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, sa.3, ss.982-990, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 92 Sayı: 3
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1210/jc.2006-1181
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.982-990
  • İstanbul Üniversitesi Adresli: Evet

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.