Assessment of 5-alpha-reductase deficiency: Video & Anatomy | Osmosis

Question

A 15-year-old boy presents to his family physician for a routine school physical. The patient appears anxious and uneasy during the encounter. During the physical exam, the patient confesses that he feels insecure about his body. During gym practice, the patient has noticed that his genitalia appears different from his peers. There is no history of a disorder of sexual development within the family. The patient’s height and weight are at the 56^th and 45^th percentile for his age, respectively. On physical examination, ambiguous genitalia are present with a bifid scrotum, undescended testicles and hypospadias. Laboratory testing reveals an increased testosterone to dihydrotestosterone ratio. Which of the following is likely true regarding this patient’s parents?

Accepted Answer

Both parents are heterozygous. &#160;

Answer

Both parents are homozygous recessive. &#160;

Answer

The patient&#8217;s father is homozygous recessive. &#160;

Answer

Neither parent possesses an allele for the disease. &#160;

Answer

The patient&#8217;s mother is homozygous dominant. &#160;

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5-alpha-reductase deficiency

Pathology

Reproductive system