A 4-year-old child with signs of precocious (earlyonset) puberty is brought to a clinic for evaluation and found to have a congenital deficiency of 21-hydroxylase. Feedback inhibition of the pituitary gland is lost and excess ACTH is secreted. As
A result, which of the following happens?

Question

Quizplus · Accepted Answer

A deficiency in 21-hydroxylase leads to an accumulation of precursors to cortisol synthesis, such as 17-hydroxyprogesterone, because the pathway to produce cortisol is blocked.  In the adrenogenital syndrome the failure to make cortisol due to lack of the adrenal enzyme 21-hydroxylase results in an inability to provide negative feedback suppression of ACTH production. As a result, the adrenal glands are under constant stimulation to maximize steroidogenesis. Substrates that cannot reach cortisol flow down other pathways and by mass action drive the massive overproduction of androgens, which can also be peripherally aromatized to estrogens.

A 4-Year-Old Child with Signs of Precocious (Earlyonset) Puberty Is