Congenital Adrenal Hyperplasia

Pathology

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

Aetiology

• 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

Symptoms

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

Signs

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.

Investigations

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.

Treatment

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.

Complications

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

Prognosis

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