A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans

@inproceedings{Akurin2016ANN,
  title={A Novel Null Mutation in P450 Aromatase Gene (CYP19A1) Associated with Development of Hypoplastic Ovaries in Humans},
  author={Sema Akçurin and Doğa T{\"u}rkkahraman and Woo-Young Kim and Erdem Durmaz and J G Shin and S S Lee},
  booktitle={Journal of clinical research in pediatric endocrinology},
  year={2016}
}
OBJECTIVE The CYP19A1 gene product aromatase is responsible for estrogen synthesis and androgen/estrogen equilibrium in many tissues, particularly in the placenta and gonads. Aromatase deficiency can cause various clinical phenotypes resulting from excessive androgen accumulation and insufficient estrogen synthesis during the pre- and postnatal periods. In this study, our aim was to determine the clinical characteristics and CYP19A1 mutations in three patients from a large Turkish pedigree… CONTINUE READING

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