Advances in the Molecular Pathophysiology, Genetics, and Treatment of Primary Ovarian Insufficiency

被引：147

作者：

Huhtaniemi, Ilpo ^{[1
]}

Hovatta, Outi ^{[2
,3
]}

La Marca, Antonio ^{[4
]}

Livera, Gabriel ^{[5
]}

Monniaux, Danielle ^{[6
]}

Persani, Luca ^{[7
,8
]}

Heddar, Abdelkader ^{[9
,10
]}

Jarzabek, Katarzyna ^{[11
]}

Laisk-Podar, Triin ^{[12
,13
]}

Salumets, Andres ^{[12
,13
]}

Tapanainen, Juha S. ^{[14
,15
,16
,17
]}

Veitia, Reiner A. ^{[18
]}

Visser, Jenny A. ^{[19
]}

Wieacker, Peter ^{[20
]}

Wolczynski, Slawomir ^{[21
]}

Misrahi, Micheline ^{[9
,10
]}

机构：

[1] Imperial Coll London, Inst Reprod & Dev Biol, Dept Surg & Canc, Hammersmith Campus, London W12 0NN, England

[2] Karolinska Inst, Stockholm, Sweden

[3] Nova Southeastern Univ, Ft Lauderdale, FL 33314 USA

[4] Univ Modena & Reggio Emilia, Mother Infant Dept, I-41100 Modena, Italy

[5] Univ Paris Saclay, Lab Dev Gonads, Unit Genet Stabil Stem Cells & Radiat UMR 967,Uni, INSERM,CEA DRF iRCM SCSR,Univ Paris Diderot,Sorbo, F-92265 Fontenay Aux Roses, France

[6] Univ Tours, CNRS, PRC UMR85, Physiol Reprod & Behav,INRA,CNRS,IFCE, F-37380 Nouzilly, France

[7] Univ Milan, Dept Clin Sci & Community Hlth, I-20122 Milan, Italy

[8] Ist Auxol Italiano, Div Endocrine & Metab Dis, I-20149 Milan, Italy

[9] Univ Paris Sud, Med Fac, F-94275 Le Kremlin Bicetre, France

[10] Univ Paris Saclay, Bicetre Hosp, F-94275 Le Kremlin Bicetre, France

[11] Polish Acad Sci, Inst Anim Reprod & Food Res, Dept Biol & Pathol Human Reprod, PL-10748 Olsztyn, Poland

[12] Univ Tartu, Inst Clin Med, Womens Clin, L Puusepa 8, Tartu, Estonia

[13] Competence Ctr Hlth Technol, EE-50410 Tallinn, Estonia

[14] Univ Helsinki, Dept Obstet & Gynecol, Helsinki 00029, Finland

[15] Helsinki Univ Hosp, Helsinki 00029, Finland

[16] Univ Oulu, Dept Obstet & Gynecol, Univ Hosp Oulu, Med Res Ctr Oulu, POB 23, FI-90029 Oulu, Finland

[17] PEDEGO Res Unit, POB 23, FI-90029 Oulu, Finland

[18] Univ Paris Diderot Paris 7, Inst Jacques Monod, Mol Oncol & Ovarian Pathol, 15 Rue Helene Brion, Paris 13, France

[19] Erasmus Univ, Dept Internal Med, Med Ctr, POB 2040, NL-3000 CA Rotterdam, Netherlands

[20] Univ Hosp Munster, Inst Human Genet, Vesaliusweg 12-14, D-48149 Munster, Germany

[21] Med Univ Bialystok, Dept Reprod & Gynecol Endocrinol, Sklodowskiej 24A, PL-15276 Bialystok, Poland

来源：

TRENDS IN ENDOCRINOLOGY AND METABOLISM | 2018年 / 29卷 / 06期

关键词：

FOLLICLE-STIMULATING-HORMONE; TRANSFER-RNA SYNTHETASE; OF-FUNCTION MUTATIONS; PERRAULT SYNDROME; IN-VITRO; PRIMORDIAL FOLLICLE; FSH RECEPTOR; HEARING-LOSS; PREMATURE MENOPAUSE; MISSENSE MUTATION;

D O I：

10.1016/j.tem.2018.03.010

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Primary ovarian insufficiency (POI) affects similar to 1% of women before 40 years of age. The recent leap in genetic knowledge obtained by next generation sequencing (NGS) together with animal models has further elucidated its molecular pathogenesis, identifying novel genes/pathways. Mutations of > 60 genes emphasize high genetic heterogeneity. Genome-wide association studies have revealed a shared genetic background between POI and reproductive aging. NGS will provide a genetic diagnosis leading to genetic/therapeutic counseling: first, defects in meiosis or DNA repair genes may predispose to tumors; and second, specific gene defects may predict the risk of rapid loss of a persistent ovarian reserve, an important determinant in fertility preservation. Indeed, a recent innovative treatment of POI by in vitro activation of dormant follicles proved to be successful.

引用

页码：400 / 419

页数：20

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