4,160 results match your criteria Ovarian Insufficiency


A novel variant in AIRE causing a rare, non‑classical autoimmune polyendocrine syndrome type 1.

Mol Med Rep 2020 Jun 12. Epub 2020 Jun 12.

Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, P.R. China.

Autoimmune polyendocrine syndrome type 1 (APS‑1) is a rare inherited autoimmune disease, characterized by a classic triad, including chronic mucocutaneous candidiasis, primary adrenocortical insufficiency and hypoparathyroidism. The present study investigated phenotypes and pathogenic variants in a Chinese woman with non‑classical APS‑1. Disease‑associated variants in a patient with APS‑1 were identified via targeted next generation sequencing and the variant was confirmed via Sanger sequencing. Read More

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http://dx.doi.org/10.3892/mmr.2020.11227DOI Listing

hUMSC transplantation restores ovarian function in POI rats by inhibiting autophagy of theca-interstitial cells via the AMPK/mTOR signaling pathway.

Stem Cell Res Ther 2020 Jul 3;11(1):268. Epub 2020 Jul 3.

College of Basic Medicine & Institute of Reproductive Diseases, Binzhou Medical University, Yantai, 264003, Shandong, China.

Background: Previous studies of primary ovarian insufficiency (POI) have focused on granulosa cells (GCs) and ignored the role of theca-interstitial cells (TICs). This study aims to explore the mechanism of the protective effects of human umbilical cord-derived mesenchymal stem cells (hUMSCs) on ovarian function in POI rats by regulating autophagy of TICs.

Methods: The POI model was established in rats treated with cisplatin (CDDP). Read More

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http://dx.doi.org/10.1186/s13287-020-01784-7DOI Listing

An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.

Clin Genet 2020 Jul 2. Epub 2020 Jul 2.

Université de Paris, Paris, France.

Primary ovarian insufficiency (POI) implies the cessation of menstruation for several months in women before the age of 40 years and is a major cause of infertility. The study of the contribution of genetic factors to POI has been fueled by the use of whole exome sequencing (WES). Here, to uncover novel causative pathogenic variants and risk alleles, WES has been performed in 12 patients with familial POI (8 unrelated index cases and 2 couples of sisters) and 6 women with early menopause and family history of POI (4 index cases and 1 couple of sisters). Read More

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http://dx.doi.org/10.1111/cge.13803DOI Listing

Human papillomavirus vaccine-associated premature ovarian insufficiency and related adverse events: data mining of Vaccine Adverse Event Reporting System.

Sci Rep 2020 Jul 1;10(1):10762. Epub 2020 Jul 1.

Department of Pharmacy, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing Key Laboratory of Pediatrics, Chongqing, 400014, China.

We detected disproportionate reports of premature ovarian insufficiency (POI) and related events, including amenorrhea, menstruation irregular, FSH increased, and premature menopause, following human papillomavirus (HPV) vaccine from FDA Vaccine Adverse Event Reporting System (VAERS). The signal was detected by the methods of Bayesian Confidence Propagation Neural Network (BCPNN) and Multi-item Gamma Poisson Shrinker (MGPS). When both methods detected a positive result, a signal was generated. Read More

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http://dx.doi.org/10.1038/s41598-020-67668-1DOI Listing

The PARP inhibitor, olaparib, depletes the ovarian reserve in mice: implications for fertility preservation.

Hum Reprod 2020 Jun 30. Epub 2020 Jun 30.

Ovarian Biology Laboratory, Biomedicine Discovery Institute, Department of Anatomy and Developmental Biology, Stem Cells and Development Program, Monash University, Clayton, VIC 3800, Australia.

Study Question: What is the impact of the poly(ADP-ribose) polymerase (PARP) inhibitor, olaparib, alone or in combination with chemotherapy on the ovary in mice?

Summary Answer: Olaparib treatment, when administered alone, depletes primordial follicle oocytes, but olaparib does not exacerbate chemotherapy-mediated ovarian follicle loss in mice.

What Is Known Already: The ovary contains a finite number of oocytes stored within primordial follicles, which give rise to all mature ovulatory oocytes. Unfortunately, they are highly sensitive to exogenous DNA damaging insults, such as cytotoxic cancer treatments. Read More

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http://dx.doi.org/10.1093/humrep/deaa128DOI Listing

Effects of Hormone Replacement Therapy on Bone Mass after Allogeneic Hematopoietic Stem Cell Transplantation.

J Clin Endocrinol Metab 2020 Jun 27. Epub 2020 Jun 27.

Division of Hematology, Department of Internal Medicine, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Context And Objectives: This study aimed to assess the effects of hormone replacement therapy (HRT) on bone mineral density (BMD) in young females who underwent allogeneic hematopoietic stem cell transplantation (HSCT).

Participants And methods: The retrospective cohort included 234 female patients with premature ovarian insufficiency (POI) who underwent allogeneic HSCT between April 2009 and April 2016 at Seoul St. Mary's Hospital in Seoul, Korea. Read More

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http://dx.doi.org/10.1210/clinem/dgaa406DOI Listing

Can hormone therapy modify pelvic floor muscle assessment and symptoms within women with premature ovarian insufficiency?

Eur J Obstet Gynecol Reprod Biol 2020 Jun 16. Epub 2020 Jun 16.

Rua Alexander Fleming, 101, Cidade Universitária, Campinas, 13083-881, Brazil.

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http://dx.doi.org/10.1016/j.ejogrb.2020.06.015DOI Listing

Comparative study of assisted reproductive outcomes between young patients with occult premature ovarian insufficiency and advanced-age patients.

J Int Med Res 2020 Jun;48(6):300060520934656

Department of Gynecology, First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

Objective: The purpose of this study was to compare the pregnancy outcomes among young patients with occult premature ovarian insufficiency (OPOI), advanced-age patients with diminished ovarian reserve (DOR), and advanced-age patients with normal ovarian reserve.

Methods: We retrospectively reviewed 324 women who underwent their first cycles of fertilization/intracytoplasmic sperm injection. The women were divided into the following groups: young women with OPOI, advanced-age women with DOR, and advanced-age women with normal ovarian reserve. Read More

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http://dx.doi.org/10.1177/0300060520934656DOI Listing

'My relationships have changed because I've changed': biographical disruption, personal relationships and the formation of an early menopausal subjectivity.

Sociol Health Illn 2020 Jun 25. Epub 2020 Jun 25.

Monash Centre for Health Research and Implementation, Monash University, Melbourne, VIC, Australia.

Early menopause (EM) or premature ovarian insufficiency (POI) can disrupt gendered and age-related expectations associated with perceived 'normative' biographies for young adult women, with implications for subjectivity and relationships. While previous qualitative research has concentrated on the impacts of EM/POI on biography and sense of self, in this article, we examine the enmeshment of personal relationships with the formation of early menopausal subjectivities. Drawing on research exploring concepts of 'biographical disruption' and personal relationships, and theoretical work on social norms and subject formation, we present findings from a narrative thematic analysis of 25 interviews with women diagnosed with spontaneous or medically induced EM/POI. Read More

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http://dx.doi.org/10.1111/1467-9566.13143DOI Listing

Polycystic Ovary Syndrome, Subfertility and Vitamin D Deficiency.

J Coll Physicians Surg Pak 2020 May;30(5):545-546

Department of Biological and Biomedical Sciences, The Aga khan university, Karachi, Pakistan.

Polycystic ovarian syndrome (PCOS) is the most common endocrine female disorder, affecting 4-18% women of reproductive age. The prevalence of PCOS in South Asian women, especially in Pakistani women, is much higher (52%) as compared to white population (20 - 25% in UK). In Pakistan, vitamin D status displays 31. Read More

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http://dx.doi.org/10.29271/jcpsp.2020.05.545DOI Listing

Relationship and sexual experiences in women with early onset oestrogen deficiency: comparison between women with Turner syndrome and premature ovarian insufficiency.

Clin Endocrinol (Oxf) 2020 Jun 24. Epub 2020 Jun 24.

Reproductive Medicine Unit, University College London Hospitals, London, UK.

Objective: Age at first date and sexual intercourse have been observed to be delayed in women with Turner syndrome (TS), with delayed puberty being the main factor. We sought to assess relationship and sexual experiences comparing women with TS and premature ovarian insufficiency (POI).

Design: Cross-sectional observational study. Read More

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http://dx.doi.org/10.1111/cen.14271DOI Listing

Diminished Ovarian Reserve in Girls and Adolescents with Trisomy X Syndrome.

Reprod Sci 2020 Jun 23. Epub 2020 Jun 23.

Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, 80045, USA.

An extra X chromosome occurs in ~ 1 in 1000 females, resulting in a karyotype 47,XXX also known as trisomy X syndrome (TXS). Women with TXS appear to be at increased risk for premature ovarian insufficiency; however, very little research on this relationship has been conducted. The objective of this case-control study is to compare ovarian function, as measured by anti-mullerian hormone (AMH) levels, between girls with TXS and controls. Read More

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http://dx.doi.org/10.1007/s43032-020-00216-4DOI Listing

Bone mass in women with premature ovarian insufficiency: a comparative study between hormone therapy and combined oral contraceptives.

Menopause 2020 Jun 22. Epub 2020 Jun 22.

Department of Obstetrics and Gynecology, University of Campinas, Campinas, Brazil.

Objective: The aim of the study was to evaluate whether combined oral contraceptives (COCs) can be used as hormone therapy (HT) to preserve bone mineral density (BMD) in women with premature ovarian insufficiency (POI).

Methods: An observational study of women with POI comparing the use of COC (ethinylestradiol 30 μg + levonorgestrel, continuously) with: low-dose HT (continuous conjugated estrogen 0.625 mg plus medroxyprogesterone or continuous estradiol [E2] 1 mg + norethisterone), high-dose HT (continuous conjugated estrogen 1. Read More

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http://dx.doi.org/10.1097/GME.0000000000001592DOI Listing

Recent trends in stem cell therapy for premature ovarian insufficiency and its therapeutic potential: a review.

J Ovarian Res 2020 Jun 23;13(1):74. Epub 2020 Jun 23.

Department of Biomedical Science, CHA University, Seongnam, 13488, Republic of Korea.

Stem cell therapy is attracting attention in the field of regenerative medicine and is advancing rapidly. Many recent studies have applied stem cell therapy to treat reproductive system diseases; however, data are not yet available as to whether this therapy shows enhanced therapeutic effects. This paper analyzes recent preclinical studies on stem cell therapy for ovarian dysfunction in several types of animal models. Read More

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http://dx.doi.org/10.1186/s13048-020-00671-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313218PMC

Mapping premature ovarian insufficiency and potential environmental factors: A tool for triggering in-depth research of the problem in Slovenia.

Geospat Health 2020 Jun 17;15(1). Epub 2020 Jun 17.

University of Ljubljana, Faculty of Medicine, Centre of Public Health; National Institute of Public Health.

Aiming at triggering in-depth research of the problem of Premature Ovarian Insufficiency (POI) in Slovenia, we assessed the regional differences in POI incidence emphasising the relationship with social and physical environmental factors at the population level using a mapping approach. The differences in POI incidence between regions were tested by goodness-of-fit chi-square test, while Pearson correlation coefficient was used to assess the ecological relationship between POI incidence and selected environmental indicators. Significant indicators were mapped. Read More

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http://dx.doi.org/10.4081/gh.2020.800DOI Listing

Computational study on new natural compound inhibitors of indoleamine 2,3-dioxygenase 1.

Aging (Albany NY) 2020 06 22;12. Epub 2020 Jun 22.

Department of Neurosurgery, The First Hospital of Jilin University, Changchun, China.

Indoleamine 2,3-Dioxygenase (IDO), is a speed limiting enzyme that catalyzes the decomposition and metabolism of Tryptophan along Tryptophan-IDO-Kynurenine pathway [1]. Tryptophan is a necessary amino acid for activating cell growth and metabolism. Additionally, the insufficiency of Tryptophan can lead to immune system dysfunction. Read More

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http://dx.doi.org/10.18632/aging.103113DOI Listing

Dysregulated cytokine profile associated with biochemical premature ovarian insufficiency.

Am J Reprod Immunol 2020 Jun 21:e13292. Epub 2020 Jun 21.

Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan, China.

Problem: Premature ovarian insufficiency (POI) imposes great challenge on female reproduction. Whether immune disturbance in ovarian environment was implicated in POI remains unclear. We aimed to characterize the cytokine profile in follicular fluid (FF) and paired serum in patients with biochemical POI (bPOI). Read More

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http://dx.doi.org/10.1111/aji.13292DOI Listing

Women with premature ovarian failure using hormone therapy do not experience increased levels of depression, anxiety and stress compared to controls.

J Affect Disord 2020 Aug 20;273:562-566. Epub 2020 May 20.

Department of Gynecology and Obstetrics, School of Medical Sciences, University of Campinas, (UNICAMP), Av. Alexander Fleming, 101, Cidade Universitária, Campinas 13083-881, SP, Brazil. Electronic address:

Objective: To evaluate anxiety, depression and stress of POI women using hormone therapy.

Methods: A quantitative cross-sectional study included 61 women diagnosed with POI receiving HT, and 61 women with preserved ovarian function, matched 1:1 for age (control group). Instruments used to evaluate depression, anxiety and stress were Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI) and Lipp's Stress Symptom Inventory (LSSI). Read More

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http://dx.doi.org/10.1016/j.jad.2020.05.105DOI Listing

FMRP ribonucleoprotein complexes and RNA homeostasis.

Adv Genet 2020 6;105:95-136. Epub 2020 Feb 6.

Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil. Electronic address:

The Fragile Mental Retardation 1 gene (FMR1), at Xq27.3, encodes the fragile mental retardation protein (FMRP), and displays in its 5'-untranslated region a series of polymorphic CGG triplet repeats that may undergo dynamic mutation. Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability among men, and is most frequently due to FMR1 full mutation and consequent transcription repression. Read More

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http://dx.doi.org/10.1016/bs.adgen.2020.01.001DOI Listing
February 2020

Treatment with Gonadotropin Releasing Hormone Agonists in Systemic Lupus Erythematosus Patients Receiving Cyclophosphamide: A Long-term Follow-up Study.

Isr Med Assoc J 2020 Jun;22(6):343-347

Lupus Clinic, Department of Clinical, Internal, Anesthetic and Cardiovascular Science-Rheumatology Unit, Sapienza University of Rome, Rome, Italy.

Background: Cyclophosphamide treatment has been associated with ovarian function impairment. Co-treatment with gonadotropin-releasing hormone-analogue (GnRH-a) seems to be able to prevent this complication. However, even though data are available on neoplastic patients, limited data have been published on systemic lupus erythematosus (SLE) women cohorts. Read More

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Attitude and knowledge for menopause management among health professionals in mainland China.

Authors:
L Lin P Feng Q Yu

Climacteric 2020 Jun 16:1-8. Epub 2020 Jun 16.

Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

This study aims to understand the attitude of health-care professionals (HPs) in mainland China toward menopause management (MM) as well as the knowledge they have received regarding MM during training. An anonymous survey recruited 3709 medical workers nationwide (including physicians, orthopedists, obstetricians and gynecologists, and general practitioners) through online surveys and on-site interviews at professional meetings. Of the 3709 questionnaires completed, 3426 questionnaires met the inclusion criteria. Read More

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http://dx.doi.org/10.1080/13697137.2020.1775809DOI Listing

Is AMP-Activated Protein Kinase associated to the metabolic changes in Primary Ovarian Insufficiency?

Antioxid Redox Signal 2020 Jun 16. Epub 2020 Jun 16.

Departamento de Psicología Experimental, Facultad de Psicología, Universidad de Sevilla, Seville Spain, Sevilla, Spain;

Primary Ovarian Insufficiency (POI) is a critical fertility defect characterized by anticipated impairment of the follicular reserve which pathophysiological mechanisms have not yet been identified. We have investigated the possible relationship between AMPK and the pathophysiology of POI. We studied thirty-five POI patients with altered levels of FSH and estradiol and increased percentage of overweight compared with twenty healthy women. Read More

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http://dx.doi.org/10.1089/ars.2020.8144DOI Listing

Fragile X Premutation Associated Conditions (FXPAC).

Front Pediatr 2020 27;8:266. Epub 2020 May 27.

Interessengemeinschaft Fragiles-X e.V, Rostock, Germany.

The European Fragile X Network (EFXN) proposes that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal term covering any condition linked to the Fragile X premutation. To date, there has not been an umbrella term assigned to issues associated with the FMR1 premutation, though several defined conditions which affect some premutation carriers, namely Fragile X-associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-associated Tremor/Ataxia Syndrome (FXTAS), are now commonly accepted. An overarching term covering all FX premutation conditions will help doctors in determining how the premutation might be affecting their patient; and encourage researchers to explore the interrelationships of the various conditions affecting premutation carriers. Read More

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http://dx.doi.org/10.3389/fped.2020.00266DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7267017PMC

Being born preterm or with low weight implies a risk of infertility and premature loss of ovarian function; a national register study.

Ups J Med Sci 2020 Jun 12:1-5. Epub 2020 Jun 12.

Faculty of Medicine and Health Sciences, Division of Obstetrics and Gynaecology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.

Being born with non-optimal birth characteristics has several long-term consequences on health in general but also for the individual's reproductive pattern. In premature ovarian insufficiency (POI) the follicles are depleted or dysfunctional. This results in menopause before the age of 40, and for most of the affected women, it causes infertility. Read More

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http://dx.doi.org/10.1080/03009734.2020.1770380DOI Listing

Reactivating Ovarian Function through Autologous Platelet-Rich Plasma Intraovarian Infusion: Pilot Data on Premature Ovarian Insufficiency, Perimenopausal, Menopausal, and Poor Responder Women.

J Clin Med 2020 Jun 10;9(6). Epub 2020 Jun 10.

Centre for Human Reproduction, Genesis Athens Clinic, 14-16, Papanikoli, 15232 Athens, Greece.

Intraovarian platelet-rich plasma (PRP) infusion was recently introduced in the context of addressing ovarian insufficiency. Reporting on its effectiveness prior to adopting in clinical routine practice is imperative. This study aims to provide pilot data regarding PRP application for ovarian rejuvenation. Read More

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http://dx.doi.org/10.3390/jcm9061809DOI Listing

MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage.

Nat Commun 2020 Jun 11;11(1):2948. Epub 2020 Jun 11.

Department of Genetics and Development, Herbert Irving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York, NY, USA.

Homologous recombination (HR) mediates the error-free repair of DNA double-strand breaks to maintain genomic stability. Here we characterize C17orf53/MCM8IP, an OB-fold containing protein that binds ssDNA, as a DNA repair factor involved in HR. MCM8IP-deficient cells exhibit HR defects, especially in long-tract gene conversion, occurring downstream of RAD51 loading, consistent with a role for MCM8IP in HR-dependent DNA synthesis. Read More

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http://dx.doi.org/10.1038/s41467-020-16718-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7290032PMC

Estrogen and bones after menopause: a reappraisal of data and future perspectives.

Hormones (Athens) 2020 Jun 9. Epub 2020 Jun 9.

2nd Department of Obstetrics and Gynecology, Medical School, National and Kapodistrian University of Athens, Athens, Greece.

Menopausal hormone therapy (MHT) is effective in preventing menopause-related bone loss and decreasing vertebral, non-vertebral and hip fracture risk. MHT contains estrogens that exert both antiosteoclastic and osteoanabolic effects. These effects are dose-dependent, as even ultra-low doses preserve or increase bone mineral density. Read More

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http://dx.doi.org/10.1007/s42000-020-00218-6DOI Listing

Adolescents and Bone Health.

Clin Obstet Gynecol 2020 Jun 8. Epub 2020 Jun 8.

Division of Endocrinology.

Adolescence is a critical time for the acquisition of peak bone mass. There are modifiable factors that may influence bone health in an adolescent. For those at risk for bone fragility, initial management includes optimization of calcium and vitamin D, weight-bearing exercise, and maintenance of a normal body weight. Read More

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http://dx.doi.org/10.1097/GRF.0000000000000548DOI Listing

Ovarian tissue cryopreservation and transplantation prevents iatrogenic premature ovarian insufficiency: first 10 cases in China.

Climacteric 2020 Jun 8:1-7. Epub 2020 Jun 8.

Department of Gynecological Endocrinology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.

The aim of this study was to report on the first 10 cases of ovarian tissue cryopreservation (OTC) and retransplantation (OTCT) in China. A retrospective descriptive study was performed of 10 Chinese women with different diseases undergoing OTC/OTCT in the first specialized center in China. Patients' ovarian function and fertility were followed up. Read More

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http://dx.doi.org/10.1080/13697137.2020.1767569DOI Listing

Effects of intraovarian injection of autologous platelet rich plasma on ovarian reserve and IVF outcome parameters in women with primary ovarian insufficiency.

Aging (Albany NY) 2020 Jun 5;12(11):10211-10222. Epub 2020 Jun 5.

IVI RMA New Jersey, Basking Ridge, NJ 07920, USA.

We aimed to determine whether intraovarian injection of autologous platelet rich plasma (PRP) improves response to ovarian stimulation and in vitro fertilization (IVF) outcome in women with primary ovarian insufficiency (POI). Women (N=311; age 24-40) diagnosed with POI based on ESHRE criteria underwent intraovarian PRP injection. Markers of ovarian reserve, and IVF outcome parameters were followed. Read More

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http://dx.doi.org/10.18632/aging.103403DOI Listing
June 2020
6.432 Impact Factor

Exosomal miRNA-320a Is Released from hAMSCs and Regulates SIRT4 to Prevent Reactive Oxygen Species Generation in POI.

Mol Ther Nucleic Acids 2020 May 19;21:37-50. Epub 2020 May 19.

Center of Reproduction and Genetics, Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, 215002, China; State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing 210029, China. Electronic address:

Human amniotic mesenchymal stem cells (hAMSCs) were previously shown to effectively rescue ovarian function in a premature ovarian insufficiency (POI) mouse model. The therapeutic mechanism of hAMSC-derived exosomes (hAMSC-Exos) is not fully understood. In this study, the therapeutic mechanism involved in exosomal microRNA-320a (miR-320a) and Sirtuin 4 (SIRT4) was investigated in POI mouse ovaries oocytes and human granulosa cells (hGCs) by fluorescence-activated cell sorting (FACS), hematoxylin and eosin (H&E) staining, enzyme-linked immunosorbent assay (ELISA), and immunofluorescence experiments. Read More

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http://dx.doi.org/10.1016/j.omtn.2020.05.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272510PMC

Long non-coding RNAs in ovarian granulosa cells.

J Ovarian Res 2020 Jun 5;13(1):63. Epub 2020 Jun 5.

Department of Gynecology, The First Affiliated Hospital of Shenzhen University, Health Science Center, Shenzhen Second People's Hospital, 3002 Sungang West Road, Futian District, Shenzhen, 518000, Guangdong province, China.

Granulosa cells (GCs) are somatic cells surrounding oocytes within follicles and are essential for folliculogenesis. Pathological changes in GCs are found in several ovarian disorders. Recent reports have indicated that long non-coding RNAs (lncRNAs), which modulate gene expression via multiple mechanisms, are key regulators of the normal development of GCs, follicles, and ovaries. Read More

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http://dx.doi.org/10.1186/s13048-020-00663-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275442PMC

Fragile X associated neuropsychiatric disorders in a male without FXTAS.

Intractable Rare Dis Res 2020 May;9(2):113-118

Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis Health, Sacramento, CA, USA.

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder. In most cases, it is due to an expansion of the CGG triplet to more than 200 repeats within the promoter region of the gene. In the premutation (PM) the trinucleotide is expanded to 55-200 repeats. Read More

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http://dx.doi.org/10.5582/irdr.2020.01028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263992PMC

Novel aspects on gonadotoxicity and fertility preservation in lymphoproliferative neoplasms.

Crit Rev Oncol Hematol 2020 Jul 15;151:102981. Epub 2020 May 15.

Haematology Unit, National Cancer Center, IRCCS Istituto Tumori "Giovanni Paolo II", viale O. Flacco 65, Bari, Italy. Electronic address:

The topic of fertility preservation in patients with a lymphoproliferative disease offers new aspects of debate, due to the introduction of novel chemotherapeutic regimens and small molecules in the clinical landscape. Cancer related infertility is mostly dependent on gonadotoxic treatments and fertile female patients are today addressed to the oocyte cryopreservation or to ovarian cortex fragment cryopreservation. These methods present advantages and disadvantages, which will be discussed in the present review, together with the options for male patients. Read More

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http://dx.doi.org/10.1016/j.critrevonc.2020.102981DOI Listing

Homozygous hypomorphic variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait.

J Med Genet 2020 Jun 1. Epub 2020 Jun 1.

Faculte de Medecine, Universite Paris Saclay, Hopital Bicêtre APHP, Le Kremlin-Bicetre, France

Background: Primary ovarian insufficiency (POI) affects 1% of women under 40 years and is a public health problem. The genetic causes of POI are highly heterogeneous with isolated or syndromic forms. Recently, variants in genes involved in DNA repair have been shown to cause POI. Read More

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http://dx.doi.org/10.1136/jmedgenet-2019-106672DOI Listing

Perfluoroalkyl and polyfluoroalkyl substances (PFAS) and their effects on the ovary.

Hum Reprod Update 2020 May 29. Epub 2020 May 29.

Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI 48109, USA.

Background: Perfluoroalkyl and polyfluoroalkyl substances (PFAS) are found widespread in drinking water, foods, food packaging materials and other consumer products. Several PFAS have been identified as endocrine-disrupting chemicals based on their ability to interfere with normal reproductive function and hormonal signalling. Experimental models and epidemiologic studies suggest that PFAS exposures target the ovary and represent major risks for women's health. Read More

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http://dx.doi.org/10.1093/humupd/dmaa018DOI Listing

Fertility and pregnancy in women with primary adrenal insufficiency.

Endocrine 2020 May 29. Epub 2020 May 29.

Section of Internal Medicine and Endocrinological and Metabolic Sciences, Department of Medicine, University of Perugia, 06129, Perugia, Italy.

Primary adrenal insufficiency (PAI) occurs in ~1/5000-1/7000 individuals and is in most cases caused by autoimmune Addison's disease (AAD). Around 10-20% of women with AAD develop premature ovarian insufficiency (POI) before the age of 40 years. 21-Hydroxylase autoantibodies (21OHAb) are the best single immune marker to classify AAD among PAI patients and autoimmune POI in hypergonadotropic hypogonadic women. Read More

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http://dx.doi.org/10.1007/s12020-020-02343-zDOI Listing

The protective effects of pretreatment with resveratrol in cyclophosphamide-induced rat ovarian granulosa cell injury: In vitro study.

Reprod Toxicol 2020 Aug 21;95:66-74. Epub 2020 May 21.

Department of Medical Laboratory, Hebei Chest Hospital, No. 372, Shengli North Street, Shijiazhuang, Hebei 050010, China.

Cyclophosphamide (Cy), a chemotherapeutic agent, is widely used to treat tumoursand is also associated with premature ovarian insufficiency. 4-Hydroperoxycyclophosphamide (4-HC), an active metabolite of Cy, was used for in vitro experiments. Granulosa cells (GCs) are crucial for maintaining follicle development and are also used in reproductive toxicity research in vitro. Read More

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http://dx.doi.org/10.1016/j.reprotox.2020.05.005DOI Listing
August 2020
3.227 Impact Factor

Successful live birth in a woman with resistant ovary syndrome treated with letrozole and HMG: A case report.

Medicine (Baltimore) 2020 May;99(20):e20199

Reproductive and Genetic Center of Integrated Traditional and Western Medicine, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Shandong Province.

Introduction: Resistance ovary syndrome (ROS) is a disease characterized by hypergonadotropic amenorrhea but with normal ovarian reserve. Currently, its pathogenesis is still unclear and the treatment methods are complex. Nevertheless, there are evident negative effects of this disease on females' physical and mental health such as gonadal dysplasia, infertility, anxiety, and depression. Read More

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http://dx.doi.org/10.1097/MD.0000000000020199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7253532PMC

Feasibility and efficacy of gonadotropin-releasing hormone agonists for the prevention of chemotherapy-induced ovarian insufficiency in patients with malignant ovarian germ cell tumours (KGOG 3048R).

Eur J Cancer 2020 Jul 19;133:56-65. Epub 2020 May 19.

Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, South Korea.

Background: This study assessed the effects of gonadotropin-releasing hormone agonists (GnRHa) on the prevention of chemotherapy-induced ovarian insufficiency among young patients with malignant ovarian germ cell tumour (MOGCT) receiving chemotherapy.

Methods: This multicentre, retrospective study was conducted at 15 sites affiliated with the Korean Gynecologic Oncology Group and enrolled 354 patients between January 1995 and September 2018. Among them, 227 patients were included in this study and divided into two groups according to the use of GnRHa during chemotherapy (GnRHa versus no GnRHa groups). Read More

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http://dx.doi.org/10.1016/j.ejca.2020.03.030DOI Listing

Exosomal miRNA-17-5p derived from human umbilical cord mesenchymal stem cells improves ovarian function in premature ovarian insufficiency by regulating SIRT7.

Stem Cells 2020 May 22. Epub 2020 May 22.

Center of Reproduction and Genetics, Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Suzhou, People's Republic of China.

Premature ovarian insufficiency (POI) is clinically irreversible in women aged over 40 years. Although numerous studies have demonstrated satisfactory outcomes of mesenchymal stem cell therapy, the underlying therapeutic mechanism remains unclear. Exosomes were collected from the culture medium of human umbilical cord mesenchymal stem cells (hUMSCs) and assessed by electron microscopy and Western blot (WB) analysis. Read More

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http://dx.doi.org/10.1002/stem.3204DOI Listing

Impact of Dietary Selenium on Modulation of Expression of Several Non-Selenoprotein Genes Related to Key Ovarian Functions, Female Fertility, and Proteostasis: a Transcriptome-Based Analysis of the Aging Mice Ovaries.

Biol Trace Elem Res 2020 May 19. Epub 2020 May 19.

Beijing Key Laboratory for Animal Genetic Improvement, College of Animal Science and Technology, China Agricultural University, Beijing, 100193, China.

Female reproductive (ovarian) aging is characterized by a marked decline in quantity and quality of follicles and oocytes, as well as alterations in the surrounding ovarian stroma. In our previous report, we have shown that dietary selenium (Se) insufficiency and supplementation differentially impacted the reproductive efficiency in aging mice; however, the precise understanding of such modulation is still incomplete. In the present study, we sought to determine the impact of low (mildly low level) and moderately high (medium level) Se diets on expression profile of non-selenoprotein genes in the ovaries of aging mice. Read More

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http://dx.doi.org/10.1007/s12011-020-02192-xDOI Listing

Diminished Ovarian Reserve Chemotherapy-Induced Mouse Model: A Tool for the Preclinical Assessment of New Therapies for Ovarian Damage.

Reprod Sci 2020 Aug;27(8):1609-1619

IVI Foundation, Av. Fernando Abril Martorell, 106-TorreA-Plantal, 46026, Valencia, Spain.

Diminished ovarian reserve (DOR) and primary ovarian insufficiency (POI) are primary factors leading to infertility. However, there is a lack of appropriate animal models of DOR usable for assessing new therapeutic strategies. In this study, we aimed to evaluate whether chemotherapy treatment in mice could reproduce features similar of that observed in women with DOR. Read More

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http://dx.doi.org/10.1007/s43032-020-00191-wDOI Listing

The role of oxidative stress on subclinical atherosclerosis in premature ovarian insufficiency and relationship with carotid intima-media thickness.

Gynecol Endocrinol 2020 May 20:1-6. Epub 2020 May 20.

Ministry of Health Ankara City Hospital, Ankara, Turkey.

We aimed to investigate the relationship between oxidative stress (OS) and subclinical atherosclerosis in patients with premature ovarian insufficiency (POI), by analyzing the dynamic thiol/disulfide homeostasis (TDH) parameters as an OS marker and carotid intima-media thickness (CIMT).: A total of 69 women, 34 with POI and 35 healthy controls were included in this prospective cross-sectional study. TDH parameters (plasma native thiol, total thiol, disulfide, disulfide/native thiol, native thiol/total thiol, and disulfide/total thiol ratios) and CIMT were measured and compared between the two groups. Read More

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http://dx.doi.org/10.1080/09513590.2020.1766439DOI Listing
May 2020
1.136 Impact Factor

Identification of novel, clinically correlated autoantigens in the monogenic autoimmune syndrome APS1 by proteome-wide PhIP-Seq.

Elife 2020 May 15;9. Epub 2020 May 15.

Diabetes Center, University of California, San Francisco, San Francisco, United States.

The identification of autoantigens remains a critical challenge for understanding and treating autoimmune diseases. Autoimmune polyendocrine syndrome type 1 (APS1), a rare monogenic form of autoimmunity, presents as widespread autoimmunity with T and B cell responses to multiple organs. Importantly, autoantibody discovery in APS1 can illuminate fundamental disease pathogenesis, and many of the antigens found in APS1 extend to more common autoimmune diseases. Read More

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http://dx.doi.org/10.7554/eLife.55053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7228772PMC

Hormone Therapy in Menopause.

Authors:
John Paciuc

Adv Exp Med Biol 2020 ;1242:89-120

Lenox Hill Hospital, Mount Sinai Hospital, New York, NY, USA.

As longevity expands, women are spending a third of their existence in menopause and beyond. The vast majority suffer from symptoms that negatively impact their quality of life. Systemic vasomotor symptoms (VMS) are the classic cluster affecting 80% of peri- and post-menopausal women. Read More

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http://dx.doi.org/10.1007/978-3-030-38474-6_6DOI Listing
January 2020

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.

Ann Neurol 2020 May 13. Epub 2020 May 13.

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.

Objective: A hitherto undescribed phenotype of early onset muscular dystrophy associated with sensorineural hearing loss and primary ovarian insufficiency was initially identified in 2 siblings and in subsequent patients with a similar constellation of findings. The goal of this study was to understand the genetic and molecular etiology of this condition.

Methods: We applied whole exome sequencing (WES) superimposed on shared haplotype regions to identify the initial biallelic variants in GGPS1 followed by GGPS1 Sanger sequencing or WES in 5 additional families with the same phenotype. Read More

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http://dx.doi.org/10.1002/ana.25772DOI Listing

Familial primary ovarian insufficiency associated with a SYCE1 point mutation: defective meiosis elucidated in humanized mice.

Mol Hum Reprod 2020 May 13. Epub 2020 May 13.

Department of Molecular Biology, Instituto de Investigaciones Biológicas Clemente Estable (IIBCE), Montevideo, Uruguay.

More than 50% of cases of primary ovarian insufficiency (POI) and nonobstructive azoospermia in humans are classified as idiopathic infertility. Meiotic defects may relate to at least some of these cases. Mutations in genes coding for synaptonemal complex (SC) components have been identified in humans, and hypothesized to be causative for the observed infertile phenotype. Read More

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http://dx.doi.org/10.1093/molehr/gaaa032DOI Listing

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).

Hum Genet 2020 May 12. Epub 2020 May 12.

Reproductive Development Group, Murdoch Children's Research Institute, Melbourne, Australia.

Perrault syndrome is a rare heterogeneous condition characterised by sensorineural hearing loss and premature ovarian insufficiency. Additional neuromuscular pathology is observed in some patients. There are six genes in which variants are known to cause Perrault syndrome; however, these explain only a minority of cases. Read More

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http://dx.doi.org/10.1007/s00439-020-02176-wDOI Listing

Ability of human umbilical cord mesenchymal stem cells to repair chemotherapy-induced premature ovarian failure.

World J Stem Cells 2020 Apr;12(4):277-287

Department of Obstetrics and Gynecology, General Hospital of Northern Theater Command (Heping Campus), Shenyang 110000, Liaoning Province, China.

Background: Premature ovarian insufficiency (POI) and premature ovarian failure (POF) have become one of the major problems threatening women of childbearing age. Studies have shown that stem cells transplanted from bone marrow, umbilical cord, peripheral blood and amniotic fluid can migrate and proliferate to the ovary, promote ovarian function repair, increase the number of follicles and granulosa cells at all levels of ovary, improve endocrine function, and can differentiate into oocytes in specific ovarian environment to restore fertility to some extent.

Aim: To study the ability of human umbilical cord mesenchymal stem cells (hUCMSCs) to repair ovarian injury after chemotherapy. Read More

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http://dx.doi.org/10.4252/wjsc.v12.i4.277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202924PMC