Disorders of sexual development and sex hormones Quiz: Ace Your Exams

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A 15-year-old girl presents to her family physician with concerns regarding delayed sexual development. The patient states that she has never had a menstrual cycle. Her temperature is 98.6 F° (37C°), blood pressure is 130/90 mmHg, and heart rate is 90/min. On pelvic examination, the patient is found to have absence of pubic hair, bilateral intra-labial masses, and a blind-end vaginal pouch. Which of the following best describes the underlying etiology of this condition?

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5-alpha-reductase deficiency

Deficiency of placental aromatase

Defective androgen receptors

Aberration of GnRH neuronal migration

Chromosomal mosaicism