CAUSES, DIAGNOSTICS AND PSYCHOLOGICAL IMPACT OF PREMATURE OVARIAN INSUFFICIENCY- REVIEW OF LITERATURE

Natalia Karpowicz; Natalia Pacocha; Julia Kaszucka; Justyna Popczyńska; Agnieszka Raczyńska; Małgorzata Krzyżanowska; Marta Zgierska; Jakub Jędrychowski; Kinga Kosiec; Oliwia Krzemień

doi:10.31435/rsglobal_ijitss/30092024/8246

Natalia Karpowicz Faculty of Medicine, Medical University of Warsaw, Poland https://orcid.org/0009-0000-6636-9546
Natalia Pacocha Faculty of Medicine, Medical University of Warsaw, Poland https://orcid.org/0009-0001-3370-9521
Julia Kaszucka Faculty of Medicine, Medical University of Warsaw, PolanD https://orcid.org/0000-0002-9017-3604
Justyna Popczyńska Faculty of Medicine, Medical University of Warsaw, Poland https://orcid.org/0009-0008-7654-932X
Agnieszka Raczyńska Faculty of Medicine, Medical University of Warsaw, Poland https://orcid.org/0000-0002-0423-3325
Małgorzata Krzyżanowska Faculty of Medicine, Medical University of Warsaw, Poland https://orcid.org/0009-0003-6287-5777
Marta Zgierska Faculty of Medicine, Medical University of Warsaw, Poland https://orcid.org/0009-0007-4472-0631
Jakub Jędrychowski Faculty of Medicine, Medical University of Warsaw, Poland https://orcid.org/0009-0002-8496-292X
Kinga Kosiec Faculty of Medicine, Medical University of Gdańsk, Poland https://orcid.org/0009-0008-8756-3012
Oliwia Krzemień Faculty of Medicine, Medical University of Gdańsk, Poland https://orcid.org/0009-0003-1863-3025

DOI: https://doi.org/10.31435/rsglobal_ijitss/30092024/8246

Keywords: Premature Ovarian Insufficiency, Poi, Oncofertility, Psychological Effects, Hormonal Replacement Therapy

Abstract

Premature ovarian insufficiency (POI) before the age of 35 occurs in 1 in 250 women. It can develop on a genetic basis, but also may be a consequence of iatrogenic interventions, such as surgery, radiation or chemotherapy. The patients with impaired ovarian endocrine function may experience disruptive menopausal symptoms. Estrogens deficiency consequences include increased risk of osteoporotic fractures and cardiovascular events. Lack of folliculogenesis and ovulation results in infertility. Detailed review of the literature was conducted to summarize current knowledge about causes, diagnostics, psychological impact and novel therapeutic methods in POI. Review of the literature was conducted by searching the PubMed database and Google Scholar. Checking the literature was carried out by the following keywords: ‘premature ovarian insufficiency’, ‘POI’, ‘etiology’, ‘symptomatology’, ‘treatment’, ‘pathogenesis’, ‘genes’, ‘mutations’, ‘psychological effects’, ‘oncofertility’. The multifactorial aetiology of POI, including genetic, autoimmune, iatrogenic, and environmental factors, highlights the complexity of this condition and the need for a multidisciplinary approach to diagnosis and treatment. Progress in molecular methods of genetic diagnostics, such as whole-genome sequencing, may help identify causative mutations in a larger proportion of idiopathic cases. Hormonal replacement therapy is the gold standard for alleviating menopausal symptoms, maintaining bone density, and reducing cardiovascular risk. The psychological impact of POI cannot be underestimated, with many patients experiencing significant emotional distress and dissatisfaction with the manner in which their diagnosis is delivered. Healthcare providers must prioritize sensitive and informative communication, while also referring patients to appropriate sources of emotional support.

References

Rudnicka E, Kruszewska J, Klicka K et al. (2018) “Premature ovarian insufficiency - aetiopathology, epidemiology, and diagnostic evaluation.” Prz Menopauzalny, 17(3),105-108.

Wesevich V, Kellen AN, Pal L (2020) “Recent advances in understanding primary ovarian insufficiency” F1000Research, 9, F1000 Faculty Rev-1101. https://doi.org/10.12688/f1000research.26423.1.

Golezar S, Ramezani Tehrani F, Khazaei S et al. (2019) “The global prevalence of primary ovarian insufficiency and early menopause: a meta-analysis.” Climacteric: the journal of the International Menopause Society, 22(4), 403–411. https://doi.org/10.1080/13697137.2019.1574738.

European Society for Human Reproduction and Embryology (ESHRE) Guideline Group on POI, Webber L, Davies M, Anderson R et al. (2016) ‘ESHRE Guideline: management of women with premature ovarian insufficiency.” Human reproduction, 31(5), 926–937. https://doi.org/10.1093/humrep/dew027.

Nelson LM (2009) “Clinical practice. Primary ovarian insufficiency.” The New England journal of medicine, 360(6), 606–614. https://doi.org/10.1056/NEJMcp0808697.

Tucker EJ, Grover SR, Bachelot A et al. (2016) “Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum.” Endocrine reviews, 37(6), 609–635. https://doi.org/10.1210/er.2016-1047.

Stuenkel CA, Gompel A (2023) “Primary Ovarian Insufficiency.” N. Engl. J. Med, 388, 154–163..

Bondy CA (2007) “Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.” J Clin Endocrinol Metab, 92,10–25.

Murray A, Schoemaker MJ, Bennett CE et al. (2014) “Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency.” Genetics in Medicine 16, 19–24.

Ke H, Tang S, Guo T et al. (2023) “Landscape of pathogenic mutations in premature ovarian insufficiency.” Nature Medicine 29, 483–492.

Tucker EJ, Grover SR, Bachelot A et al. (2016) “Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum.” Endocrine reviews, 37(6), 609–635. https://doi.org/10.1210/er.2016-1047.

Dipietromaria A, Benayoun B, Todeschini AL et al. (2009) “Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems.” Human Molecular Genetics, 18(17), 3324–3333.

Jin H, Won M, Park SE et al. (2016) “FOXL2 Is an Essential Activator of SF-1-Induced Transcriptional Regulation of Anti-Müllerian Hormone in Human Granulosa Cells.” PLoS One, 11(7).

Hsieh TB, Jin JP (2024) “Loss of Calponin 2 causes premature ovarian insufficiency in mice” J Ovarian Res, 17:37.

Welt CK, Falorni, A, Taylor AE et al. (2005) “Selective Theca Cell Dysfunction in Autoimmune Oophoritis Results in Multifollicular Development, Decreased Estradiol, and Elevated Inhibin B Levels.” The Journal of Clinical Endocrinology & Metabolism 90, 3069–3076.

Nelson LM (2001) “Autoimmune ovarian failure: comparing the mouse model and the human disease.” J Soc Gynecol Investig. Jan-Feb;8. 55-7.

Szymanska KJ, Tan X, Oktay K (2020) “Unraveling the mechanisms of chemotherapy-induced damage to human primordial follicle reserve: road to developing therapeutics for fertility preservation and reversing ovarian aging.” Mol Hum Reprod, 26:553.

Montjean D, Godin Pagé MH, Bélanger MC et al. (2023) “An Overview of E-Cigarette Impact on Reproductive Health.” Life 13, 827.

Kong L, Tang M, Zhang T et al. (2014) “Nanoparticles Exposure and Reproductive Toxicity in Healthy Adult Rats.Int.” J. Mol. Sc,15, 21253–21269.

Wang HX, Wang XY, Zhou DX et al. (2012) “Effects of low-dose, long-term formaldehyde exposure on the structure and functions of the ovary in rats.” Toxicol. Ind. Heal, 29, 609–615.

Ishizuka B (2021) “Current Understanding of the Etiology, Symptomatology, and Treatment Options in Premature Ovarian Insufficiency (POI).” Front Endocrinol, Feb 25, 12:626924.

Sullivan SD, Sarrel PM, Nelson LM (2016) “Hormone replacement therapy in young women with primary ovarian insufficiency and early menopause.” Fertility and Sterility, 106, 1588–1599.

Davis SR, van der Mooren, MJ, van Lunsen, Rik HW et al. (2006) “Efficacy and safety of a testosterone patch for the treatment of hypoactive sexual desire disorder in surgically menopausal women: a randomized, placebo-controlled trial.” Menopause, 13(3): 387-396.

Cartwright B, Robinson J, Seed PT et al. (2016) “Hormone Replacement Therapy Versus the Combined Oral Contraceptive Pill in Premature Ovarian Failure: A Randomized Controlled Trial of the Effects on Bone Mineral Density.” The Journal of Clinical Endocrinology & Metabolism 101, 3497–3505.

Nelson LM (2009) “Primary ovarian insufficiency.” New England Journal of Medicine 360.6: 606-614.

Muka T, Oliver-Williams C, Kunutsor S et al. (2016) “Association of Age at Onset of Menopause and Time Since Onset of Menopause With Cardiovascular Outcomes, Intermediate Vascular Traits, and All-Cause Mortality: A Systematic Review and Meta-analysis.” JAMA Cardiol, 1(7):767–776.

Rocca WA, Grossardt BR, Shuster LT et al. (2012) “Hysterectomy, oophorectomy, estrogen, and the risk of dementia.” Neurodegener. Dis,10, 175–178.

Nelson LM, Covington SN, Rebar RW (2005) “An update: spontaneous premature ovarian failure is not an early menopause.” Fertil Steril, May;83(5):1327-32.

Takehara Y, Yabuuchi A, Ezoe K et al. (2013) “Therestorative effects of adipose-derived mesenchymal stem cells on damaged ovarian function.” Lab. Investig, 93, 181–193.

Wang F, Wang L, Yao X et al. (2013) “Humanamniotic epithelial cells can differentiate into granulosa cells and restorefolliculogenesis in a mouse model of chemotherapy-induced premature ovarian failure.” Stem Cell Res. Ther, 4, 124.

Singer D Bahrehbar K, Rezazadeh Valojerdi M, Esfandiari F et al. (2020) “Humanembryonic stem cellderivedmesenchymal stem cells improved premature ovarian failure.” World J. Stem Cells, 12, 857–878.

Igboeli P, El Andaloussi A, Sheikh U et al. (2020) “Intraovarian injection of autologoushumanmesenchymal stem cells increases estrogen production and reduces menopausalsymptoms in women with premature ovarian failure: Two case reports and a review of the literature.” J. Med. Case Rep, 14,108.

Gupta S, Lodha P, Karthick MS et al. (2018) “Role of Autologous Bone Marrow-Derived Stem Cell Therapy for Follicular Recruitment in Premature Ovarian Insufficiency: Review of Literature and a Case Report of World’s First Baby with Ovarian Autologous Stem Cell Therapy in a Perimenopausal Woman of Age 45 Year.” J. Hum. Reprod.11, 125–130.

Herraiz S, Romeu M, Buigues A et al. (2018) “Autologous stem cell ovarian transplantation to increase reproductive potential in patients who are poor responders.” Fertil. Steril, 110, 496–505.

Zafardoust S, Kazemnejad S, Darzi M et al. (2020) “Improvement of Pregnancy Rate and Live Birth Rate in Poor Ovarian Responders by Intraovarian Administration of Autologous Menstrual Blood Derived-Mesenchymal Stromal Cells: Phase I/II Clinical Trial.” Stem Cell Rev Rep, Aug;16(4):755-763.

Kim HK, Kim TJ (2024) “Current Status and Future Prospects of Stem Cell Therapy for Infertile Patients with Premature Ovarian Insufficiency.” Biomolecules 14, 242.

Cakiroglu Y, Yuceturk A, Karaosmanoglu O et al. (2022) “Ovarian reserve parameters and IVF outcomes in 510 women with poor ovarian response (POR) treated with intraovarian injection of autologous platelet rich plasma (PRP).” Aging 14, 2513–2523.

Pacheco F, Oktay K (2017) “Current Success and Efficiency of Autologous Ovarian Transplantation: A Meta-Analysis.” Reprod. Sci, 24, 1111–1120.

Singer D (2019) “Managing the psychological sequelae of POI.” Post Reprod Health, Sep;25(3):150-155.

Groff AA, Covington SN, Halverson LR et al. (2005) “Assessing the emotional needs of women with spontaneous premature ovarian failure.” Fertility and Sterility, 83, 1734–1741.

Buckman R (1992) “Breaking bad news: a guide for health care professionals” Baltimore: Johns Hopkins University Press, 15.

CAUSES, DIAGNOSTICS AND PSYCHOLOGICAL IMPACT OF PREMATURE OVARIAN INSUFFICIENCY- REVIEW OF LITERATURE

Abstract

References

Most read articles by the same author(s)