A 5-year-old boy is brought to the clinic after his mother noticed he was developing pubic hair. The boy had a recent growth spurt and is now taller than his 5-year-old brother. The patient's preschool teacher recently mentioned he has body odor after he runs or plays. Height is at the 95th percentile for age, and weight is at the 80th percentile. Examination reveals sparse growth of long, pigmented hair at the base of the penis and in both axillae. Testes are present bilaterally and appear normal. Laboratory assessment reveals high serum concentrations of 17-hydroxyprogesterone and testosterone.Which of the following is most likely present in this patient?

Question

A 5-year-old boy is brought to the clinic after his mother noticed he was developing pubic hair.  The boy had a recent growth spurt and is now taller than his 5-year-old brother.  The patient's preschool teacher recently mentioned he has body odor after he runs or plays.  Height is at the 95th percentile for age, and weight is at the 80th percentile.  Examination reveals sparse growth of long, pigmented hair at the base of the penis and in both axillae.  Testes are present bilaterally and appear normal.  Laboratory assessment reveals high serum concentrations of 17-hydroxyprogesterone and testosterone.Which of the following is most likely present in this patient?

Quizplus · Accepted Answer

Eductional Objective: Deficiency of 21-hydroxylase causes adrenal cortical hyperplasia due to excess stimulation of the adrenal cortex by ACTH.  The classic, non-salt-wasting form presents in boys age 2-4 with early virilization, accelerated linear growth, and elevated levels of 17-hydroxyprogesterone and androgens.

A 5-Year-Old Boy Is Brought to the Clinic After His