Premature ovarian insufficiency: Genetic causes and treatment options. A literature review

2021 ◽  
Vol 70 (3) ◽  
pp. 75-91
Author(s):  
Valentina M. Denisova ◽  
Maria I. Yarmolinskaya ◽  
Karina A. Zakurayeva

Premature ovarian insufficiency is a syndrome characterized by hypergonadotropic ovarian insufficiency and the reduction of ovarian function before age 40. This leads to reproductive failures, metabolic changes, and a decrease in quality of life. Currently, occult and initial forms of premature ovarian insufficiency, which have their own diagnostic features and management tactics, can be figured out. The frequency of this syndrome is between 1.1 and 3.7% and the tendency for incidence to increase can be seen. This article is a literature review of the data available in the PubMed database (20052020), with international clinical guidelines taken into consideration. The genetic causes of premature ovarian insufficiency, clinical signs of this pathology and treatments options for such patients are included into the review. In addition, some features of assisted reproductive technology within this group are described.

F1000Research ◽  
2017 ◽  
Vol 6 ◽  
pp. 2069 ◽  
Author(s):  
Saioa Torrealday ◽  
Pinar Kodaman ◽  
Lubna Pal

Premature ovarian insufficiency is a complex and relatively poorly understood entity with a myriad of etiologies and multisystem sequelae that stem from premature deprivation of ovarian sex hormones. Timely diagnosis with a clear understanding of the various comorbidities that can arise from estrogen deficiency is vital to appropriately counsel and treat these patients. Prompt initiation of hormone therapy is critical to control the unsolicited menopausal symptoms that many women experience and to prevent long-term health complications. Despite ongoing efforts at improving our understanding of the mechanisms involved, any advancement in the field in recent decades has been modest at best and researchers remain thwarted by the complexity and heterogeneity of the underpinnings of this entity. In contrast, the practice of clinical medicine has made meaningful strides in providing assurance to the women with premature ovarian insufficiency that their quality of life as well as long-term health can be optimized through timely intervention. Ongoing research is clearly needed to allow pre-emptive identification of the at-risk population and to identify mechanisms that if addressed in a timely manner, can prolong ovarian function and physiology.


Author(s):  
Avantika Gupta ◽  
Purnima Tiwari

Premature ovarian insufficiency is waning of ovarian function before the age of 40 years. This hypoestrogenic state is characterised by menstrual irregularities and loss of fertility in the patient. This review narrates evaluation, consequences, and management of this complex entity. Truncation in ovarian physiology at such an early age renders the patient prone for various short- and long-term health consequences which negatively affect physical and psychological well-being of the patients. Therefore, this review emphasises that timely initiation of hormonal therapy is mandatory to mitigate the distressing menopausal and/or other hypoestrogenic symptoms to improve the quality of life of such patients. Although much has been said about premature ovarian insufficiency, many aspects of this condition still need to be explored in order to identify this population subgroup before happening of the catastrophic event and to formulate strategies and interventions to delay the premature cessation of ovarian functions.


2020 ◽  
Vol 14 (3) ◽  
pp. 328-345
Author(s):  
D. V. Blinov ◽  
P. L. Hasan ◽  
A. N. Mnatsakanyan ◽  
D. I. Korabelnikov ◽  
A. T. Safarov ◽  
...  

In this review we summarize current data on prevalence, etiology and pathogenesis resulting in premature ovarian insufficiency (POI). In particular, genetic, autoimmune, metabolic, iatrogenic disorders as well as unfavorable impact of environmental factors represent key pathogenetic mechanisms underlying POI development. Clinical picture of this disease is mainly manifested by oligo- and amenorrhea as well as genitourinary menopausal syndrome (GUMS). Special attention is paid to a link between such clinical signs and psychosocial discomfort not being a life-threatening condition but still able to markedly lower quality of woman’s life and considered as a comorbidity with type 2 diabetes mellitus, osteoporosis and cardiovascular diseases. Hormone replacement therapy (HRT) serves as the first-line therapeutic approach for treating POI, which is performed according to the principles similar to those used to perform menopausal hormone therapy (MHT) in case of natural menopause that should be continued until reaching at least the average age for the onset of menopause. Topical estriol therapy eliminates GUMS symptoms, which in turn positively affects sexual function and woman’s psychosocial status and contributes to improved quality of life. The data from recent studies examining topical estriol therapy in POI demonstrated high efficacy and safety. Finally, we also discuss diverse strategies to support reproductive function in women with POI.


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Jihyun Kim ◽  
Sooseong You

Abstract Purpose Most patients with cancer undergo multiple administrations of anticancer drugs during treatment, resulting in chronic impairment of their reproductive health. As improved treatment options increase cancer survival, it has become increasingly important to address fertility issues in cancer survivors. In this study, we examined the pathophysiological effects of multiple exposures to cyclophosphamide (Cy) on the ovaries of mice and their underlying molecular mechanism. Methods Female C57BL/6 mice were intraperitoneally injected with 100 mg/kg Cy six times over 2 weeks; 4 weeks later, the mice were sacrificed and their ovaries, sera, and oocytes were collected for histological observation, measurement of anti-Müllerian hormone levels, and assessment of oocyte quantity and quality in response to hormonal stimulation. Gene expression changes in Cy-treated ovaries were examined by microarray and bioinformatics analyses. Results After repeated Cy exposure, the anti-Müllerian hormone level was decreased, and follicle loss and impairments in the quality of oocyte were irreversible. The expression levels of genes involved in folliculogenesis, oogenesis, and zona pellucida glycoprotein transcription displayed sustained alterations in Cy-exposed ovaries even after 4 weeks. Conclusion The adverse effects of Cy on ovarian function and oocytes remained even after chemotherapy was complete. Therefore, strategies to prevent ovarian damage or restore ovarian function after treatment are required to safeguard the fertility of young cancer survivors.


2021 ◽  
Vol 1 ◽  
pp. 1605-1614
Author(s):  
K Krisdiyanti ◽  
Dyah Putri Aryati

AbstractThe increasing number of the elderly population is a phenomenom that occurs today. The high level of dependence of the elderly causes the elderly to have the potential to be placed in care homes. The elderly are individuals who hane a high risk of isease and stressors. This, of course, requires efforts to ensure the life of the elderly, not only seen from fulfillment of the needs of the elderly but also the life quality of the eldely. The study aims to describe the quality of life of the elderly who live in care homes. The study used a literature review method by searching for articles in the Pubmed database, and google sholar. The search was conducted by combining keywords: “Elderly, “Elderly people”, “Quality of life”, “WHOQOL-BREF”, and “Nursing home” with the year 2011-2021. Participants in this study were 395 respondents of elderly living in care homes. The results of the literature review of 6 articles showed that there are 73 respondents (18,5%) with low category of life quality, 195 respondents (49,9%) with medium category of life quality, and 127 repondents (32,1%) high category of the life quality. From this study, it can be concluded that the quality of life of the elderly living in care homes is mostly (49,9%) in moderate category. The role of nurses is needed to improve the quality of life of the elderly who live in care homes.Keywords: care homes; elderly; quality of life; WHOQOL-BREF AbstrakTerjadinya peningkatan jumlah populasi lanjut usia merupakan fenomena yang terjadi saat ini. Tingkat ketergantungan lansia yang tinggi mengakibatkan lansia berpontesi untuk ditempatkan di panti sosial. Lansia merupakan individu yang memiliki resiko tinggi dan rentan terhadap penyakit serta stresor. Hal ini tentunya dibutuhkan upaya untuk menjamin hidup lansia, tidak hanya dilihat dari pemenuhan kebutuhan lansia namun juga dilihat dari kualitas hidup lansia. Penelitian ini bertujuan untuk mengetahui gambaran kualitas hidup lansia yang tinggal di panti sosial. Penelitian ini menggunakan metode literature review, untuk pencarian artikel dengan mengakses database Pubmed, dan googlescholar. Pencarian dilakukan dengan mengkombinasi kata kunci: “elderly”, “elderly people”, “Quality of life”, “WHOQOL-BREF”, “Nursing home” dengan batasan tahun 2011-2021. Partisipan pada studi ini adalah lansia yang tinggal di panti sosial dengan total 395 lansia. Hasil penelitian literature review dari 6 artikel menunjukan kualitas hidup lansia dengan kategori rendah 73 responden (18,5%), sedang 195 responden (49,9%) dan tinggi 127 responden (32,1%). Dari penelitian ini diketahui bahwa kualitas hidup lansia yang tinggal di panti sosial sebagian besar (49,9%) dalam kategori sedang. Perlu adanya peran perawat untuk meningkatkan kualitas hidup lansia yang tinggal di panti sosial.Kata kunci : kualitas hidup; lansia; panti sosial; WHOQOL-BREF


2018 ◽  
Vol 24 (4) ◽  
pp. 155-162 ◽  
Author(s):  
A Richardson ◽  
SA Haridass ◽  
E Ward ◽  
J Ayres ◽  
NE Baskind

Objectives To assess compliance with the European Society for Human Reproduction and Embryology (ESHRE) guidelines on the investigation and management of women with premature ovarian insufficiency at the Leeds Teaching Hospitals NHS Trust (LTHT) and to determine whether this varies depending on the clinical setting in which the women present. Study design A retrospective review of all females diagnosed with premature ovarian insufficiency between 1 July 2016 and 30 June 2017, presenting to one of the following clinics: reproductive medicine, specialist menopause, general gynaecology, oncology long-term follow-up, general endocrinology or paediatric endocrinology. Main outcome measures Proportion of patients who had the necessary investigations performed and relevant treatment options discussed. Results 103 women were included in the study. Overall, 40.6% had a karyotype. Screening for the Fragile-X pre-mutation, thyroid peroxidase and 21-hydroxylase antibodies occurred in 7.4%, 11.1% and 13.6% of women, respectively. Only 35.9% had their bone mineral density measured. There was significant variation in the performance of a karyotype (p < 0.001) and thyroid peroxidase antibodies (p < 0.01) between the different clinical settings. Overall, lifestyle advice was offered to 30.1%. Estrogen replacement, contraception, fertility options and bone protection were discussed with 76.0%, 38.4%, 59.0% and 75.0%, respectively. Psychological support was offered to 25.2%. There was significant variation for all apart from contraception. Conclusion The investigation and treatment of women with premature ovarian insufficiency at the LTHT is not consistent with the ESHRE guidelines and requires improvement. Furthermore, there is significant variation in management depending on the department to which the patient initially presents.


2020 ◽  
Vol 2020 ◽  
pp. 1-13
Author(s):  
Hui-Fang Li ◽  
Qi-Hong Shen ◽  
Wen-Jun Chen ◽  
Wei-Min Chen ◽  
Zhang-Feng Feng ◽  
...  

Context. Premature ovarian insufficiency (POI) is one of the difficult gynecological diseases with complex etiologies. Tonifying kidney (bushen) and activating blood (huoxue) prescription (TKABP) is a popular traditional Chinese medicine (TCM) therapy which is commonly applied for POI. However, its efficacy and safety are still controversial. Objective. We carried out this systematic review and meta-analysis to evaluate the effectiveness of TKABP on POI. Methods. The following eight databases were searched from the establishment to September 30, 2019, for randomized controlled trials (RCTs): PubMed, Embase, Cochrane Library, Web of Science, China National Knowledge Infrastructure (CNKI), the Chinese BioMedical database (CBM), Chinese Scientific Journal Database (VIP), and the Wanfang database. The quality of evidence was estimated by the Grading of Recommendations Assessment, Development, and Evaluation (GRADE). Results. Twenty-three RCTs involving 1712 patients with POI were included. Compared to hormone therapy (HT) groups, TKABP groups showed a significantly higher total effective rate (RR: 1.10; 95% CI: 1.04–1.17; P<0.01, I2 = 32%). In addition, TKABP groups revealed a better improvement in terms of serum follicle-stimulating hormone (FSH) levels, serum estradiol (E2) levels, peak systolic velocity (PSV) of ovarian stromal blood, and Kupperman index (KI) score. However, serum luteinizing hormone (LH) levels and ovarian volume (OV) showed no significant statistical difference. Subgroup analyses showed that herbal paste and 3 months of treatment duration had a greater effect on the improvement of hormone levels. Besides, the occurrence of related adverse events in TKABP groups was lower than that in HT groups. Conclusions. Our review suggests that TKABP appears to be an effective and safe measure for patients with POI, and the herbal paste may be superior. However, the methodological quality of included RCTs was unsatisfactory, and it is necessary to verify its effectiveness with furthermore standardized researches of rigorous design.


2016 ◽  
Vol 86 (2) ◽  
pp. 223-228 ◽  
Author(s):  
Anne Bachelot ◽  
Carole Nicolas ◽  
Maud Bidet ◽  
Jérôme Dulon ◽  
Monique Leban ◽  
...  

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