Aromatase excess syndrome in children: insight on pathophysiology, clinical manifestation, and management

Aromatase Excess Syndrome (AEXS) a rare autosomal dominant genetic and endocrinal condition is characterized by excess conversion of androgens to estrogens, primarily due to increased aromatase enzyme activity. It is most often caused by genetic involving the CYP19A1 gene, which encodes aromatase enzyme. It is characterized by pre or peri-pubertal gynecomastia. Other features of AEXS include accelerated bone age, short final height, symptoms of testosterone insufficiency in males, with early puberty and macromastia in females. The majority of AEXS patients had high serum levels of estradiol and estrone. Confirming the diagnosis of AEXS requires molecular analysis of CYP19A1 variants. Long-term usage of aromatase inhibitors (AIs) with or without surgical mastectomy is part of the treatment for children with AEXS. This article provides endocrinologists with a narrative overview of the epidemiology, genetics, pathogenesis, clinical picture, diagnostic procedures, and current approaches of management of AEXS in children.