A 10-week-old child was admitted to hospital suffering from a salt wasting crisis. Ultrasound scans of the patient's adrenal glands revealed they were enlarged but all other major organs appeared to be within normal parameters. Although the child appeared phenotypically female, karyotyping showed the child to be 46XY. Blood tests revealed the following biochemical profile: - sodium of 109 (reference range: 134-147) - potassium of 6.1 (reference range: 3.5-5.0) - pregnenolone of 0.002 (reference range: 0.3-1.5) - renin activity of 38 (reference range: 0.5-3.5) - 17-OH pregnenolone of 0.01 (reference range: 6.8-93.5) - ACTH of 1960 (reference range: <26) Additional testing showed an accumulation of cholesterol esters in the adrenal glands, and it was also noted that the concentrations of ∆4-androstenedione were barely detectable. Genetic analysis of all the enzymes involved in steroid biosynthesis did not detect any detrimental mutations affecting their functionality. Treatment included glucocorticoid and mineralocorticoid administration. QUESTION: State which protein is the most likely to be deficient in this scenario and briefly explain your rationale
A 10-week-old child was admitted to hospital suffering from a salt wasting crisis. Ultrasound scans of the patient's adrenal glands revealed they were enlarged but all other major organs appeared to be within normal parameters. Although the child appeared
Blood tests revealed the following biochemical profile:
- sodium of 109 (reference range: 134-147)
- potassium of 6.1 (reference range: 3.5-5.0)
- pregnenolone of 0.002 (reference range: 0.3-1.5)
- renin activity of 38 (reference range: 0.5-3.5)
- 17-OH pregnenolone of 0.01 (reference range: 6.8-93.5)
- ACTH of 1960 (reference range: <26)
Additional testing showed an accumulation of cholesterol esters in the adrenal glands, and it was also noted that the concentrations of ∆4-androstenedione were barely detectable.
Genetic analysis of all the enzymes involved in steroid biosynthesis did not detect any detrimental mutations affecting their functionality.
Treatment included glucocorticoid and mineralocorticoid administration.
QUESTION:
State which protein is the most likely to be deficient in this scenario and briefly explain your rationale
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