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JAMA Jul 2021In the US, approximately 12.7% of reproductive age women seek treatment for infertility each year. This review summarizes current evidence regarding diagnosis and... (Review)
Review
IMPORTANCE
In the US, approximately 12.7% of reproductive age women seek treatment for infertility each year. This review summarizes current evidence regarding diagnosis and treatment of infertility.
OBSERVATIONS
Infertility is defined as the failure to achieve pregnancy after 12 months of regular unprotected sexual intercourse. Approximately 85% of infertile couples have an identifiable cause. The most common causes of infertility are ovulatory dysfunction, male factor infertility, and tubal disease. The remaining 15% of infertile couples have "unexplained infertility." Lifestyle and environmental factors, such as smoking and obesity, can adversely affect fertility. Ovulatory disorders account for approximately 25% of infertility diagnoses; 70% of women with anovulation have polycystic ovary syndrome. Infertility can also be a marker of an underlying chronic disease associated with infertility. Clomiphene citrate, aromatase inhibitors such as letrozole, and gonadotropins are used to induce ovulation or for ovarian stimulation during in vitro fertilization (IVF) cycles. Adverse effects of gonadotropins include multiple pregnancy (up to 36% of cycles, depending on specific therapy) and ovarian hyperstimulation syndrome (1%-5% of cycles), consisting of ascites, electrolyte imbalance, and hypercoagulability. For individuals presenting with anovulation, ovulation induction with timed intercourse is often the appropriate initial treatment choice. For couples with unexplained infertility, endometriosis, or mild male factor infertility, an initial 3 to 4 cycles of ovarian stimulation may be pursued; IVF should be considered if these approaches do not result in pregnancy. Because female fecundity declines with age, this factor should guide decision-making. Immediate IVF may be considered as a first-line treatment strategy in women older than 38 to 40 years. IVF is also indicated in cases of severe male factor infertility or untreated bilateral tubal factor.
CONCLUSIONS AND RELEVANCE
Approximately 1 in 8 women aged 15 to 49 years receive infertility services. Although success rates vary by age and diagnosis, accurate diagnosis and effective therapy along with shared decision-making can facilitate achievement of fertility goals in many couples treated for infertility.
Topics: Congenital Abnormalities; Female; Fertility Agents, Female; Humans; Infertility, Female; Infertility, Male; Life Style; Male; Ovulation Induction; Reproductive Techniques, Assisted; Semen Analysis
PubMed: 34228062
DOI: 10.1001/jama.2021.4788 -
Acta Clinica Croatica Sep 2019This study aimed to investigate whether infertility and its treatment affect couple sexuality. A systematic literature review was performed, focusing on female and male... (Meta-Analysis)
Meta-Analysis
This study aimed to investigate whether infertility and its treatment affect couple sexuality. A systematic literature review was performed, focusing on female and male sexual dysfunctions due to infertility. The method was descriptive, using a meta-synthesis of scientific research published between 2012 and 2017 in the English language. The search for suitable studies was carried out with the research databases Medline, CINAHL, PubMed and ScienceDirect using the following keywords: infertility, sexual dysfunctions, couple. It can be concluded that infertility negatively affects the sexuality of an infertile couple, which is further proven by a high percentage of sexual dysfunctions (43%-90% among women and 48%-58% among men). Couples report less satisfaction with sexuality. Since lower satisfaction and dysfunctions are closely connected with infertility and its treatment, couples might benefit from sexual therapy and support during the process of infertility treatment. Further research should focus on the evaluation of different psychological interventions that would address sexuality in couples when diagnosed and treated for infertility.
Topics: Adult; Aged; Aged, 80 and over; Female; Humans; Infertility; Male; Middle Aged; Sexual Behavior; Sexual Dysfunction, Physiological; Sexual Dysfunctions, Psychological; Sexuality
PubMed: 31969764
DOI: 10.20471/acc.2019.58.03.15 -
Advances in Medical Sciences Mar 2020Infertility and subfertility affect a significant part of the population. Among various definitions of this pathology, the most common one is provided by the World... (Review)
Review
Infertility and subfertility affect a significant part of the population. Among various definitions of this pathology, the most common one is provided by the World Health Organisation; it says that infertility is 'a disease of the reproductive system defined by the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourses'. The global prevalence of infertility is about 50-70 million couples. Since the process of human reproduction involves a large number of factors, a broad spectrum of infertility tests might be applied. Some of the tests focus directly on the pregnancy, some are only partially effective, whereas others should not be recommended for infertile couples. The aim of this review is to present a critical evaluation of the infertility diagnostic process and to discuss the recommendations for its most effective treatment.
Topics: Female; Humans; Infertility, Female; Infertility, Male; Male; Pregnancy
PubMed: 31923772
DOI: 10.1016/j.advms.2019.12.008 -
Fertility and Sterility Jun 2019This issue's of Views and Reviews considers the origins of lifetime health established around the time of conception in some prevalent conditions related to infertility....
This issue's of Views and Reviews considers the origins of lifetime health established around the time of conception in some prevalent conditions related to infertility. Reviews will look at the effects of advanced paternal and maternal age, the influence of the severe sperm factor, and the impact of some endocrinopathies commonly seen in infertile couples, especially women, like polycystic ovary syndrome, under- and overweight, diabetes, and thyroid disorders. The aim of this Views and Reviews section is to summarize current evidence on the consequences of these conditions on postnatal health to encourage research in this field and the need to develop strategies and preventative measures to reduce or prevent unfavorable outcomes in future generations.
Topics: Adolescent; Child; Child Health; Child of Impaired Parents; Child, Preschool; Disease Susceptibility; Female; Fertility; Health Status; Humans; Infant; Infant, Newborn; Infertility, Female; Infertility, Male; Male; Maternal Age; Maternal Health; Paternal Age; Reproductive Techniques, Assisted; Risk Assessment; Risk Factors; Treatment Outcome
PubMed: 31155112
DOI: 10.1016/j.fertnstert.2019.04.043 -
PLoS Genetics Oct 2019Limited translational genomic research data have been reported on the application of exome sequencing and parallel gene testing for preconception carrier screening...
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Limited translational genomic research data have been reported on the application of exome sequencing and parallel gene testing for preconception carrier screening (PCS). Here, we present individual-level data from a large PCS program in which exome sequencing was routinely performed on either gamete donors (5,845) or infertile patients (8,280) undergoing in vitro fertilization (IVF) treatment without any known family history of inheritable genetic conditions. Individual-level data on pathogenic variants were used to define conditions for PCS based on criteria for severity, penetrance, inheritance pattern, and age of onset. Fetal risk was defined based on actual carrier frequency data accounting for the specific inheritance pattern (fetal disease risk, FDR). In addition, large-scale application of exome sequencing for PCS allowed a deep investigation of the incidence of medically actionable secondary findings in this population. Exome sequencing achieved remarkable clinical sensitivity for reproductive risk of highly penetrant childhood-onset disorders (1/337 conceptions) through analysis of 114 selected gene-condition pairs. A significant contribution to fetal disease risk was observed for rare (carrier rate < 1:100) and X-linked conditions (16.7% and 41.2% of total FDR, respectively). Subgroup analysis of 776 IVF couples identified 37 at increased reproductive risk (4.8%; 95% CI = 3.4-6.5). Further, two additional couples had increased risk for very rare conditions when both members of a parental pair were treated as a unit and the search was extended to the entire exome. About 2.3% of participants showed at least one pathogenic variant for genes included in the updated American College of Medical Genetics and Genomics v2.0 list of secondary findings. Gamete donors and IVF couples showed similar carrier burden for both carrier screening and secondary findings, indicating no causal relationship to fertility. These translational research data will facilitate development of more effective PCS strategies that maximize clinical sensitivity with minimal counterproductive effects.
Topics: Adult; Child; Child, Preschool; Directed Tissue Donation; Exome; Female; Genes, Recessive; Genetic Carrier Screening; Genetic Predisposition to Disease; Genetic Testing; Genome, Human; Genomics; Heterozygote; Humans; Infant; Infant, Newborn; Infertility; Male; Mutation; Translational Research, Biomedical; Exome Sequencing
PubMed: 31589614
DOI: 10.1371/journal.pgen.1008409 -
Clinics (Sao Paulo, Brazil) 2013The misconception that infertility is typically associated with the female is commonly faced in the management of infertile men. It is uncommon for a patient to present... (Review)
Review
The misconception that infertility is typically associated with the female is commonly faced in the management of infertile men. It is uncommon for a patient to present for an infertility evaluation with an abnormal semen analysis report before an extensive female partner workup has been performed. Additionally, a man is usually considered fertile based only on seminal parameters without a physical exam. This behavior may lead to a delay in both the exact diagnosis and in possible specific infertility treatment. Moreover, male factor infertility can result from an underlying medical condition that is often treatable but could possibly be life-threatening. The responsibility of male factor in couple's infertility has been exponentially rising in recent years due to a comprehensive evaluation of reproductive male function and improved diagnostic tools. Despite this improvement in diagnosis, azoospermia is always the most challenging topic associated with infertility treatment. Several conditions that interfere with spermatogenesis and reduce sperm production and quality can lead to azoospermia. Azoospermia may also occur because of a reproductive tract obstruction. Optimal management of patients with azoospermia requires a full understanding of the disease etiology. This review will discuss in detail the epidemiology and etiology of azoospermia. A thorough literature survey was performed using the Medline, EMBASE, BIOSIS, and Cochrane databases. We restricted the survey to clinical publications that were relevant to male infertility and azoospermia. Many of the recommendations included are not based on controlled studies.
Topics: Azoospermia; Humans; Infertility, Male; Male; Semen Analysis
PubMed: 23503951
DOI: 10.6061/clinics/2013(sup01)03 -
Andrology Jul 2018Oligo-astheno-teratozoospermia is frequently reported in men from infertile couples. Its etiology remains, in the majority of cases, unknown with a variety of factors to... (Review)
Review
BACKGROUND
Oligo-astheno-teratozoospermia is frequently reported in men from infertile couples. Its etiology remains, in the majority of cases, unknown with a variety of factors to contribute to its pathogenesis. The aim of this European Academy of Andrology guideline was to provide an overview of these factors and to discuss available management options.
MATERIALS AND METHODS
PubMed was searched for papers in English for articles with search terms: male infertility and oligo-astheno-teratozoospermia. For evidence-based recommendations, the GRADE system was applied. Issues related to urogenital infections/inflammations have not been included in this document as they will be covered by separate guidelines.
RESULTS
For men with oligo-astheno-teratozoospermia, the European Academy of Andrology recommends: A general physical examination to assess signs of hypogonadism. A scrotal physical examination to assess (i) the testes and epididymes for volume and consistency, (ii) deferent ducts for total or partial absence, and (iii) occurrence of varicocoele. Performing two semen analyses, according to World Health Organization guidelines to define an oligo-astheno-teratozoospermia. An endocrine evaluation. A scrotal ultrasound as part of routine investigation. Karyotype analysis and assessment of Yq microdeletions in infertile men with a sperm concentration ≤5 × 10 /mL. Cystic fibrosis transmembrane conductance regulator gene evaluation in case of suspicion for incomplete congenital obstruction of the genital tract. Against quitting physical activity to improve the chance of achieving pregnancy. Against androgen replacement therapy to improve the chance of achieving pregnancy. Assisted reproduction techniques to improve the chance of achieving pregnancy, in case other treatment options are not available or not efficient. Androgen replacement therapy in patients with biochemical/clinical signs of hypogonadism, after completion of the fertility treatment.
CONCLUSION
These guidelines can be applied in clinical work and indicate future research needs.
Topics: Humans; Male; Oligospermia
PubMed: 30134082
DOI: 10.1111/andr.12502 -
Frontiers in Endocrinology 2020This expert opinion summarizes current knowledge on risk factors for infertility and identifies a practical clinical and diagnostic approach for the male and female... (Review)
Review
CAPSULE
This expert opinion summarizes current knowledge on risk factors for infertility and identifies a practical clinical and diagnostic approach for the male and female partners of an infertile couple aimed to improve the investigation and management of fertility problems.
BACKGROUND
Infertility represents an important and growing health problem affecting up to 16% of couples worldwide. In most cases, male, female, or combined factor can be identified, and different causes or risk factors have been related to this condition. However, there are no standardized guidelines on the clinical-diagnostic approach of infertile couples and the recommendations concerning infertility are sometimes lacking, incomplete, or problematic to apply.
OBJECTIVE
The aim of this work is to provide an appropriate clinical and diagnostic pathway for infertile couples designed by a multidisciplinary-team of experts. The rationale is based on the history and physical examination and then oriented on the basis of initial investigations. This approach could be applied in order to reduce variation in practice and to improve the investigation and management of fertility problems.
METHODS
Prominent Italian experts of the main specialties committed in the ART procedures, including gynecologists, andrologists, embryologists, biologists, geneticists, oncologists, and microbiologists, called "InfertilItaly group", used available evidence to develop this expert position.
OUTCOMES
Starting from the individuation of the principal risk factors that may influence the fertility of females and males and both genders, the work group identified most appropriate procedures using a gradual approach to both partners aimed to obtain a precise diagnosis and the most effective therapeutic option, reducing invasive and occasionally redundant procedures.
CONCLUSIONS
This expert position provides current knowledge on risk factors and suggests a diagnostic workflow of infertile couples. By using this step-by-step approach, health care workers involved in ART, may individuate a practical clinical management of infertile couples shared by experts.
Topics: Expert Testimony; Female; Humans; Infertility, Female; Infertility, Male; Male; Practice Guidelines as Topic; Risk Factors
PubMed: 33542705
DOI: 10.3389/fendo.2020.591837 -
Nature Medicine Nov 2008Reproduction is required for the survival of all mammalian species, and thousands of essential 'sex' genes are conserved through evolution. Basic research helps to... (Review)
Review
Reproduction is required for the survival of all mammalian species, and thousands of essential 'sex' genes are conserved through evolution. Basic research helps to define these genes and the mechanisms responsible for the development, function and regulation of the male and female reproductive systems. However, many infertile couples continue to be labeled with the diagnosis of idiopathic infertility or given descriptive diagnoses that do not provide a cause for their defect. For other individuals with a known etiology, effective cures are lacking, although their infertility is often bypassed with assisted reproductive technologies (ART), some accompanied by safety or ethical concerns. Certainly, progress in the field of reproduction has been realized in the twenty-first century with advances in the understanding of the regulation of fertility, with the production of over 400 mutant mouse models with a reproductive phenotype and with the promise of regenerative gonadal stem cells. Indeed, the past six years have witnessed a virtual explosion in the identification of gene mutations or polymorphisms that cause or are linked to human infertility. Translation of these findings to the clinic remains slow, however, as do new methods to diagnose and treat infertile couples. Additionally, new approaches to contraception remain elusive. Nevertheless, the basic and clinical advances in the understanding of the molecular controls of reproduction are impressive and will ultimately improve patient care.
Topics: Animals; Biology; Cell Communication; Disorders of Sex Development; Humans; Infertility; Meiosis; Sex Determination Processes
PubMed: 18989307
DOI: 10.1038/nm.f.1895 -
Fertility and Sterility Jun 2015Diagnostic evaluation for infertility in women should be conducted in a systematic, expeditious, and cost-effective manner to identify all relevant factors with initial... (Review)
Review
Diagnostic evaluation for infertility in women should be conducted in a systematic, expeditious, and cost-effective manner to identify all relevant factors with initial emphasis on the least invasive methods for detection of the most common causes of infertility. The purpose of this committee opinion is to provide a critical review of the current methods and procedures for the evaluation of the infertile female, and it replaces the document of the same name, last published in 2012 (Fertil Steril 2012;98:302–7).
Topics: Diagnostic Techniques, Obstetrical and Gynecological; Female; Humans; Infertility, Female; Infertility, Male; Male; Ovarian Function Tests; Physical Examination; Practice Guidelines as Topic; Reproductive Medicine; United States
PubMed: 25936238
DOI: 10.1016/j.fertnstert.2015.03.019