GENETIC ETIOLOGY OF PRIMARY PREMATURE OVARIAN INSUFFICIENCY

被引:15
|
作者
Franic-Ivanisevic, Maja [1 ]
Franic, Damir [2 ,3 ]
Ivovic, Miomira [4 ]
Tancic-Gajic, Milina [4 ]
Marina, Ljiljana [4 ]
Barac, Marija [4 ]
Vujovic, Svetlana [4 ]
机构
[1] Clin Ctr Serbia, Univ Dept Gynecol & Obstet, Belgrade, Serbia
[2] Outpatient Clin Obstet & Gynecol, Rogashka Slatina, Slovenia
[3] Univ Maribor, Sch Med, Maribor, Slovenia
[4] Clin Ctr Serbia, Univ Dept Endocrinol, Belgrade, Serbia
关键词
Primary ovarian insufficiency - etiology; Primary ovarian insufficiency - genetics; ANDROGEN RECEPTOR GENE; CANDIDATE GENES; FAILURE; ESTROGEN; POLYMORPHISMS; MUTATION; INHIBIN; WOMEN; FOLLICULOGENESIS; GALACTOSEMIA;
D O I
10.20471/acc.2016.55.04.14
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:629 / 635
页数:7
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