Ambiguous genitalia: A rare condition in which an infant’s external genitals are not clearly male or female in appearance.
Autosomal recessive disorder: In this disorder, two copies of an abnormal gene must be present in order for the condition to occur.
Bifid scrotum: A deep midline cleft in the scrotum, due to incomplete fusion of the labioscrotal folds.
Cortisol: Also known as hydrocortisone, it is a steroid hormone produced by the adrenal cortex and used to treat inflammation.
Glucocorticoids: Any of a group of corticosteroids (e.g. hydrocortisone) which are involved in the metabolism of carbohydrates, proteins, and fats and have anti-inflammatory activity.
Mineralocorticoids: A corticosteroid which is involved with maintaining the salt balance in the body, such as aldosterone.
Puberty: The period during which adolescents reach sexual maturity and become capable of reproduction.
17α-hydroxyprogesterone: An endogenous progestogen steroid hormone related to progesterone.