Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia

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

Asymptomaticin males.


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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