to 21-hydroxylase deficiency. However, CAH can also be caused by other rare enzyme deficiencies.
CAH presents itself as classic, a more severe form detected in infancy, or non-classic, a more mild form in which symptoms may not appear until childhood or adulthood. In the former, symptoms include blood pressure and blood sugar issues, short stature, early puberty, and abnormal genital development. The latter, on the other hand, usually presents as severe acne, abnormal genital development, absent or irregular menstrual cycles, and rapid growth during childhood despite a shorter-than-average end height.