A Novel Homozygous CYP19A1 Gene Mutation Causing Aromatase Deficiency

Abstract

Aromatase deficiency is a rare autosomal recessive disorder and its exact prevalence is not known. Aromatase enzyme catalyzes the conversion of androgens to estrogens in gonadal and extra-gonadal tissues. Deficiency of aromatase enzyme can lead to ambiguous genitalia in a female child and maternal virilization during pregnancy due to raised androgen levels in the mother. A 10-month-old child was referred to our outpatient department for the evaluation of ambiguous genitalia. There was a history of maternal virilization during pregnancy. Karyotype of the child was 46XX. Congenital adrenal hyperplasia was ruled out as serum cortisol, plasma adrenocorticotropic hormone, and 17-hydroxyprogesterone were within normal limits. Hormonal assays showed elevated follicle-stimulating hormone and luteinizing hormone, with raised testosterone and low estradiol levels. Based on these findings, aromatase deficiency was suspected. A novel homozygous mutation c.1376delA located on exon 10 was identified on the CYP19A1 gene. We identified a novel mutation in the CYP19A1 gene in a patient who presented with ambiguous genitalia and maternal virilization during pregnancy.

Keywords: ambiguous genitalia; aromatase deficiency; cyp19a1 gene; maternal virilization; novel mutation.