A 10-week-old child suffered from a salt-wasting crisis. His adrenal glands were enlarged and other organs were normal size. The child is phenotypically female, karotyping showed that the child is 46XY. The biochemical profile shows as: - sodium of 109 (reference range: 134-147) - potassium of 6.1 (reference range: 3.5-5.0) - pregnenlone 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: 0.5-3.5) The cholesterol esters in the adrenal glands accumulated and the concentration of ∆4-androstenedione was not detectable. Also, the enzymes in the steroid biosynthesis did not have detrimental mutations. The child was given treatment with glucocorticoid and mineralocorticoid. Question: a) Which protein is deficient in this case and explain the rationale.
A 10-week-old child suffered from a salt-wasting crisis. His adrenal glands were enlarged and other organs were normal size. The child is
- sodium of 109 (reference range: 134-147)
- potassium of 6.1 (reference range: 3.5-5.0)
- pregnenlone 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: 0.5-3.5)
The cholesterol esters in the adrenal glands accumulated and the concentration of ∆4-androstenedione was not detectable. Also, the enzymes in the steroid biosynthesis did not have detrimental mutations. The child was given treatment with glucocorticoid and mineralocorticoid.
Question:
a) Which protein is deficient in this case and explain the rationale.
AI-generated content may present inaccurate or offensive content that does not represent bartleby’s views.
Unlock instant AI solutions
Tap the button
to generate a solution
