Monday, 30 July 2007

Investigations (CAH)

1. Plasma 17 OH Progesterone
  • should be elevated
  • couldn't be converted to 11-deoxycortisol
  • characteristics of 21 hydroxylase deficiency

2. Serum ACTH-elevated

3. urine test

  • presence of 17-ketosteroids(derived from androgens)
  • 10-15 times normal-Guyton Phiology Textbook

3. Renal function, electrolyte

  • may be associated with electrolyte and water disturbances
  • for e.g: in this case ' It's a Boy'- salt-wasting
  • hyponatreamia
  • hyperkaleamia`
  • metabolic acidosis (after birth, why?)

4. karyotyping (map out the genetic make up)

5. Pelvic or abdominal ultrasound scan

  • to determine pelvic structures and the presence/absence of gonads

prepared by:

SRI MURNIATI ROSLI

references:

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