Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

Shiken premium Upgrade Banner


Pathology is a group of autosomal recessive congenital disorders that leads to deficiencies in the enzymes involved in steroid synthesis within the adrenal glands.


  • Point mutation in cYP21 gene - 21α-hydroxylase deficiency (most common)
  • Point mutation in cYP11B1 gene – 11β–hydroxylase deficiency
  • Point mutation in cYP17A gene - 17α-hydroxylase deficiency
  • Point mutation in cYP11B2 gene – Aldosterone Synthetase deficiency


In females, hirsutism, acne, oligomenorrhoea, subfertility in 50% of women, and delayed puberty are common symptoms. Asymptomatic cases are more common in males.


Ambiguous genitalia in female infants is the most common sign. In males, cases may be more severe, presenting with dehydration, vomiting, and weight loss in salt-wasting forms.


Common blood tests, such as U&E tests, can be used to detect raised serum 17-OH Progesterone levels in women with 21α-hydroxylase deficiency.


Medical: Cortisol and aldosterone replacement as required, and Gonadotropin releasing hormone agonists may be necessary for delayed puberty.

Surgical: Treatment for ambiguous genitalia may be required.


Short stature, decreased fertility, and side effects from steroid treatment may occur as complications.


With appropriate treatment and support, the prognosis is usually good.

Join Shiken For FREE

Gumbo Study Buddy

Explore More Subject Explanations

Try Shiken Premium
for Free

14-day free trial. Cancel anytime.
Get Started
Join 10,000+ learners worldwide.
The first 14 days are on us
96% of learners report x2 faster learning
Free hands-on onboarding & support
Cancel Anytime