Hormones: 17-hydroxyprogesteron

Chemical Pathology - Routine Laboratory

Congenital adrenal hyperplasia (CAH) is caused by inherited autosomal recessive mutations in the genes which code for several enzymes needed to produce vital adrenal cortex hormones. Depending on which enzymatic step is deficient and/or whether the genetic mutation is severe or mild, the clinical presentation will be as follows: mineralocorticoid deficiency/excess, incomplete virilisation of affected male (ambiguous genitalia), premature androgenisation of affected male, virilisation of affected female (ambiguous genitalia), sexual infantilism during later childhood in affected female, excessive pigmentation of genitalia at birth, and neonatal hypoglycaemia, secondary to cortisol deficiency

0.5ml Lithium Heparin plasma

Separate and freeze plasma immediately after collection. Send frozen

2 weeks

Not applicable

Yes