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Congenital adrenal hyperplasia – Quick review chart

Congenital adrenal hyperplasia -Inherited autosomal recessive disorder which affects the enzymes that enable conversion of cholesterol to cortisol at the adrenal glands


autosomal recessive disorders that disrupt encoding enzymes in the adrenal steroidogenesis production of glucocorticoids , mineralocorticoids and sex steroids by the adrenal gland is impaired clinical manifestations depend upon which specific mutation has taken place ( leading to deficiency or excess ) there is an either deficient or excess production of sex steroids and this can alter the normal development of primary or secondary sex characteristics in some of those affected incidence of 1 : 14 000 to 1 : 18 000 worldwide three specific enzyme deficiencies are associated with virilization of affected females


21- hydroxylase deficiency
 ( 21-OHD ) is the most common form ( over 95 % ) due to mutation in the 21-hydroxylase ( CYP21A2 ) gene located within the HLA class III region of chromosome 7


3-β-hydroxysteroid dehydrogenase associated with mutation in the 3 β-hydroxysteroid dehydrogenase gene 
( HSD3B2 )


11 -β Hydroxylase deficiency with mutation in the 11 β-hydroxylase
 ( CYP11B1 gene )


found in all populations location & extent of gene mutations or deletions lead to complex allelic variations there is an inability to synthesize cortisol and aldosterone ( deficient ) and diversion of increased steroid precursors into androgen production ( ie androgen excess )


Salt wasting Infant at risk of adrenal
 crisis at birth due to cortisol deficiency ( within 1st 2 weeks of life )


Simple virilizing – Salt balance related 
symptoms are less pronounced


Androgen excess can lead to a range of sexual development issues as ambiguous genitalia in females ( other features can include very early puberty or precocious puberty 
in later life )


By measuring 17-hydroxyprogesterone conc is available in many countries but not in UK currently


No symptoms present at birth , they may go on to face symptoms related to sexual development in later life
 may retain upto 50 % of enzyme activity usually do not have adrenal insufficiency but may have partial glucocorticoid deficiency female genitalia are normal may have mild androgen excess & little or no other symptoms.


Congenital Adrenal Hyperplasia information by British Society of Paediatric Endocrinology and Diabetes congenital-adrenal-hyperplasia-cah-web-version.pdf (


  1. Witchel, Selma Feldman. “Congenital Adrenal Hyperplasia.” Journal of pediatric and adolescent gynecology vol. 30,5 (2017): 520-534. doi:10.1016/j.jpag.2017.04.001
  2. Momodu II, Lee B, Singh G. Congenital Adrenal Hyperplasia. [Updated 2021 Jul 30]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from:
  3. El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. Lancet. 2017 Nov 11;390(10108):2194-2210. doi: 10.1016/S0140-6736(17)31431-9. Epub 2017 May 30. Erratum in: Lancet. 2017 Nov 11;390(10108):2142. PMID: 28576284. ( Abstract )
  4. Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet. 2005 Jun 18-24;365(9477):2125-36. doi: 10.1016/S0140-6736(05)66736-0. PMID: 15964450. ( Abstract )
  5. UK National Screening Committee: Screening for congenital adrenal hyperplasia June 2015 Version 2 Glen Wilson , Acting Consultant in Public Health



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