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An 18-Year-Old Girl Is Evaluated for Primary Amenorrhea

Question 2

Multiple Choice

An 18-year-old girl is evaluated for primary amenorrhea.The external genitalia are unambiguously female, and secondary sexual characteristics appear normally developed.The karyotype is 46,XY.Estrogen and testosterone levels are in the normal male range.This condition is most likely caused by:


A) Deficiency of aromatase in all tissues.
B) Deficiency of 21-hydroxylase in the adrenal cortex.
C) Deficiency of desmolase.
D) A defective androgen receptor.
E) A defect of adrenocorticotropic hormone secretion from the anterior pituitary gland.

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