This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.

Rheumatic (or systemic autoimmune) diseases disproportionately affect young women: the female-to-male ratio for patients with systemic lupus erythematosus during the reproductive years is approximately 9:1. In the mid- to late-twentieth century, women with rheumatic disease diagnoses were often advised to avoid pregnancy due to fear of disease exacerbation and adverse outcome. In more recent years, many women with rheumatic disease have deferred childbearing until a later age due to active disease or unsafe therapies. However, with advances in rheumatology therapies, obstetric monitoring, and reproductive medicine technologies, increasing numbers of women with rheumatic diseases are pursuing pregnancy. As a result, obstetricians and rheumatologists need to be aware of the current state of knowledge and the recommendations for management of pregnancy in these patients. Contraception and Pregnancy in Patients with Rheumatic Disease explains the basics of contraception, fertility treatment, and pregnancy in rheumatic disease patients and serves as a guide and reference tool for both rheumatologists and OB/GYNs. Most general rheumatologists and OB/GYNs have limited experience in caring for rheumatic disease patients during pregnancy, and many do not have ready access to expert colleagues in this area. This book summarizes the current state of knowledge and presents a general approach for assessment of the rheumatic disease patient considering pregnancy, hormonal contraception or infertility treatment.

This SpringerBrief analyzes varicocele from a novel approach, and provides the reader with a comprehensive view of its scientific and clinical significance. The Brief covers all the important aspects of varicocele related to infertility, from epidemiology to assisted reproduction techniques, contemplating pathophysiology, semen analysis, specialized sperm function tests, and clinical management including all available treatment options form three distinct perspectives, i.e., current concepts, consensus and controversies. Each topic is addressed using the same template, offering the best information from all angles to readers. This SpringerBrief is aimed at both clinicians and scientists involved in the study and care of male and female fertility, and is written by a team of three internationally recognized authors with expertise in andrology and male infertility. The text is the first of its kind, and presents an invaluable tool both for the basic scientists with an interest in reproductive medicine and for clinicians working in the field of infertility.

Advances in technology now offer promising solutions to deal with the chronological aging of the cell, tissue or organ to synchronize its existence and its use. This book covers the developments in and benefits of the latest vitrification technology and its extensive applications in reproductive medicine. Protocols of gametes (oocyte and sperm), embryos, blastocysts and ovarian tissue cryopreservation have been reviewed by leaders in the field. In order to address the escalation in cross-border reproductive tourism entailing the transfer of reproductive cells and tissues rather than the patient, the challenges, caution and emerging possibilities of nitrogen vapor shipment of vitrified cells have been discussed. Current perspectives on oocyte banking present the reader with options and solutions to effectively utilize these gametes despite the physiological deterrents.The versatile applications and potential of vitrification of human embryonic stem cells, discussed in the concluding chapter, is an exciting reality offered by vitrification to help overcome numerous stumbling blocks in the management of various disorders.

In recent years, the advancing science and increasing availability of assisted reproduction have given new hope to infertile couples. However, the use of IVF and ART has also led to marked increases in the number of multiple-infant live births. This poses a public health concern, as these neonates have a higher rate of pre-term delivery, compromising their survival chances and increasing their risk of lifelong disability. By optimizing the selection of gametes and embryos with high probabilities of implantation, it is possible to reduce the number of embryos transferred and, by extension, the number of high-risk multiple gestations, while maintaining or increasing pregnancy rates. Human Gametes and Preimplantation Embryos: Assessment and Diagnosis provides a broad yet concise overview of established and developing methodologies for assessment of gamete and embryo viability in assisted reproduction. This book elucidates the best practices for precisely selecting viable specimens based on morphology and cleavage rate and covers the spectrum of emerging adjunctive technologies for predicting reproductive potential. The authors present their extensive knowledge of "omics" approaches (genomics, transcriptomics, proteomics, and metabolomics), with unbiased delineation of the associated advantages and potential pitfalls. This valuable clinical resource is well suited to infertility specialists, Ob/Gyn physicians, IVF laboratory technicians, and researchers in the fields of embryology and reproductive medicine.

This book addresses the impacts of current and future reproductive technologies on our world food production and provides a significant contribution to the importance of research in the area of reproductive physiology that has never been compiled before. It would provide a unique opportunity to separate the impacts of how reproductive technologies have affected different species and their contributions to food production. Lastly, no publication has been compiled that demonstrates the relationship between developments in reproductive management tools and food production that may be used a reference for scientists in addressing future research areas. During the past 50 years assisted reproductive technologies have been developed and refined to increase the number and quality of offspring from genetically superior farm animal livestock species. Artificial insemination (AI), estrous synchronization and fixed-time AI, semen and embryo cryopreservation, multiple ovulation and embryo transfer (MOET), in vitro fertilization, sex determination of sperm or embryos, and nuclear transfer are technologies that are used to enhance the production efficiency of livestock species.

There are several types of damage that can be found in the male gamete. Genetic damage in spermatozoa can originate during spermatogenesis, or it can originate during transit in both male and female genital tracts. Damage can also be due to ageing, environmental or iatrogenic conditions, as well as to the protocols to cryopreserve and to select spermatozoa in assisted reproduction techniques. The purpose of this book is to provide a comprehensive resource for all possible DNA damages in sperm, the relation to fertility and infertility, and possible transgenerational heritable effects.

In this book, leading academics and practitioners in the field of reproductive health address topics such as contraception, abortion, sexually transmitted infections, maternal and prenatal health, sexuality and reproductive rights by examining a number of critical issues in these areas. The authors describe new research, identify gaps and priorities in policy and practice, and illustrate innovative solutions. The book further addresses such current imperatives as understanding the social meanings of emergency contraception, measuring gender-based violence, improving reproductive health governance, strengthening health systems and services, and redressing institutional barriers. The book also assesses how reproductive health programs can be reconfigured to new challenges such as those posed by climate change, vulnerable youth in fragile states, and risks from new infertility treatments. Using a rich and varied set of cases, a broad public health and social science perspective, and novel methodological approaches, this book questions common assumptions, illustrates effective solutions and sets out research, policy, and programmatic agendas for the present and future. This is a comprehensive volume which provides a valuable resource to researchers, educators, practitioners, policymakers and students, as well as anyone studying or advocating for reproductive health.

Clinical Reproductive Medicine and Surgery offers a succinct overview of both the medical and surgical management of reproductive disorders, as well as coverage of associated imaging modalities. The book includes chapters on major reproductive endocrinology and infertility issues such as polycystic ovary syndrome and amenorrhea, management of endometriosis and fibroids (including interventional radiology), imaging modalities such as ultrasonography and sonohysterography, preservation of fertility, and recurrent pregnancy loss. Residents, fellows, and practitioners interested in reproductive endocrinology and infertility will find this focused and practical text invaluable.

The book considers signaling events from the zygote embryo through to the blastocyst with relevant data from embryonic stem (ES) cells, including dialogue with the extracellular environment and with the maternal tract during the implantation process. Application of the knowledge described to improve the success of human and animal assisted conception is considered where appropriate, but the focus is largely on fundamental rather than applied cell/molecular biology, as this is the area that has historically been neglected. While the general features of metabolism during preimplantation development are well established, especially in terms of nutrient requirements, uptake and fate, remarkably little is known about early embryo signaling events, intracellular or intercellular, between individual embryos in vitro or with the female reproductive tract in vivo. This contrasts with the wealth of information on cell signaling in somatic cells and tissues, as a glance at any textbook of biochemistry illustrates. This lack of information is such that our understanding of the molecular cell biology of early embryos -- a prerequisite to defining the mechanisms which regulate development at this critical stage of the life cycle -- is seriously incomplete. This volume is the first to address this issue by describing the current state of knowledge on cell signaling during mammalian early embryo development and highlighting priority areas for research.

Fertility preservation has become one of the most important and fast growing fields of reproductive medicine. Although there are several strategies for fertility preservation in female, most of them are still considered experimental. It is important to perfect the existing technologies, but also developing new strategies should be actively sought. The future development of fertility preservation strategies should be based on the sound scientific knowledge and principles. One of the main objectives of fertility preservation in females is prevention of oocyte depletion. The mechanisms of oocyte loss and survival in the ovary are complex, which include genetic control both in germ cells and in somatic cells, DNA damage and repair mechanism, apoptosis and autophagy, and other poorly understood molecular mechanisms. To develop clinically effective and safe strategies for fertility preservation, it is essential to know and understand the fundamentals of oocyte and ovarian biology at the molecular level. Thus, the purpose of this edition is to review the current progress in research related to molecular and genetic control of oocyte development that can be applied to fertility preservation. The main topics that are discussed in this publication include molecular signaling mechanisms of oocyte activation and loss, genomic integrity of oocytes, and epigenetics.

Brown Bodies, White Babies focuses on the practice of cross-racial gestational surrogacy, in which a woman - through in-vitro fertilization using the sperm and egg of intended parents or donors - carries a pregnancy for intended parents of a different race. Focusing on the racial differences between parents and surrogates, this book is interested in how reproductive technologies intersect with race, particularly when brown bodies produce white babies. While the potential of reproductive technologies is far from pre-determined, the ways in which these technologies are currently deployed often serve the interests of dominant groups, through the creation of white, middle-class, heteronormative families. Laura Harrison, providing an important understanding of the work of women of color as surrogates, connects this labor to the history of racialized reproduction in the United States. Cross-racial surrogacy is one end of a continuum in which dominant groups rely on the reproductive potential of nonwhite women, whose own reproductive desires have been historically thwarted and even demonized. Brown Bodies, White Babies provides am interdisciplinary analysis that includes legal cases of contested surrogacy, historical examples of surrogacy as a form of racialized reproductive labor, the role of genetics in the assisted reproduction industry, and the recent turn toward reproductive tourism. Joining the ongoing feminist debates surrounding reproduction, motherhood, race, and the body, Brown Bodies, White Babies ultimately critiques the new potentials for parenthood that put the very contours of kinship into question.

Comprised exclusively of clinical cases covering abnormal female puberty and its clinical management, this concise, practical casebook will provide clinicians in reproductive endocrinology, gynecology and pediatrics with the best real-world strategies to properly diagnose and treat the various forms of the condition they may encounter. Each chapter is a case that opens with a unique clinical presentation, followed by a description of the diagnosis, assessment and management techniques used to treat it, as well as the case outcome and clinical pearls and pitfalls. Cases included illustrate different causes of abnormal puberty as well as management strategies, including congenital anomalies, endocrine disorders, issues of constitutional delay, obesity, eating disorders, ovarian cancer and the effect of pharmacology, among others. Pragmatic and reader-friendly, Abnormal Female Puberty: A Clinical Casebook will be an excellent resource for reproductive endocrinologists, gynecologists and pediatricians alike.

Expectations of the potential of regenerative medicine have risen recently because of exciting research results. This book contains contributions from leading researchers who describe their successes and the problems that remain in converting the hopes into concrete therapies. The focus of the book is on the role of stem cells in two main areas -- reproduction and the brain -- described from molecular, cellular, in vivo and clinical perspectives.

The world's population is growing at an unsustainable rate. From a baseline ?gure of one billion in 1800, global population is predicted to exceed nine billion by 2050 and 87. 8% of this growth will be localized in less developed countries. Such uneven population growth will yield a harvest of poverty, malnutrition, disease and en- ronmental degradation that will affect us all. Amongst the complex mixture of political, social, cultural and technological changes needed to address this issue, the development of improved methods of fertility regulation will be critical. The inadequacy of current contraceptive technologies is indicated by recent data s- gesting that the contraceptive needs of over 120 million couples go unmet every year. As a direct consequence of this de?cit 38% of pregnancies are unplanned and more than 50% end in an abortion, generating a total of 46 million abortions per annum particularly among teenagers. If safe, effective contraceptives were ava- able to every couple experiencing an unmet family planning need, 1. 5 million lives would be saved each year (UNFPA 2003). Progress in contraceptive technology should not only generate more effective methods of regulating fertility, but should also provide a range of methods to meet the changing needs of the world's population. Contraceptive practice was revo- tionized in 1960 in the US and 1961 in Europe by the introduction of the oral contraceptive pill by Gregory Pincus, MC Chang and colleagues, based on fun- mental hormone research conducted in Germany.

Fertility Awareness is key to understanding sexual and reproductive health at all life stages. It can be used to either plan or avoid pregnancy. Fertility Awareness Methods (FAMs) are highly effective when motivated couples are taught by trained practitioners. These methods are in demand for ecological, medical, cultural, religious and moral reasons. The ability to control fertility naturally is a lifestyle choice. The Complete Guide to Fertility Awareness provides the science and methodology suitable for health professionals and a general audience. It covers reproductive physiology and the fertility indicators: temperature, cervical secretions and cycle length calculations. It explores ways to optimise conception and to manage conception delays. Case studies and self-assessment exercises are included throughout. The book addresses the scientific credibility of new technologies including fertility apps, home test kits, monitors and devices. The Complete Guide to Fertility Awareness offers: evidence-based information for general practitioners, practice nurses, school nurses, midwives, sexual health doctors and nurses a unique perspective on subfertility for gynaecologists and fertility nurses an authoritative source of reference for medical, nursing and midwifery students a straightforward and practical reference for new and experienced FAM users the core text for the FertilityUK Advanced Skills Course in Fertility Awareness

Polycystic ovary syndrome (PCOS) is a classic female infertility condition affecting an estimated 6-10% of all women, many of whom are unaware of the problem. A disease that affects women from adolescence to menopause, PCOS is the single most common endrocrinologic abnormality affecting women. This book is an edited collection of writings that comprehensively covers the disease, from diagnosis and epidemiology of PCOS to clinical evaluation.

Historically, sperm have been seen as simply a mechanism of transferring a haploid set of chromosomes to the oocyte. However, data from assisted reproduction therapies (ART) have demonstrated that in many couples the sperm appears to be responsible for abnormal embryogenesis. Recent advances in genetic and epigenetic techniques have identified key mechanisms by which the sperm, and the DNA carried by the sperm, can affect early embryonic development. Paternal Influences on Human Reproductive Success examines the genetic and epigenetic influences on embryogenesis, as well as practical clinical factors related to the male contribution to reproductive success. It also provides 'cutting edge' data and analysis of recent evaluations of the role of advanced paternal age, environmental influences and lifestyle factors on male reproductive fitness, making this an invaluable text for physicians treating patients for infertility, recurrent pregnancy loss, and developmental anomalies, as well as basic scientists studying embryogenesis and spermatogenesis.

Anovulation - one of the most common causes of infertility - is here given a thorough review, with classification of the different subtypes, how they are diagnosed, how they are treated, and the possible complications and outcomes involved. This is a comprehensive evidence-based summary from an international expert team, with guidelines for daily practice clearly stated and summarized for your convenience.

Women with chronic medical problems are at higher risk for complications during pregnancy and, therefore, they are especially in need of appropriate preconception and contraception care. Furthermore, many women with chronic medical problems do not obtain adequate preconception and contraception care. Despite published guidelines by the Centers for Disease Control and Prevention, there is a substantial gap in medical practice regarding the use of contraception in women with co-existing medical problems. Contraception for the Medically Challenging Patient fills the gap that currently exists in the knowledge of correct contraceptive prescribing practice and shows that inappropriate contraindications can easily become a barrier to effective contraception use among women. Chapters highlight obsolete views about appropriate candidates for contraception and address the complex contraceptive needs of today's medically challenging patients with HIV/AIDS, uterine fibroids, or cardiac, neurologic or thyroid disease. The book gives attention to recommendations on the use of contraception in women with medical problems such as diabetes, obesity, epilepsy, and lupus, among others, and provides comprehensive information regarding the effects that certain drugs may have on contraceptive hormone levels. While national guidelines do exist for contraceptive eligibility, this book discusses in more detail the evidence behind the guideline recommendations and the nuances that clinicians confront in daily practice.

This volume covers data describing the role of free radicals and antioxidants that deal with clinical and pre-clinical trials, as well as basic research in the area of women's health. There is increasing evidence that oxidative stress is a causative, or at least a supporting factor in female pathology and infertility. During advancing gestational age, oxidative stress biomakers rise. Oxidative stress plays a regulatory role in transcription, signal transduction, gene expression and membrane trafficking. A search on Pub Med shows 449 papers have been published to date related to women's health disorders and use of antioxidants in a variety of disease that are prevalent in women, such as hypertension and cardiovascular disease, osteoporosis, obesity and restless leg syndrome.

In his 35 years of teaching medical students and trainees Professor Gabor Kovacs, International Medical Director of Monash IVF, has devised a system of lectures which cover the entire core curriculum in Obstetrics and Gynaecology. The principle behind these lectures is to help the student understand various aspects of the specialty, rather than simply learning the key topics, and encourages ongoing problem solving as well as a more logical approach. Each of the lectures have been based around highly informative diagrams and tables, and each syndrome follows a set template making each topic very understandable and easy to assimilate. This will be an invaluable text for medical students, nursing and midwifery students, trainees in obstetrics and gynaecology as well as sexual and reproductive health, general and nurse practitioners.

Sex matters! Are there differences between the sexes when it comes to brain function and the behaviours that result? This volume attempts to answer this fundamental question. If the answer is 'yes' then this should impact upon our approach to treating mental illness in humans, and to modelling it in animals, as we look for aetiological and pharmacological solutions.

This book discusses the various antioxidants that are in use to overcome oxidative stress in an assisted reproduction setting. Antioxidant therapies may range from enzymatic and non-enzymatic antioxidants, either alone or in combination. While no one antioxidant regime has been identified as effective in improving fertilization and pregnancy rates, antioxidant supplementation has been shown to defend sperm cells from lipid peroxidation and oxidative damage to DNA, and thus improve pregnancy rates. The prevention of oxidative stress and its consequent damage is imperative to ensure a successful outcome of the in vitro fertilization procedure and embryo transfer. Strategies that could be employed to minimize or prevent the detrimental effects of OS during assisted reproduction include supplementation with various types of antioxidants.

Proceedings of the 2nd World Conference - Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology. The meeting took place at The Eden Roc Hotel in Miami Beach, Florida, 1/15/10 - 1/17-10. Endocrinology and more specifically, the area of sexual differentiation disorders is an evolving field of medicine. The diagnosis and treatment of Disorders of Sex Development (DSD) is multi-faceted.