Variable phenotypes associated with aromatase (CYP19) insufficiency in humans


Lin L., Ercan O. , Raza J., Burren C. P. , Creighton S. M. , Auchus R. J. , ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.92, ss.982-990, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 92 Konu: 3
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1210/jc.2006-1181
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.982-990

Özet

Context: The P450 enzyme aromatase ( CYP19) plays a crucial role in the endocrine and paracrine biosynthesis of estrogens from androgens in many diverse estrogen-responsive tissues. Complete aromatase deficiency has been reported in a small number of 46, XX girls with genital ambiguity and absent pubertal development, but it is unknown whether nonclassic phenotypes exist.