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Acta clinica Croatica, Vol. 55. No. 4., 2016.

Review article

https://doi.org/10.20471/acc.2016.55.04.14

Genetic etiology of primary premature ovarian insufficiency

Maja Franić-Ivanišević ; University Department of Gynecology and Obstetrics, Clinical Center of Serbia, Belgrade, Serbia
Damir Franić orcid id orcid.org/0000-0002-8226-2340 ; Outpatient Clinic for Obstetrics and Gynecology, Rogaška Slatina, Slovenia; School of Medicine, University of Maribor, Maribor, Slovenia
Miomira Ivović ; University Department of Endocrinology, Clinical Center of Serbia, Belgrade, Serbia
Milina Tančić-Gajić ; University Department of Endocrinology, Clinical Center of Serbia, Belgrade, Serbia
Ljiljana Marina ; University Department of Endocrinology, Clinical Center of Serbia, Belgrade, Serbia
Marija Barac ; University Department of Endocrinology, Clinical Center of Serbia, Belgrade, Serbia
Svetlana Vujović ; University Department of Endocrinology, Clinical Center of Serbia, Belgrade, Serbia

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Abstract

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.

Keywords

Primary ovarian insufficiency – etiology; Primary ovarian insufficiency – genetics

Hrčak ID:

178101

URI

https://hrcak.srce.hr/178101

Publication date:

15.12.2016.

Article data in other languages: croatian

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