Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.

Jolly A., Bayram Y., DEMİRCİOĞLU S., Aycan Z., Tos T., Abali Z. Y. , ...Daha Fazla

The Journal of clinical endocrinology and metabolism, cilt.104, sa.8, ss.3049-3067, 2019 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 104 Konu: 8
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1210/jc.2019-00248
  • Dergi Adı: The Journal of clinical endocrinology and metabolism
  • Sayfa Sayıları: ss.3049-3067


Context: Primary ovarian insufficiency (POI) encompasses a spectrum of premature menopause, including both primary and secondary amenorrhea. For 75% to 90% of individuals with hyper-gonadotropic hypogonadism presenting as POI, the molecular etiology is unknown. Common etiologies include chromosomal abnormalities, environmental factors, and congenital disorders affecting ovarian development and function, as well as syndromic and nonsyndromic single gene disorders suggesting POI represents a complex trait.