Pathology: Groupof autosomal recessive congenital disorders leading to deficiencies in theenzymes involved in steroid synthesis within the adrenal glands.
Aetiology: Pointmutation in cYP21 gene - 21α-hydroxylase deficiency (most common)
Pointmutation in cYP11B1 gene – 11β–hydroxylase deficiency
Pointmutation in cYP17A gene - 17α-hydroxylase deficiency
Pointmutation in cYP11B2 gene – Aldosterone Synthetase deficiency
Symptoms: Hirsutism, acne, oligomenorrhoea, subfertility in 50% women, delayedpuberty
Signs: Ambiguousgenitalia in female infants
Few signsin males unless a salt-wasting form – will present with dehydration, vomiting andweight loss.
Investigations: Bloods: U&E, raised serum 17-OH Progesterone in21α-hydroxylase deficiency
Treatment: Medical: Cortisol and aldosterone replacement as required.Gonadotropin
releasing hormone agonists may berequired for delayed puberty.
Surgical:May require treatment for ambiguous genitalia
Complications: Short stature, deceased fertility andsteroid side effects
Prognosis: Usually good with appropriatetreatment and support.
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