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1. Human Reproduction Essentials DR THOMAS .S

2. CONTENTS CONTENTS 01 Human Reproduction 02 Clinical Implications

3. 01 Human Reproduction PART 01

4. Reproductive Anatomy Overview 01 Male Reproductive System The male reproductive system includes the testes, which produce sperm and testosterone; the vas deferens, which transports sperm; the prostate gland, which secretes nourishing fluid; and the penis, used for copulation and sperm delivery. 02 Female Reproductive System The female reproductive system comprises the ovaries, which produce oocytes and hormones; the fallopian tubes, where fertilization occurs; the uterus, where implantation and fetal growth happen; and the vagina, which serves as the birth canal. 03 Gametogenesis Gametogenesis involves the production of sperm in males and ova in females. Spermatogenesis occurs in the testes, while oogenesis takes place in the ovaries, resulting in mature gametes essential for conception. 04 Fertilization and Implantation Fertilization occurs when a sperm penetrates an ovum, forming a zygote. The zygote undergoes cleavage, forming a blastocyst that implants into the uterine endometrium, initiating pregnancy.

5. Hormonal Cycle Control FSH and LH Functions FSH: stimulates follicle growth and maturation in the ovary. LH: surge triggers ovulation (release of the mature ovum). LH also maintains the corpus luteum after ovulation . Estrogen and Progesterone Roles Estrogen, produced by ovarian follicles, promotes endometrial proliferation and enhances cervical mucus for sperm penetration. Progesterone, secreted by the corpus luteum, maintains the endometrium and inhibits uterine contractions. The HPG axis controls reproductive hormones. The hypothalamus releases GnRH, stimulating the pituitary to secrete FSH and LH, which regulate follicle maturation and ovulation in females and sperm production in males. Hypothalamic–Pituitary–Gonadal Axis Clinical Relevance: Disruption of this cycle → anovulation, irregular cycles, infertility. Disorders like PCOS, hypothyroidism, and hyperprolactinemia can affect cycle regularity and fertility

6. Human Embryology & Genetics 1. Early Embryonic Development Fertilization occurs when a sperm penetrates the ovum, forming a zygote with a full set of chromosomes (46). The zygote undergoes rapid mitotic divisions (cleavage) forming a morula → then develops into a blastocyst by day 5. By days 6–7, the blastocyst attaches and implants into the uterine endometrium, establishing the foundation for pregnancy 2. Organogenesis and Genetic Disorders Weeks 3–8 critical window During this period, the three germ layers (ectoderm, mesoderm, endoderm) differentiate to form major organs. This is the most sensitive stage for teratogenic insults (e.g., infections, toxins, radiation). Structural anomalies like congenital heart defects, neural tube defects, or limb malformations often arise during this stage.

7. Human Embryology & Genetics 3. Genetics: Inheritance Patterns & Chromosomal Anomalies Mendelian inheritance: Autosomal dominant, autosomal recessive, X-linked. Chromosomal anomalies: Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Turner syndrome (45,XO). These abnormalities may cause miscarriage , congenital malformations, or intellectual disability. 4. T eratogens Substances or agents that disrupt normal embryonic development. Examples: Drugs: thalidomide (limb defects), isotretinoin (craniofacial anomalies). Infections: rubella, cytomegalovirus, toxoplasmosis, syphilis. Radiation and heavy metals. Prevention includes preconception counseling , folic acid supplementation, and avoiding known teratogens

8. Embryology and genetics explain how life begins, how development can be disrupted, and why prevention and counseling are critical in reproductive health Key Message …

9. 02 Clinical Implications PART 02

10. Infertility = inability to conceive after 12 months of unprotected intercourse. Causes: male factors (low sperm count, motility issues), female factors (ovulation disorders, tubal blockage, endometriosis). ART options: In vitro fertilization (IVF) – fertilization occurs outside the body, embryo transferred into uterus. Intracytoplasmic sperm injection (ICSI) – sperm directly injected into egg. Donor gametes and surrogacy in select cases. Clinical challenges: cost, availability, cultural acceptance, and emotional burden for couples Infertility & Assisted Reproductive Technology (ART)

11. Preconception screening: carrier testing for conditions like thalassemia, cystic fibrosis, sickle cell anemia. Prenatal screening: ultrasound, maternal serum markers, non-invasive prenatal testing (NIPT). Diagnostic tests: amniocentesis, chorionic villus sampling (CVS). Purpose: early detection of abnormalities, informed decision-making, and preparation for management. Counseling is crucial to ensure patients understand risks, outcomes, and options Genetic Screening & Counselling

12. Issues include: Rights of embryos (in IVF, frozen embryos). Selective termination and gender selection. Surrogacy and parenthood disputes. Access to ART in low-resource settings. Ethical principles: respect for autonomy, beneficence, non-maleficence, and justice. Providers must balance scientific possibilities with ethical responsibility and legal frameworks . Ethical & Legal Aspects in Reproduction

13. Scientific knowledge must translate into compassionate, ethical, and patient-centered reproductive healthcare that respects both medical evidence and human values. Key Message …

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