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

Date
2019
Author
Bas, Serpil
Jolly, Angad
Bayram, Yavuz
DEMİRCİOĞLU, SERAP
Aycan, Zehra
Tos, Tulay
Abali, Zehra Yavas
HACIHAMDİOĞLU, BÜLENT
Akdemir, Zeynep Hande Coban
Hijazi, Hadia
Atay, Zeynep
GÜRAN, TÜLAY
Colombo, Roberto
Barakat, Tahsin Stefan
Rinne, Tuula
White, Janson J.
YEŞİL, GÖZDE
Gezdirici, Alper
Gulec, Elif Yilmaz
Jhangiani, Shalini N.
Muzny, Donna M.
BEREKET, ABDULLAH
Gibbs, Richard A.
Posey, Jennifer E.
Lupski, James R.
Abali, Saygin
Pehlivan, Davut
Karaca, Ender
Darendeliler, Fatma Feyza
Bas, Firdevs
Poyrazoglu, Sukran
Metadata
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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.
URI
http://hdl.handle.net/20.500.12627/55112
https://doi.org/10.1210/jc.2019-00248
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