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

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. PMID: 30968679 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research