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Premature Ovarian Insufficiency: Phenotypic Characterization Within Different Etiologies
- Source :
- The Journal of Clinical Endocrinology & Metabolism. 102:2281-2290
- Publication Year :
- 2017
- Publisher :
- The Endocrine Society, 2017.
-
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.
- Subjects :
- Adult
0301 basic medicine
medicine.medical_specialty
Biopsy
Endocrinology, Diabetes and Metabolism
Karyotype
Clinical Biochemistry
Context (language use)
Ovary
Primary Ovarian Insufficiency
Premature ovarian insufficiency
Biochemistry
Cohort Studies
03 medical and health sciences
0302 clinical medicine
Endocrinology
Internal medicine
medicine
Humans
Genetic Predisposition to Disease
Family history
Amenorrhea
Reproductive History
Autoantibodies
Retrospective Studies
Ultrasonography
Chromosome Aberrations
Pregnancy
030219 obstetrics & reproductive medicine
business.industry
Biochemistry (medical)
Age Factors
Retrospective cohort study
medicine.disease
Parity
Phenotype
030104 developmental biology
medicine.anatomical_structure
Mutation
Etiology
Female
medicine.symptom
business
Subjects
Details
- ISSN :
- 19457197 and 0021972X
- Volume :
- 102
- Database :
- OpenAIRE
- Journal :
- The Journal of Clinical Endocrinology & Metabolism
- Accession number :
- edsair.doi.dedup.....3565e106d2f0578a04fa84ff042d04b2