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A 3 month old child, showing failure to thrive, was admitted to hospital severely dehydrated. The child was confirme as genetically male 46XY, and showed male pseudohermaphroditism. Scans showed enlarged adrenal glands, but a other major organs appeared normal. Laboratory findings showed detectable but very low levels of all steroid hormones, severe hyponatremia and increased levels of both ACTH and plasma renin activity. Other tests also showed an accumulation of cholesterol esters in the adrenal glands. However, genetic analysis showed no deleterious mutations in any of the enzymes involved in steroid biosynthesis. Treatment included glucocorticoid and mineralocorticoid administration. Name the protein that is most likely to be deficient in this scenario.

A 3 month old child, showing failure to thrive, was admitted to hospital severely dehydrated. The child was confirme as genetically male 46XY, and showed male pseudohermaphroditism. Scans showed enlarged adrenal glands, but a other major organs appeared normal. Laboratory findings showed detectable but very low levels of all steroid hormones, severe hyponatremia and increased levels of both ACTH and plasma renin activity. Other tests also showed an accumulation of cholesterol esters in the adrenal glands. However, genetic analysis showed no deleterious mutations in any of the enzymes involved in steroid biosynthesis. Treatment included glucocorticoid and mineralocorticoid administration. Name the protein that is most likely to be deficient in this scenario.

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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A 3 month old child, showing failure to thrive, was admitted to hospital severely dehydrated. The child was confirmed as genetically male 46XY, and showed male pseudohermaphroditism. Scans showed enlarged adrenal glands, but all other major organs appeared normal. Laboratory findings showed detectable but very low levels of all steroid hormones, severe hyponatremia and increased levels of both ACTH and plasma renin activity. Other tests also showed an accumulation of cholesterol esters in the adrenal glands. However, genetic analysis showed no deleterious mutations in any of the enzymes involved in steroid biosynthesis. Treatment included glucocorticoid and mineralocorticoid administration. Name the protein that is most likely to be deficient in this scenario.
Transcribed Image Text:A 3 month old child, showing failure to thrive, was admitted to hospital severely dehydrated. The child was confirmed as genetically male 46XY, and showed male pseudohermaphroditism. Scans showed enlarged adrenal glands, but all other major organs appeared normal. Laboratory findings showed detectable but very low levels of all steroid hormones, severe hyponatremia and increased levels of both ACTH and plasma renin activity. Other tests also showed an accumulation of cholesterol esters in the adrenal glands. However, genetic analysis showed no deleterious mutations in any of the enzymes involved in steroid biosynthesis. Treatment included glucocorticoid and mineralocorticoid administration. Name the protein that is most likely to be deficient in this scenario.
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