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Congenital Adrenal Hyperplasia (CAH)


The CAH are recessive disorders in cortisol biosynthesis.  The androgen excess is clinically evident in newborn girls, whose external genitalia are virilized. The  most common enzyme affected is the 21-hydroxylase deficiency (CYP21A2-gene). Apart from hyperpigmentation, external genital development is normal in affected males. Whereas girls are usually detected due to genital ambiguity. Infant females with classical CAH, generally present in the neonatal period with ambiguous genitalia. Both genders can develop a salt-losing CAH, a medical emergency with risk for hyponatremia, hyperkalemia, hypotension, and potential fatal outcome within the first 2–3 weeks of life if not recognized. In addition, the extent of prenatal virilization can lead to mis-assignment of sex at birth. Hence, a possible diagnosis of 21-OHD needs to be promptly investigated and verified.

Why to perform genetic testing in cases with suspected CAH

  • To confirm the diagnosis
  • To better perform risk stratification and prognosis
  • To select the best therapeutic option for that specific patient based on the genotype
  • To identify other relatives at risk to develop the disease
  • To enable prenatal treatment of mothers carrying an affected female to prevent virilization


Our CAH panel


Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

What to expect from this test: The yield of the genetic test is close to 80%


Recommended Literature

  • Congenital Adrenal Hyperplasia. Selma Feldman Witchel. J Pediatr Adolesc Gynecol. 2017 Oct; 30(5): 520–534.
  • The Next 150 Years of Congenital Adrenal Hyperplasia. Adina F. Turcu and Richard J. Auchus. Steroid Biochem Mol Biol. 2015 September ; 153: 63–71.
  • Approach to the Patient: The Adult With Congenital Adrenal Hyperplasia. Richard J. Auchus, Wiebke Arlt. J Clin Endocrinol Metab. 2013 Jul; 98(7): 2645–2655.
  • Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia. Kolahdouz M., et al., Adv Biomed Res. 2015; 4: 189.


Download here interesting open access manuscripts on CAH