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

Jolly, Angad; Jolly, Angad; Bayram, Yavuz; Bayram, Yavuz; DEMİRCİOĞLU, SERAP; Turan, Serap; Aycan, Zehra; Aycan, Zehra; Tos, Tulay; Tos, Tulay; Abali, Zehra; Abali, Zehra; HACIHAMDİOĞLU, BÜLENT; Hacihamdioglu, Bulent; Akdemir, Zeynep; Akdemir, Zeynep; Hijazi, Hadia; Hijazi, Hadia; Bas, Serpil; Bas, Serpil; Atay, Zeynep; Atay, Zeynep; GÜRAN, TÜLAY; Guran, Tulay; Abali, Saygin; Abali, Saygın; Bas, Firdevs; Bas, Firdevs; Darendeliler, Feyza; Darendeliler, Fatma; Colombo, Roberto; Colombo, Roberto; Barakat, Tahsin; Barakat, Tahsin; Rinne, Tuula; Rinne, Tuula; White, Janson; White, Janson; YEŞİL, GÖZDE; YEŞİL, Gözde; Gezdirici, Alper; Gezdirici, Alper; Gulec, Elif; Gulec, Elif; Karaca, Ender; Karaca, Ender; Pehlivan, Davut; Pehlivan, Davut; Jhangiani, Shalini; Jhangiani, Shalini; Muzny, Donna; Muzny, Donna; Poyrazoglu, Sukran; Poyrazoglu, Şükran; Bereket, Abdullah; BEREKET, ABDULLAH; Gibbs, Richard; Gibbs, Richard; Posey, Jennifer; Posey, Jennifer; Lupski, James; Lupski, James

doi:10.1210/jc.2019-00248

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

Atıf İçin Kopyala

Jolly A., Jolly A., Bayram Y., Bayram Y., DEMİRCİOĞLU S., Turan S., ...Daha Fazla

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

Yayın Türü: Makale / Tam Makale
Cilt numarası: 104 Sayı: 8
Basım Tarihi: 2019
Doi Numarası: 10.1210/jc.2019-00248
Dergi Adı: The Journal of clinical endocrinology and metabolism
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.3049-3067
İstanbul Üniversitesi Adresli: Evet

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.