E. Alfadhli

Late Recognition of Aromatase Deficiency Following 16 Years of Misdiagnosis as Congenital Adrenal Hyperplasia: A Case with Coexisting Gonadoblastoma and Dysgerminoma.

Aromatase deficiency (AD) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP19A1 gene, resulting in impaired conversion of androgens to estrogens. Clinical manifestations in 46, XX individuals include ambiguous genitalia, delayed puberty, and reproductive dysfunction. Both sexes may develop...