[A novel CYP19A1 variant causing aromatase deficiency in a family: case report and literature review].

چکیده اصلی

Aromatase deficiency is a rare autosomal recessive disorder of estrogen biosynthesis caused by pathogenic variants in the CYP19A1 gene, located on chromosome 15q21.2. Maternal virilization during pregnancy serves as an important diagnostic clue. Affected females may present with virilized external genitalia at birth, and later in life may develop primary amenorrhea, ovarian cysts or ovarian dysplasia, delayed epiphyseal closure, and reduced bone mineral density. Herein, a family with aromatase deficiency admitted to the Department of Endocrinology and Metabolism at the Affiliated Hospital of Qingdao University in October 2020 is reported. The female proband exhibited virilized external genitalia since birth, along with hirsutism, acne, and voice deepening. Laboratory findings revealed low estrogen levels, hyperandrogenemia, and elevated follicle-stimulating hormone and luteinizing hormone levels. Genetic testing identified a homozygous CYP19A1 variant. After estrogen replacement therapy, the patient achieved regular menstrual cycles, with improvements in hirsutism and acne. A literature review identified 35 female patients carrying 28 distinct CYP19A1 variants, most of whom exhibited characteristic clinical manifestations. Whole-exome sequencing in the present case revealed a homozygous CYP19A1 variant, c.293_296+1delinsTTA, which has not been previously reported. Given the low incidence of aromatase deficiency, individualized treatment is cruical for optimal outcomes. Genetic testing plays a pivotal role in establishing a definitive diagnosis and guiding personalized management.

متن کامل اصلی