Xue Jiao1,2,3,4, Huihui Zhang1,2,3,5, Hanni Ke1,2,3, Jiangtao Zhang1,2,3, Lei Cheng1,2,3, Yixun Liu6, Yingying Qin1,2,3, Zi-Jiang Chen1,2,3,7,8. 1. Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated with Shandong University, Jinan, 250001, Shandong, China. 2. National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, 250001, Shandong, China. 3. The Key Laboratory of Reproductive Endocrinology, Shandong University, Ministry of Education, Jinan, 250001, Shandong, China. 4. Suzhou Institute of Shandong University, Suzhou, 215123, Jiangsu, China. 5. Center for Reproductive Medicine, Linyi People's Hospital, Linyi, 276003, Shandong, China. 6. State Key Laboratory of Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, 100101, China. 7. Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200135, China. 8. Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, 200135, China.
Abstract
Context: Premature ovarian insufficiency (POI) is highly heterogeneous, both in phenotype and etiology. They are not yet clearly stated and correlated. Objective: To characterize clinical presentations of a large, well-phenotyped cohort of women with POI, and correlate phenotypes with etiologies to draw a comprehensive clinical picture of POI. Design, Patients, Interventions, and Main Outcome Measures: In this retrospective study, a total of 955 Chinese women with overt POI between 2006 and 2015 were systemically evaluated and analyzed. The phenotypic features, including menstrual characteristics, hormone profiles, ovarian ultrasonography/biopsy, pregnancy/family history, and genetic/autoimmune/iatrogenic etiologies were assessed and further compared within different subgroups. Results: Among 955 women with POI, 85.97% presented with secondary amenorrhea (SA) and 14.03% with primary amenorrhea (PA). PA represented the most severe ovarian dysfunction and more chromosomal aberrations than SA. The decline of ovarian function in patients with SA progressed quickly. They had shortened reproductive periods (approximately 10 years) and developed amenorrhea within 1 to 2 years after menstrual irregularity. The ovaries were invisible or small, and the presence of follicles (28.43%) was correlated with other good reproductive indicators. Familial patients (12.25%) manifested better ovarian status and fewer chromosomal aberrations than sporadic patients. The etiologies consisted of genetic (13.15%), autoimmune (12.04%), and iatrogenic (7.29%), approximately 68% remaining idiopathic. There were significant differences among different etiologies, with the genetic group representing the most severe phenotype. Conclusion: Our results regarding distinct phenotypic characteristics and association with different etiologies further confirmed the high heterogeneity of POI. Additional longitudinal clinical studies and pathogenesis research are warranted.
Context:Premature ovarian insufficiency (POI) is highly heterogeneous, both in phenotype and etiology. They are not yet clearly stated and correlated. Objective: To characterize clinical presentations of a large, well-phenotyped cohort of women with POI, and correlate phenotypes with etiologies to draw a comprehensive clinical picture of POI. Design, Patients, Interventions, and Main Outcome Measures: In this retrospective study, a total of 955 Chinese women with overt POI between 2006 and 2015 were systemically evaluated and analyzed. The phenotypic features, including menstrual characteristics, hormone profiles, ovarian ultrasonography/biopsy, pregnancy/family history, and genetic/autoimmune/iatrogenic etiologies were assessed and further compared within different subgroups. Results: Among 955 women with POI, 85.97% presented with secondary amenorrhea (SA) and 14.03% with primary amenorrhea (PA). PA represented the most severe ovarian dysfunction and more chromosomal aberrations than SA. The decline of ovarian function in patients with SA progressed quickly. They had shortened reproductive periods (approximately 10 years) and developed amenorrhea within 1 to 2 years after menstrual irregularity. The ovaries were invisible or small, and the presence of follicles (28.43%) was correlated with other good reproductive indicators. Familial patients (12.25%) manifested better ovarian status and fewer chromosomal aberrations than sporadic patients. The etiologies consisted of genetic (13.15%), autoimmune (12.04%), and iatrogenic (7.29%), approximately 68% remaining idiopathic. There were significant differences among different etiologies, with the genetic group representing the most severe phenotype. Conclusion: Our results regarding distinct phenotypic characteristics and association with different etiologies further confirmed the high heterogeneity of POI. Additional longitudinal clinical studies and pathogenesis research are warranted.
Authors: Myung Jae Jeon; Young Sik Choi; Il Dong Kim; Tracy Criswell; Anthony Atala; James J Yoo; John D Jackson Journal: Reprod Sci Date: 2021-01-28 Impact factor: 3.060
Authors: Sarah Eskenazi; Anne Bachelot; Justine Hugon-Rodin; Genevieve Plu-Bureau; Anne Gompel; Sophie Catteau-Jonard; Denise Molina-Gomes; Didier Dewailly; Catherine Dodé; Sophie Christin-Maitre; Philippe Touraine Journal: J Endocr Soc Date: 2021-03-01
Authors: Asma Sassi; Julie Désir; Véronique Janssens; Martina Marangoni; Dorien Daneels; Alexander Gheldof; Maryse Bonduelle; Sonia Van Dooren; Sabine Costagliola; Anne Delbaere Journal: F S Rep Date: 2020-08-22