Case Report

Aromatase Deficiency in Two Siblings with 46, XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in CYP19A1 Gene


  • Samim Ozen
  • Tahir Atik
  • Ozlem Korkmaz
  • Huseyin Onay
  • Damla Goksen
  • Ferda Ozkınay
  • Ozgur Cogulu
  • Sukran Darcan

Received Date: 20.09.2018 Accepted Date: 05.04.2019 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 30968679

Aromatase deficiency rarely causes a 46, XX sexual differentiation disorder. The CYP19A1 gene encodes the aromatase enzyme which catalyses the conversion of androgens to oestrogens. In cases with 46, XX karyotype, mutations in the CYP19A1 gene can lead to disorders of sex development. Clinical findings in aromatase deficiency vary depending on the degree of deficiency. Due to the effect of increased androgens; acne, cliteromegaly and hirsutism can be observed in mothers with placental aromatase deficiency. A decrease in the maternal virilisation symptoms is observable in the postpartum period. It is rarely reported that there is no virilization in pregnancy. In this study, two 46, XX sibling having the p.R115X (c.343 C>T) novel pathogenic variant in the CYP19A1 gene and raised as different genders and no maternal virilisation in pregnancy are presented. In conclusion, 46, XX virilised females should be examined in terms of aromatase deficiency once congenital adrenal hyperplasia has been excluded, even if no history of maternal virilisation during pregnancy is present.

Keywords: 46, XX disorder of sex development, aromatase deficiency, CYP19A1 gene