Endocrine

Congenital Adrenal Hyperplasia

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Pathology

Group of autosomal recessive congenital disorders leading 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

Signs

Ambiguous genitalia in female infants
Few signs in males unless a salt-wasting form – will present with dehydration, vomiting and weight loss.

Symptoms

Hirsutism, acne, oligomenorrhoea, subfertility in 50% women, delayed puberty
Asymptomatic in males.

Investigations

Bloods: U&E, raised serum 17-OH Progesterone in 21α-hydroxylase deficiency.

Treatment

Medical: Cortisol and aldosterone replacement as required. Gonadotropin 
releasing hormone agonists may be required for delayed puberty.
Surgical: May require treatment for ambiguous genitalia 

Prognosis

Usually good with appropriate treatment and support. 
Short stature, deceased fertility and steroid side effects.

Key Facts

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Key Images

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Key References

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