Exam Cram

• Congenital Adrenal Hyperplasia (CAH) describes a number of conditions caused by genetic errors in the production of steroids (glucocorticoids, mineralocorticoids, sex steroids)

• Inheritance: autosomal recessive

• Presentation: 

  • Classical: adrenal insufficiency

  • Non classical: hyperandrogenism- raised testosterone

Outline

Background

• Adrenal glands produce steroids: glucocorticoids (regulates blood glucose), mineral corticoids (regulated BP and Na+ levels) and sex steroids (regulates sexual characteristics)

• Inherited disorder, usually autosomal recessive 

Types

1. Classical

   • 95% cases caused by defective 31-hydroxylase

   • Gene affected CYP21

   • Failure to make cortisol and aldosterone

   • Presentation: 

     1. Boys: failure to thrive, adrenal crisis whilst a baby; enlarged penis, small testicles, early puberty, acne/ deep voice

     2. Females: ambigious genitalia, absent periods, deep voice, early puberty and facial hair

2. Non classical

   • Milder condition, androgen excess 

   • Presentation: hirsuitism, deep voice and severe acne

Management

• Resuscitated: IVF + hydrocortisone if unwell

• Multidisciplinary team: endocrinology, urologist

• Replacement corrtisol +- aldosterone daily

• Hormonal supplementation as required

• Female pregnancy support (not required in males)

References and Resources

1. https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/congenital-adrenal-hyperplasia-cah/

2. Sharma L, Momodu II, Singh G. Congenital Adrenal Hyperplasia. 2025 Jan 27. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 28846271.

Written in 2025.