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Question: pseudohermaphroditism step 1 genetics mcq? An infant is found to have 46,XY intersex (previously called male pseudohermaphroditism) after genetic analysis and extensive laboratory testing. In this condition, external genitalia are incompletely virilized, ambiguous, or female. If gonads can be found, they are almost always testes and may range from streak to normal. Which of the following processes would be compatible with this abnormality of male differentiation?
A. Deletion of the SRY gene on the short arm of the Y chromosome
B. Extreme deletions of the long arm of the Y chromosome
C. Presence of anti-müllerian hormone (AMH)
D. Secretion of luteinizing hormone (LH) by the fetal pituitary
E. 21-hydroxylase deficiency
Answer: A. Deletion of the SRY gene on the short arm of the Y chromosome
Caused by 5-α-reductase deficiency from a deficiency in the male chromosome (46 XY).
