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

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Akcurin S., Turkkahraman D., Kim W., Durmaz E., Shin J., Lee S.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.8, sa.2, ss.205-210, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 8 Sayı: 2
  • Basım Tarihi: 2016
  • Doi Numarası: 10.4274/jcrpe.2761
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.205-210
  • Anahtar Kelimeler: Aromatase, CYP19A1 gene, ovarian development, HYPERGONADOTROPIC HYPOGONADISM, MULTICYSTIC OVARIES, POINT MUTATIONS, DEFICIENCY, FEMALE, ESTROGENS, PHENOTYPE, INFANCY, IMPACT
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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.