Sub-section: Adrenal Section: Endocrine
- Group of Autosomal Recessive disorders characterised by deficiency in end steroid production and overproduction of steroid intermediaries
- Due to enzyme deficiency in synthetic pathway that begins with cholesterol
- Failure of negative feedback leads to increased pituitary secretion of ACTH
- Leading to Adrenal Hyperplasia
21 Hydroxylase Deficiency
- Most common
- Glucocorticoid (Cortisol) and mineralocorticoid (Aldosterone) deficiency, overproduction of adrenal Androgens
- Gives ⇒ Ambiguous female external genitalia, Hyperkalaemia, salt loss
- Initial management is medical – steroid therapy beyond enzyme block as therapeutic and to restore negative feedback
- Consider bilateral lap adrenalectomy if fails
17 Alpha-Hydroxylase Deficiency
11 Beta-Hydroxylase Deficiency
