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. , ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.104, no.8, pp.3049-3067, 2019 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 104 Issue: 8
  • Publication Date: 2019
  • Doi Number: 10.1210/jc.2019-00248
  • Title of Journal : JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.3049-3067

Abstract

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.