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Emerging Technologies: Uterus Transplantation

Acknowledgments The author would like to acknowledge Dr. Michal Silber for her critical review of this manuscript. This work was supported in part by Health Resources and Services Administration contract HHSH250-2019-00001C. The content is the responsibility of the authors alone and does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or…

Emerging Technologies: Genetic Interventions in the Human Germ Line: Mitochondrial Replacement and Gene Editing

Mitochondrial replacement is a heritable genetic change that can prevent mitochondrial disease but is not involve an alteration of the actual DNA sequence and is thus distinct from gene editing. Gene editing may provide a path to prevent the transmission of heritable mutations in the nuclear genome. Novel powerful tools to edit genes continue to emerge, but most have not been tested extensively in human embryos…

Emerging Technologies: In Vitro- Derived Germ Cells and Gametogenesis

Introduction Louise Brown was born on July 25, 1978, and was the first baby born using the technology known as in vitro fertilization (IVF). Louise’s parents, John and Lesley Brown, were infertile because Lesley had blockages in her oviducts, so her eggs could not travel to her uterus or be fertilized by John’s sperm. Louise was possible because her father was able to produce sperm that could…

Fertility Preservation

Acknowledgments The authors thank Teresa K. Woodruff, PhD, Kristin Smith for laying strong foundations with the first editions of this book chapter, and Mahmoud Salama for his assistance updating the fertility preservation reference tables. They also thank Stacey C. Tobin, PhD, for editorial assistance. Treatment strategies for oncologic and nononcologic conditions may threaten fertility. Genetic conditions and physiologic reproductive aging may also impact fertility potential. Specific…

Gamete and Embryo Manipulation

Laboratory Environment Conditions in the IVF laboratory must be tightly regulated to replicate physiologic parameters. The laboratory macroenvironment should be free of contaminants and the air quality rigorously controlled. Establishment of a suitable microenvironment for laboratory procedures involves quality control to maintain consistent pH and temperature. In vivo, sperm and egg unite, and preimplantation embryos develop within specific, narrowly defined, physiologic parameters under sterile conditions. Part of…

Assisted Reproduction: Clinical Practice

Introduction The term Assisted Reproduction incorporates a wide range of technologies that are used to enhance the probability of achieving a pregnancy after the collection and direct handling of oocytes, sperm, and the resulting embryos outside the body. The mainstay of these technologies is in vitro fertilization and embryo transfer (IVF-ET), in which aspirated oocytes are fertilized, followed by the transcervical replacement of an embryo(s) into the…

Medical Approaches to Ovarian Stimulation for Infertility

Concepts of Ovarian Stimulation Ovarian stimulation can be applied for the medical treatment of anovulatory infertility (i.e., ovulation induction) or for infertility treatment in ovulatory women. Ovarian stimulation is a central component of many infertility therapies. It is important to emphasize that different concepts of ovarian stimulation exist: (1) ovulation induction, (2) ovarian stimulation with timed intercourse or IUI, and (3) ovarian stimulation for IVF. These…

Pelvic Imaging in Reproductive Endocrinology

Ultrasound investigation for subfertility, PALM-COEIN, müllerian anomalies, deeply invasive endometriosis, miscarriage, pregnancy of unknown location A single-visit ultrasound-based approach in the investigation of subfertility has gained widespread acceptance ( Table 33.1 ). Two-dimensional (2D) ultrasound is the primary tool for the initial investigation of the pelvis and provides a diagnostically accurate, minimally invasive, and cost-effective assessment tool. Technological improvements in high-resolution transvaginal probes, and the use…

Evaluation of Hormonal Status

Introduction This chapter reviews the assessment of hormonal status in the practice of reproductive endocrinology. It is acknowledged that the patient will often provide useful biologic information, such as changes induced by hypoestrogenism, skin changes with androgen excess, and galactorrhea in hyperprolactinemia. The clinically relevant symptoms and signs associated with various disorders will be discussed in other chapters in this text. Here we will describe various…

Transgender Hormonal Treatment

Introduction Gender identity is biological. Transgender individuals have gender identities that differ from the sex recorded at birth. Gender identity is a person’s intrinsic sense of being male, female, neither, or a combination of both. , Transgender is an umbrella term that refers to individuals whose gender identities differ from the sex recorded at birth, usually based on external genitalia, whereas cisgender describes individuals whose gender…

Hormone-Responsive Cancers

Breast Cancer Breast cancer is the most common cancer in women. Breast cancers are molecularly classified into luminal A, luminal B, basal-like, and HER2-enriched breast cancers. Clinically, breast cancers are classified as hormone receptor-positive, HER2 positive, or triple negative. The majority of breast cancers are hormone receptor-positive (express the estrogen receptor or progesterone receptor). Despite effective endocrine treatments that target the estrogen receptor, resistance to these…

Endocrine Diseases of Pregnancy

Diabetes Mellitus Pregnancy is a diabetogenic state. Control of maternal glucose metabolism is shared by the mother and the fetoplacental unit. Changes such as insulin resistance and reduced peripheral glucose uptake provide a continuous supply of glucose for the developing fetus. The fetoplacental unit is responsible for pregnancy-induced insulin resistance, primarily through the production of antiinsulin hormones including growth hormone, human chorionic somatomammotropins, cortisol, and progesterone.…

Recurrent Pregnancy Loss

Introduction Definition Pregnancy loss (PL) refers to the spontaneous demise of a pregnancy before reaching viability. Definitions for recurrent pregnancy loss (RPL) vary between two and three losses, and whether confirmation by ultrasonography or histopathology is required. , A clinical investigation into RPL is usually initiated after two failed clinical pregnancies, defined as the presence of an elevated hCG and ultrasound confirmation of a gestational sac.…

Endometriosis

Introduction Severe primary dysmenorrhea, repeated episodes of ovulation and retrograde menstruation, and pelvic endometriosis visualized by laparoscopy probably represent the early and progressive stages of the same disease process. An average patient with endometriosis suffers from its symptoms for decades. Severe menstrual pelvic pain initially experienced during the teenage years gradually evolves in quality and severity as the inflammatory stimuli from pelvic disease persist and the…

Benign Uterine Diseases and Dysfunction

Abnormal Uterine Bleeding Abnormal uterine bleeding affects up to one-third of reproductive-age women and accounts for a third of all outpatient gynecologic visits. The Federation Internationale de Gynecologie et d’Obstetrique (FIGO) has created a classification of causes of abnormal uterine bleeding, PALM COEIN, which has helped to organize the approach to treatment. Abnormal uterine bleeding is a common cause of anemia and can be acute or…

Endocrine Disturbances Affecting Reproduction

Pituitary Disorders Hypopituitarism from pituitary tumors and trauma tends to follow an order of hormone loss: first GH, then LH/FSH, followed by TSH, and last ACTH . Serum prolactin elevations from stalk compression rarely exceed 250 ng/mL . Dopamine agonists are first-line therapy for prolactinomas; treatment indications include tumor size, galactorrhea, infertility, and estrogen deficiency . Overview As the “master gland,” the anterior pituitary gland controls…

Male Infertility

Introduction Infertility, defined as the inability to conceive after 12 months of regular, unprotected intercourse, affects 8 million couples in the United States, of which up to 50% have a male contributory factor. Overall, up to 12% of men of reproductive age worldwide suffer from male infertility. Fortunately, in the past 50 years, we have seen a tremendous increase in our understanding of male infertility and…

Female Infertility

Fertility is defined as the capacity to conceive and produce offspring. Infertility is the state of a diminished capacity to conceive and bear offspring. In contrast to sterility, infertility is not an irreversible state. In the past, infertility was defined as the inability to conceive after 12 months of frequent coitus. A recent and more inclusive definition of infertility is a disease characterized by the failure…

Polycystic Ovary Syndrome and Hyperandrogenic States

Introduction Understanding the clinical significance and pathophysiology of polycystic ovary syndrome (PCOS) has evolved over more than 175 years. The first description of enlarged, polycystic ovaries surrounded by a smooth capsule occurred in 1844 and was followed by similar observations, including a description of hyperthecosis in 1897. In the early 1900s, a growing awareness that irregular uterine bleeding was associated with multiple cystic follicles of the…

Physiological and Pathophysiological Alterations of the Neuroendocrine Components of the Reproductive Axis

The neuroendocrine control of reproduction is reviewed in Part 1, Chapter 1 of this volume. Reproductive dysfunction of central etiology can result from any process that disturbs the tightly regulated hypothalamic-pituitary system. The reproductive axis itself relies on pulsatile release of gonadotropin-releasing hormone (GnRH) from a collection of neurons that are distributed diffusely throughout the hypothalamus rather than within a discrete nucleus. Control of GnRH secretion…