COMEDK 2007 MCQ Answer 38

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The correct answer is B

Congenital Adrenal Hyperplasia (CAH)

  • genetic disorder which involves deficiency in one of enzymes required in steroid hormone synthesis
  • in enzyme defects associated with cortisol deficiency, hyperplasia of adrenal gland may occur due to excessive stimulation by ACTH
  • when enzyme deficiency leads to virilisation of affected females (masculinisation of ext genitalia) disorder sometimes referred to as adreno-genital syndrome
    • wolffian duct development consistently absent in virilised females, who, therefore, have normal internal sex organs
    • why development is not stimulated by excess androgen is not understood, but high local concentrations created by testes may be required
The most common block is the 21 Hydroxylase block, which accounts for more than 90% of all CAH cases. The steroid that accumulates is 17 Hydroxy progesterone. This is an easy diagnostic test to do in the newborn period. The blood spot, which is taken at 5 days, can be tested for 17 Hydroxy-progesterone.


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