Congenital aromatase deficiency – A virilizing masquerade!

Abstract

Congenital adrenal hyperplasia (CAH) is the most common cause of disorder of sex development in an XX individual. While 21-hydroxylase (CYP21A2) gene mutation is the most common subtype of CAH, aromatase deficiency due to mutations in the gene CYP19A1 is a rare subtype. We report a 46,XX infant with virilized external genitalia, no clinical signs of glucocorticoid or mineralocorticoid deficiency, normal 17-hydroxyprogesterone and adrenocorticotropic hormone, and high levels of gonadotropins and testosterone with inappropriately low estradiol and ovarian cysts. Based on this clinical and biochemical consortium, next-generation sequencing was advised, in which a novel mutation in the gene CYP19A1 was identified.