What is the Origin of Congenital Aromatase Deficiency?

The term is a descriptive clinical diagnosis combining congenital, meaning present at birth, with the specific enzyme that is functionally deficient, aromatase. Its clinical recognition followed the discovery of the enzyme's role in steroidogenesis. Understanding the molecular basis was solidified with the identification of the causative gene mutation in the late 20th century.

What is the Mechanism of Congenital Aromatase Deficiency?

The non-functional aromatase enzyme leads to an excessive accumulation of androgen precursors, such as testosterone and androstenedione, because the conversion step to estrogen is blocked. In affected females, this results in virilization at birth and primary amenorrhea with cystic ovaries later in life. In males, it leads to delayed bone maturation, tall stature due to unfused growth plates, and often presents with osteopenia due to a lack of estrogen's critical role in bone health.

Congenital Aromatase Deficiency ∞ Area

Congenital Aromatase Deficiency

Meaning

Congenital Aromatase Deficiency is a rare, autosomal recessive endocrine disorder characterized by the body’s inability to synthesize estrogens due to a genetic mutation in the CYP19A1 gene. This critical enzyme, aromatase, is responsible for the conversion of androgens into estrogens. The deficiency results in a severe lack of estrogen production in all tissues, which has profound and sex-specific consequences on development and metabolic health. This is a condition present from birth.