Aromatase Deficiency

Aromatase Deficiency

Aromatase deficiency is a rare genetic disorder impairing the body's ability to convert androgens to oestrogens. This condition can lead to virilisation in females and delayed puberty, osteoporosis, and metabolic issues in both sexes. Aromatase deficiency results from mutations in the CYP19A1 gene. Diagnosis involves clinical assessment and genetic testing.