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Old 08-02-2010
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Biochemistry XY with Clitoromegaly case

A 4-year-old 46,XY child is brought to the physician because of hyperpigmentation. Physical examination shows clitoromegaly, no labial fusion, and a blind vaginal pouch. Further evaluation shows hypoplastic male genital ducts but no Müllerian development. A CT scan of the abdomen and pelvis shows large, lipid-laden adrenals causing displacement of the kidneys downward. Laboratory studies show low levels of all C21, C17, and C18 steroids in the plasma and urine, and an absent response to adrenocorticotropic hormone (ACTH) and human chorionic gonadotropin (hCG) stimulation. Which of the following is most likely deficient in this patient?
A. 17-alpha hydroxylase
B. 21-alpha hydroxylase
C. 11-beta hydroxylase
D. Aromatase
E. Steroidogenic acute regulatory protein (StAR)
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Old 08-02-2010
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E.Steroidogenic acute regulatory protein (StAR)...protein that help in transport of cholesterol to mitochondria for synthesis of steroid hormones..
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Old 08-02-2010
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nice question thanx goodboy1234!!! E - lipoid congenital adrenal hyperplasia (lipoid CAH) caused by deficiencey of Steroidogenic acute regulatory protein (StAR)
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Old 08-02-2010
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It is E

Welcome DoctorF
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