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


Jolly A., Bayram Y., Turan S., Aycan Z., Tos T., Abali Z. Y. , et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.104, ss.3049-3067, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 104 Konu: 8
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1210/jc.2019-00248
  • Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayısı: ss.3049-3067

Özet

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.