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SYMPTOMS OF EXCESS ANDROGENS

Androgen production is regulated by the CRF pathway. But CRF overactivity in patients with CAH (congenital adrenal hyperplasia) leads to excess ACTH and androgens. When GCs alone are used to treat the resulting imbalance, about 2/3 of patients have androgen levels that are not optimal.1-4

Excess ACTH and adrenal androgens may affect
all life stages

The symptoms of excess adrenal androgens can have long-ranging effects, starting in childhood and continuing through adulthood. Other symptoms are not related to specific ages, but can also have a negative physical and mental impact.5-10

Childhood
specific
  • Early puberty
  • Accelerated
    growth/early
    epiphyseal fusion
Adolescent and
adult specific
  • Fertility problems
  • Height below
    genetic potential
Non–age
specific
  • TARTs/OARTs
  • Acne
  • Hirsutism
  • Anxiety

ACTH=adrenocorticotropic hormone; CRF=corticotropin-releasing factor; GC=glucocorticoid; OART=ovarian adrenal rest tumor; TART=testicular adrenal rest tumor.

ACTH=adrenocorticotropic hormone; CRF=corticotropin-releasing factor; GC=glucocorticoid; OART=ovarian adrenal rest tumor; TART=testicular adrenal rest tumor.

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Learn how glucocorticoids are used to treat CAH1

Role of GCs in CAH

See how it may be possible to directly reduce ACTH and androgens

Learn about the CRF pathway

REFERENCES

  1. Mallappa A, Merke DP. Management challenges and therapeutic advances in congenital adrenal hyperplasia. Nat Rev Endocrinol. 2022;18(6):337-352. doi:10.1038/s41574-022-00655-w
  2. Schröder MAM, Claahsen-van der Grinten HL. Novel treatments for congenital adrenal hyperplasia. Rev Endocr Metab Disord. 2022;23(3):631-645. doi:10.1007/s11154-022-09717-w
  3. Arlt W, Willis DS, Wild SH, et al. Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. J Clin Endocrinol Metab. 2010;95(11):5110-5121. doi:10.1210/jc.2010-0917
  4. Finkielstain GP, Kim MS, Sinaii N, et al. Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2012;97(12):4429-4438. doi:10.1210/jc.2012-2102
  5. Merke DP, Auchus RJ. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med. 2020;383(13):1248-1261. doi:10.1056/NEJMra1909786
  6. Speiser PW, Arlt W, Auchus RJ, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2018;103(11):4043-4088. doi:10.1210/jc.2018-01865
  7. Hindmarsh PC, Geertsma K. Congenital Adrenal Hyperplasia: A Comprehensive Guide. Elsevier/Academic Press; 2017.
  8. Prete A, Auchus RJ, Ross RJ. Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia. Eur J Endocrinol. 2022;186(1):R1-R14. doi:10.1530/EJE-21-0794
  9. Sarafoglou K, Merke DP, Reisch N, Claahsen-van der Grinten H, Falhammar H, Auchus RJ. Interpretation of steroid biomarkers in 21-hydroxylase deficiency and their use in disease management. J Clin Endocrinol Metab. 2023;108(9):2154-2175. doi:10.1210/clinem/dgad134
  10. Koren R, Koren S, Khashper A, Benbassat C, Pekar-Zlotin M, Vaknin Z. Ovarian adrenal rest tumor in congenital adrenal hyperplasia: is medical treatment the first line option? Arch Endocrinol Metab. 2021;65(6):841-884. doi:10.20945/2359-3997000000415