Adolescent- and Adult-Specific SymptomsAdolescent- and Adult-Specific Symptoms

Elevated Androgens And Progesterone Disrupt Fertility In Multiple Ways1,2

Menstrual irregularities in CAH3*

Menstrual irregularities oligomenorrhea in 24% of women chart

experience oligomenorrhea

Menstrual irregularities amenorrhea in 21% of women chart

experience amenorrhea

Elevated androgens and progesterone can also impair folliculogenesis and embryo implantationembryo implantation.2

Patients with adequate follicular-phase progesterone suppression (<0.6 ng/mL) may be able to achieve better pregnancy rates compared with patients with high progesterone levels4

*Results from a study that included 101 premenopausal women with CAH.

Excess Acth and Adrenal Androgens May Cause Gonadal Dysfunction5

Both primary and secondary gronadal failure can contribute to fertility problems in men with CAH.

Excess ACTH and adrenal androgens gonadal dysfunction flowchartsExcess ACTH and adrenal androgens gonadal dysfunction flowcharts

~46% of adult male patients with CAH experience TARTs, which are caused by excess ACTH.6

ACTH=adrenocorticotropic hormone; TART=testicular adrenal rest tumor.

Accelerated growth MAY prevent patients from reaching their full height potential1,3

Male and female adults with CAH reported lower average heights compared to those without CAH.3

Chart showing average height lower in male and female adults with CAHChart showing average height lower in male and female adults with CAH

Children and adolescents with shorter stature may experience poorer health-related quality of life than those who achieve their full height potential7‡

†+CAH indicates patients with CAH. –CAH indicates patients without CAH.

‡Based on a study not specific to CAH that included 345 pediatric patients (8-18 years of age) with a clinical diagnosis of short stature and 421 parents. The study recruited participants from EU endocrine centers.8

Learn how glucocorticoids are used to treat CAH9

Role of GCs in CAH

Discover the symptoms of excess androgens common in both children and adults10,11

See non–age-related symptoms

REFERENCES

  1. 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
  2. Maher JY, Gomez-Lobo V, Merke DP. The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum. Rev Endocr Metab Disord. 2023;24(1):71-83. doi:10.1007/s11154-022-09770-5
  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. 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
  5. 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
  6. Engels M, Span PN, van Herwaarden AE, et al. Testicular adrenal rest tumors: current insights on prevalence, characteristics, origin, and treatment. Endocr Rev. 2019;40(4):973-987. doi:10.1210/er.2018-00258
  7. Backeljauw P, Cappa M, Keiss W, et al. Impact of short stature on quality of life: a systematic literature review. Growth Horm IGF Res. 2021;57-58:101392. doi:10.1016/j.ghir.2021.101392
  8. Quitmann JH, Bullinger M, Sommer R, Rohenkohl AC, Bernardino Da Silva NM. Associations between psychological problems and quality of life in pediatric short stature from patients' and parents' perspectives. PLoS One. 2016;11(4):e0153953. Published online April 20, 2016. doi:10.1371/journal.pone.0153953
  9. 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
  10. White PC, Sen GP, Tang F, et al. Natural history of classic congenital adrenal hyperplasia: results from pediatric and adult patients in the CAHtalog Registry. Poster presented at: The Endocrine Society Annual Meeting; June 1-4, 2024; Boston, MA.
  11. 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