Genetic etiology of primary premature ovarian insufficiency

• Main Authors: Maja Franić-Ivanišević, Damir Franić, Miomira Ivović, Milina Tančić-Gajić, Ljiljana Marina, Marija Barac, Svetlana Vujović
• Format: Article
• Language: English
• Published: Sestre Milosrdnice University hospital, Institute of Clinical Medical Research 2016-01-01
• Series: Acta Clinica Croatica
• Subjects: Primary ovarian insufficiency – etiology; Primary ovarian insufficiency – genetics
• Online Access: http://hrcak.srce.hr/file/262436

Primary premature ovarian insufficiency (PPOI) is characterized by hypergonadotropic amenorrhea and hypoestrogenism in women under 40 years of age. PPOI incidence is 1:10,000 in women aged 18-25, 1:1000 in women aged 25-30 and 1:100 in women aged 35-40. In 10%-28% of cases, PPOI causes primary and in 4%-18% secondary amenorrhea. The process is a consequence of accelerated oocyte atresia, diminished number of germinated cells, and central nervous system aging. Specific genes are responsible for the control of oocyte number undergoing the ovulation process and the time to cessation of the reproductive function. A positive family history of PPOI is found in 15% of women with PPOI, indicating the existing genetic etiology. Primary POI comprises genetic aberrations linked to chromosome X (monosomy, trisomy, translocation, deletion) or to autosomal chromosome. Secondary POI implies surgical removal of ovaries, chemotherapy and radiotherapy, and infections. Diagnostic criteria include follicle stimulating hormone level >40 IU/L and estradiol level <50 pmol/L.