Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene.

CONCLUSION: We identified a novel mutation in the CYP19A1 gene in a patient who presented with ambiguous genitalia and maternal virilization during pregnancy. Presence of large and cystic ovaries is not essential in aromatase deficiency. Key words: aromatase deficiency, CYP19A1 gene, maternal virilization, ambiguous genitalia. PMID: 29553041 [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