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. 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:
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.
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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