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Female Infertility Causes

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1. Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility. (PubMed)

Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility. Fertilization is a fundamental process of development and is a prerequisite for successful human reproduction. In mice, although several receptor proteins have been shown to play important roles in the process of fertilization, only three genes have been shown to cause fertilization failure and infertility when deleted in vivo. In clinical practice, some infertility case subjects suffer from recurrent failure (...) ' oocytes rescued the fertilization failure phenotype and led to the formation of blastocysts in vitro. This work presents a novel gene responsible for human fertilization failure and has implications for future therapeutic treatments for infertility cases.Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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2018 American Journal of Human Genetics

2. Interference with the C-terminal structure of MARF1 causes defective oocyte meiotic division and female infertility in mice (PubMed)

Interference with the C-terminal structure of MARF1 causes defective oocyte meiotic division and female infertility in mice Meiosis-arrest female 1 (MARF1) is a recently identified key oogenic regulator essential for the maintenance of female fertility and genome integrity in mice. However, the detailed functions and the underlying mechanisms of MARF1 remain elusive. Here, in an attempt to create a mouse model expressing fluorescent protein-tagged MARF1 to facilitate further exploration (...) of the roles of MARF1 in oocytes, we produced a Marf1-eGFP knockin (KI) mouse line in which the C-terminal structure and function of MARF1 were interfered by its fusing eGFP peptide. Using these Marf1-eGFP-KI mice, we revealed, unexpectedly, the functions of MARF1 in the control of oocyte meiotic division. We found that the Marf1-eGFP-KI females ovulated mature oocytes with severe meiotic and developmental defects, and thus were infertile. Moreover, meiotic reinitiation was delayed while meiotic completion

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2018 Journal of biomedical research

3. Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest. (PubMed)

Novel mutations in PATL2 cause female infertility with oocyte germinal vesicle arrest. Do PATL2 mutations account for female infertility with oocyte germinal vesicle (GV) arrest?Four of nine independent families with oocyte GV arrest were identified with biallelic PATL2 mutations, suggesting that these mutations may be responsible for oocyte maturation arrest in primary infertile women.Recently, two independent studies have demonstrated that infertility in some women with oocyte maturation (...) arrest at the GV stage was caused by biallelic mutations in PATL2. PATL2 encodes protein PAT1 homolog 2, an RNA-binding protein that may act as a translational repressor.In this study, nine unrelated primary infertile females presenting with oocyte GV arrest were recruited during the treatment of early rescue ICSI or ICSI from January 2013 to December 2016.Genomic DNA was isolated from blood samples obtained from all nine affected individuals and all of their available family members. All the coding

2018 Human Reproduction

4. Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2. (PubMed)

Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2. Infertility is a relatively common disorder of the reproductive system and remains unexplained in many cases. In vitro fertilization techniques have uncovered previously unrecognized infertility phenotypes, including oocyte maturation arrest, the molecular etiology of which remains largely unknown. We report two families affected by female-limited infertility caused by oocyte maturation failure (...) that are necessary for female meiosis.Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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2017 American Journal of Human Genetics

5. Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. (PubMed)

Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest. Oocyte maturation arrest results in female infertility, but the genetic determinants of human oocyte maturation arrest remain largely unknown. Previously, we identified TUBB8 mutations responsible for human oocyte maturation arrest, indicating the important role of genetic factors in the disorder. However, TUBB8 mutations account for only around 30% of individuals with oocyte maturation arrest; thus (...) confirmed the genetic contribution of PATL2 to human oocyte maturation arrest. By western blot in HeLa cells, identification of splicing events in affected individuals' granulosa cells, and immunostaining in affected individuals' oocytes, we provide evidence that mutations in PATL2 lead to decreased amounts of protein. These findings suggest an important role for PATL2 mutations in oocyte maturation arrest and expand our understanding of the genetic basis of female infertility.Copyright © 2017 American

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2017 American Journal of Human Genetics

6. Novel Inactivating Mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model. (PubMed)

Novel Inactivating Mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model. Loss-of-function DCAF17 variants cause hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness with variable clinical presentation. DCAF17 pathogenic variants have been largely reported in the Middle Eastern populations, but the incidence in American families is rare and animal models are lacking. Exome sequencing in 5 (...) female subfertility and male infertility. Our results identify 2 novel variants, and show that Dcaf17 plays a significant role in mammalian gonadal development and infertility.© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

2017 Clinical Genetics

7. A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility. (PubMed)

A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility. Empty follicle syndrome (EFS) is defined as the failure to aspirate oocytes from mature ovarian follicles during in vitro fertilization. Except for some cases caused by pharmacological or iatrogenic problems, the etiology of EFS remains enigmatic. In the present study, we describe a large family with a dominant inheritance pattern of female infertility characterized by recurrent EFS. Genome-wide linkage (...) a genetic basis for EFS and oocyte degeneration and, moreover, might pave the way for genetic diagnosis of infertile females with this phenotype.Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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2017 American Journal of Human Genetics

8. Oocyte-specific deletion of furin leads to female infertility by causing early secondary follicle arrest in mice (PubMed)

Oocyte-specific deletion of furin leads to female infertility by causing early secondary follicle arrest in mice The process of follicular development involves communications between oocyte and surrounding granulosa cells. FURIN is a member of the family of proprotein convertases that is involved in the activation of a large number of zymogens and proproteins by cleavage at its recognition motif. To investigate the functions of FURIN in female fertility, furinflox/flox (furfl/fl) mice were (...) follicles, thus anovulation and infertility. We also found that the developmental arrest of early secondary follicles might be rooted in the loss of the mature form of ADAMTS1 (85-kDa prodomain truncated) and compromised proliferation of granulosa cells in mutant mice. Taken together, our data highlight the importance of FURIN in follicle development beyond the early secondary follicle stage and indicate that compromised FURIN function leads to follicular dysplasia and female infertility in mice.

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2017 Cell death & disease

9. Graft-versus-host disease targets ovary and causes female infertility in mice. (PubMed)

Graft-versus-host disease targets ovary and causes female infertility in mice. Infertility associated with ovarian failure is a serious late complication for female survivors of allogeneic hematopoietic stem cell transplantation (SCT). Although pretransplant conditioning regimen has been appreciated as a cause of ovarian failure, increased application of reduced-intensity conditioning allowed us to revisit other factors possibly affecting ovarian function after allogeneic SCT. We have addressed (...) whether donor T-cell-mediated graft-versus-host disease (GVHD) could be causally related to female infertility in mice. Histological evaluation of the ovaries after SCT demonstrated donor T-cell infiltration in close proximity to apoptotic granulosa cells in the ovarian follicles, resulting in impaired follicular hormone production and maturation of ovarian follicles. Mating experiments showed that female recipients of allogeneic SCT deliver significantly fewer newborns than recipients of syngeneic

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2016 Blood

10. A hormone-related female anti-aphrodisiac signals temporary infertility and causes sexual abstinence to synchronize parental care (PubMed)

A hormone-related female anti-aphrodisiac signals temporary infertility and causes sexual abstinence to synchronize parental care The high energetic demand of parental care requires parents to direct their resources towards the support of existing offspring rather than investing into the production of additional young. However, how such a resource flow is channelled appropriately is poorly understood. In this study, we provide the first comprehensive analysis of the physiological mechanisms (...) coordinating parental and mating effort in an insect exhibiting biparental care. We show a hormone-mediated infertility in female burying beetles during the time the current offspring is needy and report that this temporary infertility is communicated via a pheromone to the male partner, where it inhibits copulation. A shared pathway of hormone and pheromone system ensures the reliability of the anti-aphrodisiac. Female infertility and male sexual abstinence provide for the concerted investment of parental

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2016 Nature communications

11. Female Infertility Causes

Female Infertility Causes Female Infertility Causes Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Female Infertility Causes Female (...) Infertility Causes Aka: Female Infertility Causes , Infertility Causes From Related Chapters II. Causes: Pelvic Factors (Structural etiology) Infection Pelvic Surgical History Pelvic adhesions Dilatation and Curettage Ruptured l surgery Leiomyoma ( s) and Pregnancy History Prior use in-utero Habitual abortion abnormalities Cyclic abdominal or III. Causes: Ovulatory Factors (Hormonal etiology: 40%) Menstrual history or defect Premenstrual molimina (Premenstrual tension) Endocrine conditions disease Adrenal

2018 FP Notebook

12. Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest. (PubMed)

Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest. Early embryonic arrest is one of the major causes of female infertility. However, because of difficulties in phenotypic evaluation, genetic determinants of human early embryonic arrest are largely unknown. With the development of assisted reproductive technology, the phenotype of early human embryonic arrest can now be carefully evaluated. Here, we describe a consanguineous family with a recessive inheritance (...) pattern of female infertility characterized by recurrent early embryonic arrest in cycles of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). We have identified a homozygous PADI6 nonsense mutation (c.1141C>T [p.Gln381(∗)]) that is responsible for the phenotype. Mutational analysis of PADI6 in a cohort of 36 individuals whose embryos displayed developmental arrest identified two affected individuals with compound-heterozygous mutations (c.2009_2010del [p.Glu670Glyfs(∗)48

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2016 American Journal of Human Genetics

13. Infertility-related distress and female sexual function during assisted reproduction. (PubMed)

Infertility-related distress and female sexual function during assisted reproduction. Is infertility-related distress a risk factor for impaired female sexual function in women undergoing assisted reproduction?Infertility-related distress, and especially social, sexual, and relationship concerns, is associated with female sexual dysfunction.Women with infertility are more likely to present sexual dysfunction relative to those without infertility. Moreover, assisted reproduction is associated (...) with increased risk for female sexual problems. To date, this higher proportion of sexual impairment in infertile women has been simplistically linked to the stress associated with the condition and investigated risk factors included mainly demographic and clinical variables. Quantitative studies aimed at identifying risk factors for sexual dysfunction that also included the evaluation of infertility-related distress are conversely lacking.This observational study was conducted at the Infertility Unit

2019 Human Reproduction

14. Diagnostic evaluation of the infertile female: a committee opinion

and physiologic causes of infertility. Infertility can involve both female and male partners. Fertility declines as a woman approaches age 40. Ovulatory status, structure, and patency of the female reproductive tract, and male semen parameters all affect fertility. While measures of ovarian reserve donot establish a diag- nosis of diminished ovarian reserve, they may predict ovarian response to stimulation with exogenous gonadotropins. HSGhasbeenthestandardtestfortubalpatency.Laparos- copy is useful (...) Diagnostic evaluation of the infertile female: a committee opinion Diagnostic evaluation of the infertile female: a committee opinion Practice Committee of the American Society for Reproductive Medicine American Society for Reproductive Medicine, Birmingham, Alabama Diagnosticevaluationforinfertilityinwomenshouldbeconductedinasystematic,expeditious,andcost-effectivemannertoidentifyall

2015 Society for Assisted Reproductive Technology

15. Knowledge and perceptions of infertility in female cancer survivors and their parents (PubMed)

Knowledge and perceptions of infertility in female cancer survivors and their parents The purpose of this study was to assess knowledge and perceptions of infertility, reproductive concerns, quality of life, and emotional burden of fertility concerns in adolescent female cancer survivors and their parents.A cross-sectional design was used to investigate reproductive knowledge and concerns among female childhood cancer survivors and their parents. The instruments administered at a single (...) , they still demonstrated a desire for more information on reproduction after cancer therapy. While PedsQL scores fell within a normal range, survivors report infertility would cause negative emotions.This information can be used refine educational programs within survivorship clinics to improve knowledge of post-treatment reproductive health.

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2018 Supportive Care in Cancer

16. Comparison of CD9 & CD146 markers in endometrial stromal cells of fertile & infertile females (PubMed)

with real-time data.This study showed that endometrial stromal cells from infertile females had lower expression of adhesion molecules, CD9 and CD146. Our findings suggest that CD9 and CD146 may have a role in infertility. Infertile female's endometrial stromal cells have decreased expression of CD9 and CD146 which can be the cause of infertility related to implantation failure. (...) Comparison of CD9 & CD146 markers in endometrial stromal cells of fertile & infertile females CD9 and CD146 are important adhesion molecules that play a role in the implantation of an embryo. This study was undertaken to correlate the expression of these markers in fertile and infertile women's endometrial stromal cells.Human endometrial stromal cell culture from endometrial biopsies of fertile (n=50) and infertile females (n=50) was performed and primary cell lines were established. Expression

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2018 The Indian journal of medical research

17. The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility. (PubMed)

The comprehensive mutational and phenotypic spectrum of TUBB8 in female infertility. Human oocyte maturation is a precondition for fertilization and ensuing embryonic development. Previously, we identified TUBB8 variants as a genetic determinant of human oocyte maturation arrest and showed that these variants cause variable and mixed phenotypes in oocyte maturation and early embryo development. We also estimated that rare inherited or de novo variants in the TUBB8 gene accounted for 30 (...) detailed mutational and phenotypic spectrum of TUBB8, further extend the spectrum of variants and dysfunctional oocyte and embryo phenotypes caused by TUBB8 variants, and confirm previous findings for a critical role of TUBB8 during oocyte maturation and early embryonic development. Thus, TUBB8 mutation screening might not only be a genetic diagnostic marker for patients with oocyte maturation arrest, but might also have clinical implications for evaluating the competence of patients' functional

2018 European Journal of Human Genetics

18. Female infertility, infertility-associated diagnoses, and comorbidities: a review (PubMed)

and metabolic disorders such as diabetes than the general population [16, 21-26].Female infertility and associated diagnoses have overall health implications. Beyond treatment of patients' immediate reproductive needs, healthcare professionals must be aware of the broader health impact of specific causes of infertility in order to provide accurate counseling regarding long-term risk. (...) Female infertility, infertility-associated diagnoses, and comorbidities: a review The purpose of the study is to evaluate existing literature for possible associations between female infertility, infertility-associated diagnoses, and the following areas of disease: psychiatric disorders, breast cancer, ovarian cancer, endometrial cancer, cardiovascular disease, and metabolic dysfunction.The design of the study is a literature review. The patients were women included in 26 selected studies due

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2016 Journal of assisted reproduction and genetics

19. Does Active Oral Sex Contribute to Female Infertility? (PubMed)

Does Active Oral Sex Contribute to Female Infertility? Based on recent, historical, and circumstantial evidence, we present a multifactorial hypothesis that has potential direct implications on the epidemiology and management of chlamydial infection and disease in humans. We propose that (1) like its veterinary relatives, the oculogenital pathogen Chlamydia trachomatis evolved as a commensal organism of the human gastrointestinal (GI) tract primarily transmissible via the fecal-oral route; (2 (...) ) in the modern era, C. trachomatis causes "opportunistic" infection at non-GI sites under conditions driven by improved sanitation/hygiene and reduced fecal-oral transmission; and (3) the rise in the practice of oral sex is contributing to the increased prevalence of C. trachomatis in the human GI tract. Infectious organisms produced in the GI tract and reaching the rectum may then chronically contaminate and infect the female urogenital tract, thereby potentially contributing to the most serious sequelae

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2017 Journal of Infectious Diseases

20. Female genital tuberculosis and infertility: serial cases report in Bandung, Indonesia and literature review (PubMed)

Female genital tuberculosis and infertility: serial cases report in Bandung, Indonesia and literature review Female genital tuberculosis (FGTB) is a Mycobacterium infection in the reproductive organs which often leads to infertility. FGTB is either asymptomatic or causes uncharacteristic clinical presentations, making an early diagnosis is challenging. Our aims were to evaluate the clinical presentations, the process to confirm the diagnosis and followed-up the patients who had undergone (...) laparoscopy at our center. FGTB has been reported from many countries, but has never been reported from Indonesia. Here we present case studies to document the presence of FGTB in Indonesia.There were three patients admitted to our center; two patients were admitted with irregular menstrual cycle as their chief complaint, while one patient came due to infertility. The results from laparoscopy were suggestive of FGTB; including the presence of caseating granulomas surrounded by epithelioid cells

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2017 BMC research notes

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