Reading Time:
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
Lorem ipsum dolor sit amet, sapien platea morbi dolor lacus nunc, nunc ullamcorper. Felis aliquet egestas vitae, nibh ante quis quis dolor sed mauris.
Key Images
Lorem ipsum dolor sit amet, sapien platea morbi dolor lacus nunc, nunc ullamcorper. Felis aliquet egestas vitae, nibh ante quis quis dolor sed mauris.
Key References
Lorem ipsum dolor sit amet, sapien platea morbi dolor lacus nunc, nunc ullamcorper. Felis aliquet egestas vitae, nibh ante quis quis dolor sed mauris.