21-Hydroxylase Deficiency

21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands and is the most common cause of congenital adrenal hyperplasia. In it, the body does not adequately produce certain hormones, such as cortisol, and sometimes generates an excess of male hormones.

How it presents: depending on its form, it may be noticed from birth with ambiguous-appearing genitalia in girls, or later on with signs of early maturation, excessive hair, or menstrual cycle alterations.

When to investigate it? In the face of these hormonal signs in childhood or adolescence, a specialized study is advisable; in Mexico it is included in the newborn screening.

Which specialist treats it? The pediatric endocrinologist evaluates the case in children and the endocrinologist in adults, since it is a hormonal condition. Because of its complexity, the most appropriate step is close follow-up with these professionals.