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Female Genitourinary System External: Mons Vulva aka “perineum”; from mons pubis to anus. pubis = fat pad located over symphysis pubis. Labia majora –outer folds of skin within mons pubis. Labia minora –2 folds inside labia majora. Clitoris anterior to labia minora; func.similar to penis; contains erectile tissue. Either side of urethra: Skene’s glands > secretions > keep vaginal area moist. Either side of vagina: Bartholin’s glands >secrete mucous during intercourse. Visible with infection. Cervix: neck of uterus. “Os” opening Never pregnant: small, round os. + vagina delivery: slit-like Made of smooth muscle & connective tissue [2 types of epithelium: squamous & columnar]. Cells tested during Pap & analyzed for abnormalities. Func: allows sperm to enter & menstrual flow to exit. Uterus: upside down hollow pear-shaped muscle; Lies in pelvic cavity; tilts forward “anteverted”. Holds & protects growing fetus. 3 layers: endometrium, myometrium, perimetrium. Fundus: top portion; Endometrium sheds w.menses. Ovaries: small, oval-shaped organs [~ 2 cm by 3 cm by 1 cm] Influenced by FSH & LH - “gonadotropic hormones; causes ovum to grow & mature monthly. Produced by anterior pituitary gland. Ovaries connect to uterus by fallopian tube. Develop & release ova & produce hormones: estrogen, progesterone & testosterone [small amts.in females]. Ova released from ovary, enters fallopian tube, travels to uterus. Puberty: Anterior pituitary releases FSH & LH > androgens & estrogen [both females & males] > secondary sex characteristics. Reproductive age begins here; girls get menses earlier now - d/t PNV & better diets . Age 10-12 not uncommon. Gametogenesis: production of specialized sex cells [gametes]. Male and Female. By age 22, ~ 300,000 eggs remain; by menopause, none remain. Cyclic monthly release of eggs > “menses” or they are absorbed. ## of chromosomes in nucleus of gametes halved from 46 to 23 ( meiosis) [22 autosomes & 1 sex chromosome – either X or Y]. In females occurs before ovulation each month & in males occurs before puberty. Ovum have X chromosome & sperm have either X or Y. Male determines sex: XX=female; XY = male. Male Genitourinary System External: penis & scrotum. Male reproductive organ = penis. Shaft made of vascular erectile tissue. “Glans” tip/end of penis; covered by thin skin aka “foreskin”. Circumcision removes foreskin. Urethral “meatus” –slitlike opening located @ tip. Leads to tube “urethra” that reaches up to bladder. Func: reproduction & urination. Scrotum [thin walled sac] posterior & encloses testes. Surface > folds of skin aka “rugae” =normal. Protects testes, epididymis, & vas deferens. Internal Genitalia: scrotal sac divided in 2. One testis on each side. Oval shaped. Produce sperm & testosterone. Suspended by spermatic cords. Spermatic cord: blood vessels, lymphatic vessels, nerves, cremasteric muscle [very sensitive to temp.changes - controls rise & relaxation of scrotum in hot & cold weather] Keeps temp.cooler than normal Epididymis: lies over testes. Allows spermatozoa to mature. Vas deferens [part of epididymis] allows sperm to exit. Semen = sperm & secretions from glands [Cowper’s/prostate/bulbourethral] Breasts Pair of mammary glands 1] production & storage of milk = “lactation” 2] sexual stimulation. Male breasts = no func. Lie over pectoral muscles of anterior chest wall Extend from 2nd to 6th rib & from sternum to midaxillary line. Male & female breasts similar til puberty. Estrogen & progesterone, released by ovaries, causes growth of breast tissue @ puberty. Divided into 4 quadrants Breast skin smooth; color varies with skin tone. Nipple centrally located; microscopic openings [excretory ducts]>allow milk to pass [lactation] Areola darkened, circular area around nipple; has raised nodules [sebaceous glands] “Montgomery tubercles” - oily substance cleans nipple. Areola enlarges & darkens; does not return to normal size & color > preg. Color depends on person’s skin tone. Internal Structure: 3 types of tissue 1] Glandular: functional >> breast milk prod. Each breast 15-20 lobes Each lobe contain alveoli > made up of acinar cells. Alveoli secrete milk into lactiferous ducts where it passes > lactiferous sinuses [milk reservoirs] & released thru excretory ducts > nipple. 2] fat 3] muscle Amount of breast tissue affected by: Menses: Engorgement 3-5 days < menses. Breasts ^ in size, density, sensitivity, & nodularity. Menopause: breast tissue becomes less dense & decrease in size [d/t lack of estrogen]. Breast exam best done 1 week > menses. Pregnancy/Lactation: fuller & firmer; areola darkens; nipples erect. Produce colostrum & breast milk. Review Of Menses: Menstrual Cycle has 2 phases: uterine & ovarian. Uterine Phase: 1] menses 2] proliferative 3] secretory Menses: ~5 days [shedding of uterine lining] Proliferative: thickening of endometrium; day 5-14 Secretory: day 14-28; ↑ progesterone makes lining rich in nutrients. If no fertilization: progesterone & estrogen fall; lining degenerates. Menses 2-3days later. Menstrual flow: blood, mucous, frag.of endometrial tissue, & unfertilized ovum. . Ovulatory Phase: 1] follicular 2] ovulation 3] luteal Follicular: Influenced by FSH, one ovum grows & is surrounded by follicle. Mature graafian follicle moves to edge of ovary to release egg. Ovulation: occurs > LH surge; follicle ruptures & ovum released; waits to be fertilized in fallop.tube Luteal: if not fert.,ovum & corpus luteum shrink. If fert.,corpus luteum stays til ~10 -12 wks. Produces progesterone to sustain fetus/pregnancy until placenta develops GENETICS Basic Concepts Genetic information stored on tightly coiled strands of dexoxyribonicleic acid (DNA) called chromosomes. Chromosomes composed of DNA, histone proteins [+ charge] & non-histone proteins. Bind very tightly. Chromosomes contain thousands of genes; smallest units of heredity information Cells express only some of their genes. Genes expressed determine function of cell. If genes have incorrect information, defects follow. Mutations result from changes in DNA sequences. Normal number of chromosomes = 46. 22 pairs of autosomes & 1 pair of sex chromosomes = 23. “Meiosis” Female: meiosis: occurs before ovulation & in males occurs before puberty Human Genome Project (1990-2003); research on genetic mutations & inherited diseases. Identified ~ 30,000 genes in humans Pictorial analysis (karotype) can be performed on any tissue. (phenotype = what’s expressed) Genetic disorder can be classified as either congenital or hereditary Congenital : Present @ birth. Occurs @ conception. Can involve abnormal chromosome #, structure, or multifactorial (genes & environment ) Ex. Vent.septal defect, hypospadius, cleft lip & palate. Hereditary: Predetermined by family hx. Transferred from parent to child: Sickle cell disease, & cystic fibrosis. Some Currently Available DNA-Based Gene Tests Amyotrophic lateral sclerosis (ALS; Lou Gehrig's Disease; progressive motor function loss leading to paralysis & death) Alzheimer's disease* (APOE; late-onset variety of senile dementia) Ataxia telangiectasia (AT; progressive brain disorder resulting in loss of muscle control & cancers) Congenital adrenal hyperplasia (CAH; hormone deficiency; ambiguous genitalia & male pseudohermaphroditism) Cystic fibrosis (CF; disease of lung & pancreas results in thick mucous accumulations; chronic infections) Cont. Duchenne muscular dystrophy/Becker muscular dystrophy (DMD; severe to mild muscle wasting, deterioration, weakness) Dystonia (DYT; muscle rigidity, repetitive twisting movements) Fanconi anemia, group C (FA; anemia, leukemia, skeletal deformities) Factor V-Leiden (FVL; blood-clotting disorder) Fragile X syndrome (FRAX; leading cause of inherited mental retardation) Gaucher disease (GD; enlarged liver & spleen, bone degeneration) Cont. Inherited breast and ovarian cancer* (BRCA 1 and 2; early-onset tumors of breasts/ovaries) Hereditary nonpolyposis colon cancer* (CA; early-onset tumors of colon. Hemophilia A and B (HEMA & HEMB; bleeding disorders) Hereditary Hemochromatosis (HFE; ^^ iron storage disorder) Huntington's disease (HD; usually midlife onset; progressive, lethal, degenerative neurological disease) Cont. Myotonic dystrophy (MD; progressive muscle weakness; most common form of adult muscular dystrophy) Neurofibromatosis type 1 (NF1; multiple benign nervous system tumors that can be disfiguring; cancers) Tay-Sachs Disease (TS; fatal neurological disease of early childhood; seizures, paralysis) Phenylketonuria (PKU; progressive mental retardation d/t missing enzyme; corrected by diet) Adult Polycystic Kidney Disease (APKD; kidney failure & liver disease) Cont. Prader Willi/Angelman syndromes (PW/A; decreased motor skills, cognitive impairment, early death) Sickle cell disease ( blood cell disorder; chronic pain and infections) Spinocerebellar ataxia, type 1 (SCA1; involuntary muscle movements, reflex disorders, explosive speech) Spinal muscular atrophy (SMA; severe, usually lethal progressive muscle-wasting disorder in children) Thalassemias (anemias - reduced RBC levels) Mendel’s laws: [1866] Principles of dominance a. Genes not equal in strength b. Stronger gene produces an observable trait; called dominant c. Weaker gene; trait not seen; called recessive. Ex. brown eye color dominant over blue. F1 generation always dominant F2 generation produces both dominant & recessive traits Principle of segregation Paired chromosomes that contain genes from both parents separate during meiosis. Principle of independent assortment : Pair of one set of genes distributed in gametes in random fashion unrelated to other pairs; in other words… Chance determines whether maternal or paternal gene travels to specific gamete. How can children from the same parents look so different? Father's chromosomes >> his mother & father, Mother's “” >> her mother & father. To make sperm cell, ½ of genetic material is contributed. Which half? When sperm cells form, father's body randomly chooses genes from two halves of father's chromosomes. So, every sperm cell contains random mix of father's parents' genes. Same thing occurs when forming eggs. Therefore, each child that a couple produces is random mix of the 4 grandparents' genes. Categories of Genetic Disorders Trait determined by 2 genes: one from each parent. Autosomal-dominant: abnormal gene on autosome. require single copy of gene to be affected. One parent with disease for child to inherit disease. Bad gene dominates good gene. No "carrier“; everyone with genetic error gets disease. Inherited thru non-sex chromosomes, pairs 1-22. Each preg. 50/50 chance of having disease. Examples: Neurofibromatosis; adult Polycystic kidneys; Huntington’s chorea; Marfan syndrome; breast, ovarian, & colon CA . Autosomal Recessive: 2 abnormal genes to have disease. If 4 children produced & both parents carriers: STATISTICAL expectation: 1 child: 2 normal chromosomes (normal) 2 children: 1 normal & 1 abnormal chromosome (carriers, no disease) 1 child: 2 abnormal chromosomes (+ disease) EACH child: 1 in 4 chance inheriting disorder & 50:50 chance being carrier. Examples: Cystic fibrosis; sickle cell; Albinism; TaySachs, tendency for venous thrombosis. X-linked Inheritance: affects genes on X chromosome X-linked recessive: No father to son transmission. Males with X-linked disorder always give X chromosome to daughters. Daughters are carriers. X-linked recessive genes expressed in females if 2 copies of gene (on each X chromosome). Y chromosome has no genes. In males, need only 1 copy of X-linked recessive gene for disorder to be expressed. Dominant in expression. Males never carriers. Examples: Hemophilia A; color blindness; Duchenne Muscular Dystrophy; Fragile X-linked mental retardation [~290 conditions exist] X-linked dominant: rare. Trait never passed from father to son. All daughters of an affected male and normal female affected. All sons of an affected male and normal female are normal. Males receive gene from mother; usually more severely affected than females. Trait may be lethal in males. No carriers. Examples: Coffin-Lowry syndrome & Familial rickets. Chromosomal Deviations – Congenital Deviation: either in # or structure of chromosome. Structural defect can be d/t loss, addition, rearrangement of genes on chromosome or exchange of genes between chromosomes. Occurs during meiosis. Deviations in # of chromosomes involve either gain or loss of entire chromosome during cell division. Monosomy – lacks chromosome; incompatible w. life. Ex. Turner’s syndrome (one X) Trisomy – extra chromosome Cont. Most common chromosomal disorder: Trisomy 21 aka Down’s Syndrome [95%] Extra chromosome = # 21. Trisomy 13; lower survival rate. Nondisjunction: pair chromosomes don’t separate [Down’s] Translocation: 2 or more chromosomes rearrange during meiosis. Too much/too little chromosomal material is received. Assoc. w. advanced maternal age [AMA] Multifactorial Inheritance Disorders genes & environment interact to produce (often) “Isolated” birth defect. Can be mild to severe no inheritance pattern but higher risk of recurrence observed in certain families. Examples: risk for spina bifida ↓ with ↑ levels of folic acid in prenatal period. Rate of HD ^ in moms with hx IDDM. ^ FAS with ^ maternal alcohol intake. ^ rate cleft lip/palate (in-breeding occurs) Environmental risks include nutrition, diseases. Detection of Genetic Disorders Preconception Screening Family Hx: determine disease & birth defect patterns. Take thorough family hx – photos. Prenatal Testing > 40 years recommended Carrier testing -certain ethnic groups ^ incidence diseases: Tay-Sachs, Sickle cell, Cystic Fibrosis Statistics: Risk for Trisomy 21 [Down’s] Age 20-24 = 1/1400 births Age 35 = 1/400; Age 40 = 1/100 Age 45 = 1/25; Age 49 = 1/12 Post Delivery: Biochemical Tests: PKU [NYS mandate]; tests ~ 50 genetic and congenital disorders {CF, sickle cell, PKU, congenital hypothyroidism} Newborn Hearing Screen - congenital hearing loss Cytologic Studies: DNA studies [karotype] Dermatoglyphics: study of hand; simian crease in Down syndrome Role of Nurse: offer support & allow to verbalize feelings; don’t offer “stories” of other pts. Don’t offer false hope; OK to verify feelings. Ethical dilemma's may exist. Non-judgmental approach.