Transcript Female Genitourinary System

Female Genitourinary System
External:
Mons
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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.
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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
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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
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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.
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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
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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
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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)
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Genetic disorder can be classified as either
congenital or hereditary
 Congenital : Present @ birth. Occurs @
conception. Can involve abnormal chromosome #,
structure, or multifactorial (genes & environment )
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Ex. Vent.septal defect, hypospadius, cleft lip & palate.
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Hereditary: Predetermined by family hx.
Transferred from parent to child: Sickle cell
disease, & cystic fibrosis.
Some Currently Available DNA-Based
Gene Tests
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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.
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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.
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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.
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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.
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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?
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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.
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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]
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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
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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.
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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]
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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.