Dana Kimelman

Polycystic Ovary Syndrome

Polycystic ovary syndrome (PCOS) is a common endocrine disorder that affects almost 15% of women of reproductive age. As this disease is a syndrome, it affects different aspects of women health; it is much more prevalent in obese patients and affects different body systems leading to reproductive and metabolic complications. This chapter reviews different aspects of the disease, epidemiology, effect on menstrual cycle, hormonal implications, clinical manifestations, ultrasound findings, treatment options, and the effect on fertility. The goal is that all kind of physicians will achieve basic knowledge and will be able to diagnose this disease and derivate these patients to gynecologist and endocrinologist for correct treatment.

The use of a virtual journal club to promote cross-cultural learning in the reproductive sciences

PurposeScientific literacy and communication are critical skills in the biological sciences. Journal clubs, in which peer-reviewed academic literature is discussed, are traditionally used to teach students to evaluate the literature, review scientific findings, and learn about historical, controversial, or current topics.MethodsWe used a virtual journal club to facilitate the international interaction between two universities with master’s degree programs in the reproductive sciences: the University of Murcia (Spain) and Northwestern University (USA). The virtual journal club occurred over a 2-hour period and was held using Blue Jeans Conferencing Service software and involved a total of 29 students. During this event, the students who were separated physically by thousands of miles discussed and exchanged ideas about a high-impact publication in real time. A survey assessment was administered to students at the University of Murcia following the event.ResultsPositive perceptions included the establishment of cross-institutional interactions and the ability to practice scientific communication in another language. Areas noted for improvement included preparation time and engagement opportunities.ConclusionOverall, the virtual journal club is an innovative technology that can easily be broadened and has the potential to foster collaboration, ameliorate multilingual communication, improve cultural competencies, and expand professional global networks.

Nonmalignant Hematologic Diseases

When we think about hematologic diseases, it is easier to think of malignant conditions. However, there are several nonmalignant hematologic conditions that may have a huge impact on patient’s quality of life. These patients need to receive an appropriate treatment, and starting treatment early is crucial for them to have a good life. This chapter reviews nonmalignant hematologic conditions in which the curative treatment has a negative impact on fertility: major thalassemia, sickle disease, and aplastic anemia. The goal of this chapter is to give general information about these diseases, clinical manifestations, diagnosis, and treatment and fertility preservation options in case if needed.

Autoimmune Diseases: Rheumatic Diseases

There are more than 100 rheumatic diseases, including degenerative, inflammatory, and autoimmune diseases. These diseases have a major impact on the patient’s quality of life. Patients may have several limitations, and they depend on having a good response to the treatment they need. Normally, these diseases are diagnosed in young patients, and because of the disease and the treatment, they may have their reproductive capacity affected. This chapter reviews frequent rheumatic diseases, their epidemiology, physiopathology, clinical manifestations, treatment, and effect on fertility.

Options for Preserving Fertility

Significant improvements in medical treatments have led to decreased morbidity and mortality among individuals with complex medical conditions. These individuals are living longer, fuller lives. Advances in reproductive medicine now allow individuals with complex medical conditions whose disease or its treatment may impair fertility, to undergo fertility preservation. Fertility preservation options are available for females and males of prepubertal and reproductive age. This chapter provides a brief overview of clinically and experimentally available fertility preservation and restoration options, as well as future directions. Topics include semen cryopreservation, gonadal shielding, testicular tissue cryopreservation, embryo cryopreservation, oocyte cryopreservation, ovarian tissue cryopreservation, and ovarian suppression.

Disorders of the Sex Chromosomes and Sexual Development

Sexual development is driven by a number of genetic factors, many of which are associated with the sex chromosomes. Typically, males have one X chromosome and one Y chromosome, while females have two X chromosomes. Differences in the number of sex chromosomes or pathogenic variants in genes involved in sex development often lead to differences in multiple body systems. Individuals with sex chromosome abnormalities and disorders of sexual development may be candidates for fertility preservation and discussion of genetic risk for future offspring. This chapter discusses gonadal function, fertility potential and preservation, and reproductive considerations for individuals with these disorders.

Premature Ovarian Insufficiency

Premature ovarian insufficiency is a multicausal non-frequent disease (1%) that has a high impact on women health; not only because it impairs fertility but it also has huge effects on global health due to hypoestrogenism, osteoporosis, and cardiovascular risks. We analyze different etiologies; idiopathic, genetic, autoimmune, and iatrogenic; and treatment options.

Autoimmune Diseases: Myasthenia Gravis and Multiple Sclerosis

Myasthenia gravis and multiple sclerosis are both autoimmune diseases that affect the neuromuscular system. Patients affected by these two diseases are frequently women younger than 40 years old. Multiple sclerosis has a relapsing and remitting course, but both diseases course with progressive deterioration. Their effect on fertility has to do more with their effect on self-esteem, sexuality, and the therapies these patients require. This chapter reviews the physiopathology of these diseases, the effect of their treatments, and effect on fertility.

Digestive Autoimmune Diseases: Inflammatory Bowel Disease

Inflammatory bowel diseases (IBDs) affect especially young patients in reproductive age. IBDs consist in a group of chronic inflammatory conditions that mainly affect the colon and the small intestine. The most frequent IBDs are Crohn’s disease and ulcerous colitis (UC) disease. IBDs significantly affect several reproductive aspects, not only fertility but sexual function. The goal of this chapter is to offer readers a detailed description of these two diseases from prevalence and etiology to clinical manifestations diagnosis and treatment and the effect of both diseases on the reproductive function.

Inborn Errors of Metabolism

Inborn errors of metabolism (IEMs) are a group of genetic disorders characterized by biochemical function abnormalities. Early diagnosis leads to early initiation of treatment and a significant decrease in morbidity and mortality. Infants and toddlers with inborn errors of metabolism may be candidates for hematopoietic stem cell transplantation (HSCT), which when conditioned with total body irradiation and gonadotoxic medications often results in infertility. Fertility preservation options should be discussed with families prior to initiation of HSCT with special consideration of the hereditary nature of each condition and the possible disease-related impaired cognitive outcome. This chapter reviews the known inborn errors of metabolism that are current candidates for HSCT. Please note that galactosemia is discussed in detail in Chapter 6, and gonadal failure is secondary to disease in galactosemia, rather than treatment.