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Aromatase Deficiency

Meaning

Aromatase deficiency is a rare, autosomal recessive genetic disorder characterized by the inability to synthesize estrogens due to a mutation in the CYP19A1 gene, which encodes the aromatase enzyme. This enzyme is physiologically responsible for converting androgens, such as testosterone and androstenedione, into estrogens, primarily estradiol and estrone. The clinical manifestation results in a profound lack of estrogen production in both sexes, leading to distinct and severe hormonal imbalances. In females, this deficiency causes virilization in utero and delayed puberty, while males typically present with delayed epiphyseal fusion and osteoporosis due to estrogen’s crucial role in bone maturation.