A novel null mutation in P450 aromatase gene (CYP19A1) associated with the development of hypoplastic ovaries in humans.

CONCLUSION: A novel 568C insertion mutation in CYP19A1 can lead to severe aromatase deficiency. Homozygosity for this mutation is associated with the development of hypoplastic ovaries. This finding provides an important genetic marker for understanding the physiological function of aromatase in fetal ovarian development. PMID: 27086564 [PubMed - as supplied by publisher]

http://www.ncbi.nlm.nih.gov/pubmed/27086564?dopt=Abstract

Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - April 19, 2016 Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research