Congenital adrenal hyperplasia

Congenital adrenal hyperplasia refers to a group of inherited autosomal recessive disorders affecting the adrenal cortex and the endocrine system

Congenital adrenal hyperplasia refers to a group of inherited autosomal recessive disorders affecting the adrenal cortex and the endocrine system

It is characterized by enzymatic deficiencies in the steroidogenesis pathway—most commonly 21-hydroxylase—that impair cortisol and often aldosterone synthesis

It is characterized by enzymatic deficiencies in the steroidogenesis pathway—most commonly 21-hydroxylase—that impair cortisol and often aldosterone synthesis Diminished cortisol feedback triggers excessive pituitary adrenocorticotropic hormone secretion, causing adrenal cortex hyperplasia and shunting steroid precursors into androgen synthesis pathways

Diminished cortisol feedback triggers excessive pituitary adrenocorticotropic hormone secretion, causing adrenal cortex hyperplasia and shunting steroid precursors into androgen synthesis pathways Depending on the severity of the enzymatic defect, affected infants, children, or adults may present with life-threatening salt-wasting adrenal crisis, ambiguous genitalia in newborn females, precocious puberty, or milder signs of hyperandrogenism

Depending on the severity of the enzymatic defect, affected infants, children, or adults may present with life-threatening salt-wasting adrenal crisis, ambiguous genitalia in newborn females, precocious puberty, or milder signs of hyperandrogenism