Routine biochemistry should be performed, since hyponatraemia and hyperkalaemia may be present. In addition to this there may be hypoglycaemia, and a metabolic acidosis.
The hormonal findings depend on the enzyme affected. Cortisol and aldosterone are low or absent in nearly all subtypes; where the cortisol is low the serum ACTH will be raised as a normal physiological response. Also raised will be the substrate normally acted upon by the enzyme, thus 17-hydroxyprogesterone in 21-alpha-hydroxylase deficiency, 11-deoxycortisol in 11-beta-hydroxylase deficiency.
In addition to this there will be a raised level of products from pathways not affected by the deficiency; thus urinary pregnanetriol and 17-oxosteroids are elevated in the two defects mentioned above.
Chromosomal analysis is indicated if there is cryptorchidism.
Last reviewed 04/2021