5th April 2024

Congenital Adrenal Hyperplasia

Pathophysiology

Congenital adrenal hyperplasia (CAH) is a genetic condition that presents with prepubertal excessive male characteristics in infants or children. The condition is caused by enzyme deficiencies, with a deficiency of 21-hydroxylase responsible for 90% of cases. The deficiencies lead to inadequate production of cortisol, leading to increased levels of ACTH and cortisol precursor hormones. In infants, the condition presents with failure to thrive, and later in childhood with precocious puberty, short stature, atypical genitalia, irregular menses and hirsutism in females.

Diagnosis and management

In children suspected of having CAH, diagnosis is confirmed through genetic testing and measuring levels of cortisol precursor hormones, in particular 17-hydroxyprogesterone. Treatment is based around steroid replacement in the majority of cases and surgery e.g., vaginoplasty, in a minority of girls.

References

• Congenital adrenal hyperplasia. BMJ Best Practice. Last updated: 24ᵗʰ Aug 2021
• Disorders of sexual development. Oxford handbook of clinical specialities. 10ᵗʰ edition