Aromatase Deficiency
Aromatase deficiency is a rare genetic disorder caused by mutations in the CYP19A1 gene, which impairs the production of the enzyme aromatase. This enzyme plays a critical role in converting androgens into estrogens, essential hormones for sexual development, bone health, and reproductive function.
The condition manifests differently depending on age and sex. In females, it often presents as ambiguous genitalia at birth, lack of puberty, or infertility. In males, symptoms may include delayed bone maturation, tall stature, and metabolic complications. Both sexes may experience bone fragility due to estrogen deficiency.
Diagnosis is typically made through hormone testing, genetic analysis, and clinical evaluation. Treatment strategies focus on hormone replacement therapy, particularly estrogen supplementation, to restore hormonal balance, support bone health, and induce normal sexual development. Fertility treatments may also be required in some cases.
Although rare, increasing awareness and advancements in genetic diagnostics are improving early detection and management.…