A novel compound heterozygous variant in CYP19A1 resulting in aromatase deficiency with normal ovarian tissue

Acar S., ERBAŞ İ. M., Paketci A., Onay H., ÇANKAYA T., Gursoy S., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.62, sa.5, ss.826-830, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 62 Sayı: 5
  • Basım Tarihi: 2020
  • Doi Numarası: 10.24953/turkjped.2020.05.015
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.826-830
  • Anahtar Kelimeler: disorders of sex development, p450 oxidoreductase deficiency, clitoromegaly, hirsutism, ambiguous genitalia, MUTATION, GENE, PHENOTYPES, INFANCY
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Background. Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts.