patho test 3

Male Reproductive System Disorders: Comprehensive Study Notes

Congenital Anomalies of Penis and Urethra

Micropenis

Definition: Abnormally small penis size
Diagnostic Criteria:
- Newborn normal range: 2.0 to 3.5 cm
- Micropenis: Less than 1.9 cm
- Measured by stretched penile length

Urethral Structural Abnormalities

Urethral Valves
- Thin mucosal membrane obstructing urinary flow
- Prevents normal urination in children
Urethrorectal Fistulas
- Caused by incomplete urorectal septum development
- Creates abnormal communication between rectum and urogenital tract

Meatal Position Disorders

Hypospadias
- Urethral opening located on ventral (underside) penis surface
- Can extend to perineum
Epispadias
- Urethral opening on dorsal (top) penis surface
- Located proximal to glans

Acquired Penis and Urethral Disorders

Sexual and Functional Disorders

Priapism
- Painful, persistent erection
- Requires immediate medical attention
Phimosis and Paraphimosis
- Phimosis: Inability to retract foreskin
- Paraphimosis: Foreskin trapped behind glans
Peyronie Disease
- Fibrous plaque formation on corpora cavernosa
- Causes penile curvature

Sexual Performance Issues

Erectile Dysfunction
- Inability to achieve/maintain sufficient erection
- Multiple potential underlying causes
Premature Ejaculation
- Ejaculation within 1 minute of penetration
- Consistent pattern of rapid climax

Scrotum and Testicular Disorders

Congenital Conditions

Cryptorchidism
- "Hidden testis"
- Testicle located outside normal scrotal position

Acquired Testicular Disorders

Hypogonadism
- Androgen deficiency in aging males
- Primary testicular failure
Fluid-Related Conditions
- Hydrocele: Fluid surrounding testicle
- Spermatocele: Painless sperm-containing cysts
- Varicocele: Abnormal venous dilation

Critical Conditions

Testicular Torsion
- Spermatic cord twisting
- Compromises blood supply
- Potential testicular infarction

Male Fertility and Reproductive Health

Fertility Statistics

15% of couples unable to conceive after 1 year
Male factors:
- Solely responsible in 20% of cases
- Contributory in 30-40% of infertility cases

Infectious Conditions

Epididymitis
- Testicular inflammation
Fournier Gangrene
- Rare but severe gangrenous scrotal necrosis

Prostate Disorders

Benign Prostatic Hyperplasia (BPH)

Glandular hyperplasia around prostatic urethra
Potential progression to complete urinary obstruction

Prostatitis Types

Acute bacterial
Chronic bacterial
Chronic abacterial
Asymptomatic inflammatory

Prostate Cancer

Characteristics:
- Unknown exact cause
- Classified by tumor cell structure
- Often detected as prostate enlargement
Treatment Options:
- Surgical resection
- Radiation therapy
- Hormone therapy
- Individualized based on:
  - Disease grade
  - Disease stage
  - Patient's age
  - Overall health
  - Life expectancy

Neoplastic Considerations

Penile Neoplasms

Rare in United States
More common in uncircumcised males
Predominantly squamous cell carcinoma

Testicular Neoplasms

Peak incidence: Late adolescence to early adulthood
Most common solid tumors in males aged 20-34

Female Reproductive Health: Comprehensive Study Notes

Menstrual Disorders

Amenorrhea

Definition: Absence of menstruation in females 16+ years old
Key Characteristics:
- Missed three or more consecutive periods
- Classified into two types:
  1. Primary amenorrhea
  2. Secondary amenorrhea

Abnormal Uterine Bleeding Patterns

Types of Irregular Bleeding:
- Intermenstrual bleeding
- Deficient menstrual flow
- Infrequent menstrual bleeding
- Frequent menstrual bleeding
- Heavy menstrual bleeding

Dysmenorrhea

Definition: Painful menstruation limiting normal activities
Key Characteristics:
- Affects women across reproductive years
- Symptoms typically decrease with age
- Classified as:
  1. Primary dysmenorrhea
  2. Secondary dysmenorrhea

Uterine Positioning Disorders

Uterine Prolapse

Definition: Sinking of uterus from normal position
Classification Levels:
- First degree
- Second degree
- Third degree

Pelvic Support Alterations

Cystocele:
- Bladder protrusion into anterior vagina
- Occurs at weakened vaginal musculature
Rectocele:
- Rectal wall protrusion into posterior vagina
- Occurs at weakened vaginal musculature

Reproductive Tract Infections

Pelvic Inflammatory Disease (PID)

Characteristics:
- Acute, subacute, recurrent, or chronic infection
- Involves oviducts, ovaries, and adjacent reproductive organs

Other Inflammatory Conditions

Vulvovaginitis:
- Inflammation of vulva and vagina
Bartholinitis:
- Inflammation of Bartholin glands

Benign Reproductive Tract Growths

Uterine Leiomyomas

Also known as: Myomas or fibroids
Most common uterine growths

Ovarian Conditions

Ovarian Cysts:
- Fluid or semisolid sacs on ovary
- Includes Polycystic Ovarian Syndrome (PCOS)

Endometriosis

Definition: Endometrial tissue outside uterine cavity

Female Genital Cancer

Cervical Cancer

Detection: Early stages identified via Pap test
Primary Cause: Specific HPV types

Endometrial Cancer

Location: Uterine endometrial lining
Prevalence: Equal frequency in postmenopausal women

Ovarian Cancer

Characteristics:
- Leading cause of genital cancer death
- Peak incidence: 60-80 years old
- High mortality rate

Rare Genital Cancers

Vaginal Cancer:
- Rare occurrence
- Peak incidence: mid-60s
Vulvar Cancer:
- Rare occurrence
- Peak incidence: mid-60s

Pregnancy Disorders

Pregnancy-Induced Hypertension

Also known as: Toxemia, Preeclampsia
Key Features:
- Rapid arterial blood pressure rise
- Significant protein loss in urine

Hyperemesis Gravidarum

Definition: Excessive pregnancy vomiting
Potential Complications:
- Severe dehydration
- Electrolyte imbalance
- Potential organ damage
- Risk of fatal outcomes if uncontrolled

Placental Complications

Placenta Previa:
- Abnormal placental implantation over cervical os
- Partial or complete coverage
Abruptio Placentae:
- Premature placental separation
- Potential for overt or concealed hemorrhage

Spontaneous Abortion

Also known as: Miscarriage
Statistical Insights:
- Estimated 50% of pregnancies end in spontaneous abortion
- 15-20% rate among confirmed pregnancies

Breast Disorders

Reactive-Inflammatory Conditions

Mammary Duct Ectasia:
- Chronic inflammatory process in subareolar ducts
Breast Abscess:
- Recurring, non-lactational infections
Fat Necrosis:
- Fat tissue death after breast trauma

Benign Breast Disorders

Fibrocystic Changes:
- Palpable breast masses fluctuating with menstrual cycle
- Potential pain or tenderness

Breast Cancer

Epidemiological Characteristics:
- Most common cancer in women (25-75 years)
- Second leading cause of cancer mortality
- Half of tumors in upper outer breast quadrant

Sexually Transmitted Infections (STIs) Study Notes

Epidemiology and Overview

Prevalence: Approximately 20 million new infections annually in the US
Most Affected Population: Individuals aged 15-25 years
Key Characteristic: Preventable and treatable infections

Infection Categories and Transmission

Urogenital Infections

Urethritis, Cervicitis, Salpingitis, and Pelvic Inflammatory Disease

Primary Causes:
- Gonorrhea (Neisseria gonorrhoeae)
- Chlamydia (Chlamydia trachomatis)
Transmission Method: Direct contact with infected mucous membranes
Treatment: Antibiotic therapy

Gonococcal Infection Characteristics

Pathogen: Gram-negative diplococcus (N. gonorrhoeae)
Female Symptoms:
- Often asymptomatic
- Potential symptoms:
  - Purulent vaginal discharge
  - Dysuria
  - Abnormal vaginal bleeding
Male Symptoms:
- Urethritis
- Dysuria
- Purulent urethral discharge
- Redness and swelling at infection site

Chlamydia Characteristics

Significance: Most frequently reported infectious disease in the US
Symptom Severity: Generally less severe than gonorrhea
Long-term Consequences:
- Potential cause of infertility
- Risk of ectopic pregnancy

Systemic Infections

Syphilis

Causative Agent: Treponema pallidum
Infection Stages:
- Incubation
- Primary stage
- Secondary stage
- Latency
- Late syphilis
Primary Stage Characteristics:
- Chancre formation at initial entry point
- Potential locations:
  - Genitalia
  - Anus
  - Fingers
  - Lips
  - Tongue
  - Nipples
  - Tonsils
  - Eyelids
- Spontaneous resolution if untreated

Lymphogranuloma Venereum (LGV)

Causative Agent: Chlamydia strains
Characteristics:
- Highly contagious
- More common in males
- Systemic infection spreading via lymphatic system
Treatment: Doxycycline

Herpesvirus Infections

Types: HSV-1 and HSV-2
Key Features:
- Sexually transmissible
- Persistent viral presence
- Potential transmission during vaginal birth

Localized Lesion Infections

Ulcerative Lesions

Chancroid:
- Causative Agent: Haemophilus ducreyi
- Increases HIV infection risk
- Treatable with antibiotics
Granuloma Inguinale:
- Causative Agent: Calymmatobacterium granulomatis
- Alternative Name: Donovanosis

Nonulcerative Lesions

Molluscum Contagiosum:
- Viral skin disease (poxvirus)
- Two transmission forms:
  - Childhood: Skin-to-skin contact
  - Young adults: Sexual contact
Human Papillomavirus (HPV):
- Characteristics:
  - ~100 identified types
  - 40+ types infect genital region
  - Also known as genital warts
- Significant Risk: Persistent infection linked to cervical cancer

Enteric Infections

Transmission: Fecal-oral contact
Potential Pathogens:
- Giardia
- Campylobacter
- Shigella
- Amebic dysentery agents
Symptom Spectrum: Asymptomatic to marked enteritis/proctitis

Diagnostic and Prevention Strategies

Regular screening
Safe sexual practices
Prompt antibiotic treatment
Vaccination where applicable (e.g., HPV)

Genetic and Developmental Disorders: Comprehensive Study Notes

Overview of Genetic Disorders

Fundamental Concepts

Congenital Disorders
- Present at birth
- Can be caused by:
  - Genetic factors
  - Environmental influences
  - Combination of both
Inheritance Principles (Inspired by Gregor Mendel)
- Phenotype: Outwardly visible physical and biochemical characteristics
- Genotype: Unique genetic makeup

Human Genetic Structure

Chromosome Composition

Total Chromosomes: 46 (diploid)
- 23 pairs
- One chromosome from each parent per pair

Chromosome Types

Autosomes: 22 pairs
- Homologous chromosomes
- Identical gene sequences and positions
Sex Chromosomes: 1 pair
- Females: Two X chromosomes
- Males: One X and One Y chromosome

Genetic Terminology

Key Genetic Concepts

Gene Loci
- Specific chromosome positions coding for gene products
- Described by position on chromosome arms
Alleles
- Different gene forms
- Two alleles per gene (one from each parent)
- Types:
  - Homozygous: Identical alleles
  - Heterozygous: Different alleles

Inheritance Patterns

Inheritance Types

Dominant/Recessive Inheritance
Monogenic Disorders
Polygenic Disorders
Multifactorial Disorders

Genetic Mutations

Mutation Characteristics

Definition: Permanent DNA structural change
Causes:
- Spontaneous occurrence
- Exposure to mutagens

Mutation Types

Reading Frame Mutations
- Alter codon sequence
- Impact amino acid production

Chromosomal Abnormalities

Numerical Abnormalities

Aneuploidy
- Caused by:
  - Nondisjunction
  - Anaphase lag

Structural Abnormalities

Types:
- Translocations
- Inversions
- Deletions
- Duplications

Notable Chromosome Disorders

Autosomal Disorders

Trisomy 21 (Down Syndrome)
Trisomy 18 (Edwards Syndrome)
Trisomy 13 (Patau Syndrome)
Cri du Chat Syndrome

Sex Chromosome Disorders

Klinefelter Syndrome
Turner Syndrome
Multiple X Females
Double Y Males

Specific Genetic Disorders

Mendelian Single-Gene Disorders

Autosomal Dominant

Marfan Syndrome
Huntington Disease

Autosomal Recessive

Albinism
Phenylketonuria
Cystic Fibrosis

Sex-Linked Disorders

Hemophilia A

Non-Mendelian Disorders

Expanded Triplet Repeat Mutations
Mitochondrial DNA Mutations
Genomic Imprinting Disorders

Environmental Influences

Teratogenic Factors

Vulnerable Fetal Period: 3rd-9th weeks of gestation
Potential Agents:
- Chemicals
- Drugs
- Infectious agents
- Radiation

Developmental Risks

Low birth weight
Placental oxygen supply interruption
Birth injuries

Diagnosis and Intervention

Genetic Counseling Indicators

Maternal age ≥ 35
Previous chromosomal disorder
Family genetic history
Known carrier status

Advanced Interventions

Gene Therapy
- Replacing defective genes
- Utilizing recombinant DNA technology

Meiosis Overview

flowchart TD A[Diploid Cell] --> B[DNA Replication] B --> C[Meiosis I] C --> D[Meiosis II] D --> E[Four Haploid Cells]

Key Takeaways

Genetic disorders are complex
Multiple factors influence genetic expression
Advanced diagnostic and therapeutic techniques continue to evolve

Introduction

 STIs are very common even though they

are preventable and treatable

➢ About 20 million new infections each year in

the US

 Most prevalent in people aged 15-25 years

Organisms that cause STIs

Urethritis, Cervicitis, Salpingitis,

and Pelvic Inflammatory Disease

(1 of 3)

 Urethritis, cervicitis, salpingitis, and pelvic

inflammatory disease commonly result

from gonorrheal or chlamydial infection

 Transmission is usually by direct contact

with infected mucous membranes

 Treatment for gonorrhea and chlamydia

includes antibiotic therapy

Urethritis, Cervicitis, Salpingitis,

and Pelvic Inflammatory Disease

(2 of 3)

 Gonococcal infection

➢ Associated with the gram-negative diplococcus

N. gonorrheae

➢ Women: usually asymptomatic, may produce

purulent vaginal discharge, dysuria, and

abnormal vaginal bleeding

➢ Men: symptoms of urethritis, including dysuria

and a purulent urethral discharge accompanied

by redness and swelling at the site of infection

Urethritis, Cervicitis, Salpingitis,

and Pelvic Inflammatory Disease

(3 of 3)

 Nongonococcal infection—Chlamydia

trachomatis

➢ Most frequently reported infectious disease in

the United States

➢ Symptoms of infection generally less severe

than Gonorrhea

➢ Upper reproductive tract infection, whether

symptomatic or subclinical, is an important

cause of infertility and ectopic pregnancy

Diseases With Systemic

Involvement (1 of 3)

 Syphilis

➢ Systemic infection of the vascular system caused by

Treponema pallidum

➢ Five distinct stages: incubation, primary and secondary

stages, latency, and late syphilis

➢ Incubation: can invade and multiply in any organ system

➢ Primary phase: chancre forms at the original spirochete

portal of entry

• Women: chancre may remain unnoticed if it occurs on the cervix

or in the vagina

• Men: chancre may form on the genitalia

• Chancres may erupt on the anus, fingers, lips, tongue, nipples,

tonsils, or eyelids

• They will spontaneously resolve if left untreated

Diseases With Systemic

Involvement (2 of 3)

 Lymphogranuloma venereum (LGV)

➢ Highly contagious systemic infection caused by

a number of closely related strains of

Chlamydia.

➢ Develops more often in males than in females

➢ Initial lesion forms and systemic disease

occurs after dissemination via the lymphatic

system

➢ Treated with doxycycline

Diseases With Systemic

Involvement (3 of 3)

 Herpesvirus infections

➢ Two types of herpes simplex virus (HSV)—type

1 and type 2—may be sexually transmitted

➢ Virus remains in the body and can recur

➢ May be transmitted to infant during vaginal

birth

Diseases With Localized

Lesions (1 of 3)

 Ulcerative lesions

➢ Chancroid

• Ulcerative, infectious disease of the genital tract

caused by the sexually transmitted anaerobic

bacillus Haemophilus ducreyi

• Can increase risk of HIV infection

• Treated with antibiotics

➢ Granuloma inguinale

• Caused by Calymmatobacterium granulomatis

• Also referred to as a Donovan body and the disease

as donovanosis

Diseases With Localized

Lesions (2 of 3)

 Nonulcerative lesions

➢ Molluscum contagiosum

• Viral skin disease caused by a member of the

poxvirus family

• Two forms

• One affects children and is transmitted by skin-to-skin

contact and indirect contact

• One affects young adults and is transmitted during

sexual contact

Diseases With Localized

Lesions (3 of 3)

 Nonulcerative lesions

➢ Human papilloma virus infections

• Epithelial lesions of the anogenital region

• About 100 types of HPV have been identified

• More than 40 types can infect the genital region

• Also called genital warts or condylomata acuminata

• Persistent HPV infection is an important risk factor

for cervical cancer

Enteric Infections

 Enteric pathogens

➢ May be transmitted sexually among individuals

who engage in direct or indirect fecal-oral

contact

➢ Organisms include Giardia, Campylobacter,

Shigella, and the agents causing amebic

dysentery

➢ May be asymptomatic or have marked

symptoms of enteritis or proctitis

Menstrual Disorders (1 of 3)

 Amenorrhea

➢ Absence or suppression of menstruation in a

female age 16 years or older

➢ Occurs if a woman misses three or more

consecutive periods.

➢ Categorized as either primary or secondary

Menstrual Disorders (2 of 3)

 Abnormal uterine bleeding patterns

➢ Irregular or excessive bleeding from the uterus

➢ Types include

• Intermenstrual bleeding

• Deficient menstrual flow

• Infrequent menstrual bleeding

• Frequent menstrual bleeding

• Heavy menstrual bleeding

Menstrual Disorders (3 of 3)

 Dysmenorrhea

➢ Menstruation painful enough to limit normal

activity or to cause a woman to seek health

care

➢ Widespread phenomenon that affects many

women across the reproductive years

➢ Symptoms tend to decrease with age

➢ Classified as primary or secondary

Alterations in Uterine Position

and Pelvic Support (1 of 2)

 Uterine prolapse

➢ Sinking of the uterus from its normal position

➢ Classified as first, second or third degree

 Retrodisplacement of the uterus

➢ Body of the uterus is displaced from its usual

location overlying the bladder to a position in

the posterior of the pelvis

Uterine Prolapse

Alterations in Uterine Position

and Pelvic Support (2 of 2)

 Cystocele

➢ Protrusion of a portion of the urinary bladder

into the anterior of the vagina at a weakened

part of the vaginal musculature

 Rectocele

➢ Protrusion of the anterior rectal wall into the

posterior of the vagina at a weakened part of

the vaginal musculature

Inflammation and Infection of

the Female Reproductive Tract

 Pelvic inflammatory disease

➢ Any acute, subacute, recurrent, or chronic

infection of the oviducts and ovaries with

involvement of the adjacent reproductive

organs

 Vulvovaginitis

➢ Inflammation of the vulva (vulvitis) and vagina

(vaginitis).

 Bartholinitis

➢ Inflammation of the Bartholin glands

Benign Growths and Aberrant Tissue

of the Female Reproductive Tract

 Uterine leiomyomas

➢ Also called myomas or fibroids

➢ Most common uterine growths

 Ovarian cysts

➢ Sacs on an ovary that contain fluid or semisolid

material

➢ Polycystic ovarian syndrome

 Endometriosis

➢ Presence of endometrial tissue outside the

lining of the uterine cavity

Cancer of the Female Genital

Structures (1 of 3)

 Cancer of the cervix

➢ Neoplasm that can be detected in the early,

curable stage by the Papanicolaou (Pap) test

➢ Main cause: certain HPV types

 Endometrial cancer

➢ Cancer of the endometrial lining of the uterus

➢ Less common than cervical cancer in young

women, but both types of cancer occur with

equal frequency in postmenopausal women

Cancer of the Female Genital

Structures (2 of 3)

 Ovarian cancer

➢ Has replaced cervical cancer as the leading

cause of death from genital cancer

➢ Peak incidence: 60-80 years of age

➢ High mortality rate

Cancer of the Female Genital

Structures (3 of 3)

 Vaginal cancer

➢ Rare, can occur at any age

➢ Peak incidence: mid-60s

 Cancer of the vulva

➢ Rare, can occur at any age

➢ Peak incidence: mid-60s

Disorders of Pregnancy (1 of 4)

 Pregnancy-induced hypertension

➢ Also called toxemia and preeclampsia-

eclampsia

➢ Characterized by a rapid rise in arterial blood

pressure associated with the loss of large

amounts of protein in the urine

Disorders of Pregnancy (2 of 4)

 Hyperemesis gravidarum

➢ Excessive vomiting in pregnant women

➢ Severe dehydration and electrolyte imbalance,

hepatic and renal damage, encephalopathy,

and ultimately death may ensue if the vomiting

cannot be controlled

Disorders of Pregnancy (3 of 4)

 Placenta previa and abruptio placentae

➢ Placenta previa

• Placenta is implanted abnormally over the internal

cervical os

• May be partial or cover the entire cervical os

➢ Abruptio placentae

• Premature separation of the placenta

• May be partial or complete

• May cause overt or concealed hemorrhage

Disorders of Pregnancy (4 of 4)

 Spontaneous abortion

➢ Also called miscarriage by laypersons

➢ Expulsion of the products of conception from

the uterus before the period of fetal viability

➢ It is estimated that 50% of all pregnancies end

in spontaneous abortion

➢ Among women who know they are pregnant,

the rate of spontaneous abortion is 15% to

20%

Disorders of the Breast (1 of 4)

 Reactive-inflammatory breast disorders

➢ Mammary duct ectasia

• Chronic inflammatory process occurring in and

around the terminal subareolar ducts of the breast

➢ Breast abscess

• Nonlactational breast abscesses are most often a

recurring problem and usually affect persons with

conditions that predispose to infections

Disorders of the Breast (2 of 4)

 Reactive-inflammatory breast disorders

➢ Fat necrosis

• Death of fat tissue after trauma or injury to the

breast

➢ Reactions to foreign material

• Controversy surrounds the use of silicone breast

implants because some side effects suggestive of

an immune system response, have been reported

• Persons with silicone implants who sustain blunt

trauma to the chest are at risk for rupture of the

implant, with leakage into the surrounding tissues

Disorders of the Breast (3 of 4)

 Benign breast disorders

➢ Fibrocystic breast changes

• Condition in which the presence of palpable breast

masses fluctuates with the menstrual cycle and may

be associated with pain or tenderness

➢ Specific benign neoplasms

• May occur at any time from childhood to old age

• Freely moveable, encapsulated masses that are

sharply delineated from the surrounding breast

tissue

Disorders of the Breast (4 of 4)

 Malignant disorder of the breast

➢ Cancer of the breast

• Most common form of cancer in women between

the ages of 25 and 75 years

• Second leading cause of cancer mortality in women

• Less common in men

• Half of malignant tumors occur in the upper outer

quadrant of the breast

Disorders of the Penis and

Male Urethra (2 of 7)

 Congenital anomalies

➢ Urethral valves

• Mucosal folds that resemble thin membranes and

cause obstruction when a child attempts to void

➢ Urethrorectal and vesicourethral fistulas

• Failure of the urorectal septum to develop

completely leads to persistent communication

between the rectum posteriorly and the urogenital

tract anteriorly

Disorders of the Penis and

Male Urethra (3 of 7)

 Congenital anomalies

➢ Hypospadias

• Urethral meatus is located on the ventral

undersurface of the penis or on the perineum

➢ Epispadias

• Urethra opens on the dorsal aspect of the penis at a

point proximal to the glans

Epispadias and Hypospadias

Disorders of the Penis and

Male Urethra (4 of 7)

 Acquired disorders

➢ Priapism

• Painful, persistent erection

➢ Phimosis and paraphimosis

• Phimosis

• Uncircumcised foreskin cannot be retracted over the

glans of the penis, usually due to inflammation and

infection from poor hygiene

• Paraphimosis

• Foreskin that has been retracted over the glans up

onto the shaft of the penis cannot be replaced in its

normal position

Disorders of the Penis and

Male Urethra (5 of 7)

 Acquired disorders

➢ Peyronie disease

• Formation of palpable, fibrous plaque on the surface

of the corpora cavernosa

➢ Urethral strictures

• Areas of fibrotic narrowing of the urethra usually

composed of scar tissue

Disorders of the Penis and

Male Urethra (6 of 7)

 Acquired disorders

➢ Erectile dysfunction

• Inability to achieve or maintain an erection sufficient

for satisfactory sexual performance

➢ Premature ejaculation

• Ejaculation that always or almost always occurs

before or within 1 minute of vaginal penetration

• Inability to delay ejaculation upon all or almost all

vaginal penetrations

Disorders of the Penis and

Male Urethra (7 of 7)

 Infectious disorders

➢ Sexually transmitted infections (STIs)

 Neoplastic disorders

➢ Neoplasms of the penis

• Rare in the United States, particularly in

circumcised males

• Majority: squamous cell carcinoma

Disorders of the Scrotum and

Testes (1 of 5)

 Congenital disorders

➢ Cryptorchidism

• “Hidden testis”

• Any testis that occupies an extrascrotal position

 Acquired disorders

➢ Hypogonadism

• Androgen deficiency in the aging male (ADAM)

• Andropause

• Most common etiology: primary testicular failure

Disorders of the Scrotum and

Testes (2 of 5)

 Acquired disorders

➢ Hydrocele

• Fluid collection surrounding the testicle or spermatic

cord and contained within the tunica or processus

vaginalis

➢ Spermatocele

• Painless cystic masses containing sperm

➢ Varicocele

• Abnormal dilation of venous structures in the

scrotum that drain the testes

Disorders of the Scrotum and

Testes (3 of 5)

 Acquired disorders

➢ Testicular torsion

• Twisting of the spermatic cord with subsequent

compromise of the testicular vascular supply and

testicular ischemia, followed by infarction

➢ Male infertility

• Approximately 15% of couples are unable to

conceive after 1 year of unprotected intercourse

• Male factor

• Solely responsible in about 20% of infertility cases

• Contributory in 30% to 40% of infertility cases

Disorders of the Scrotum and

Testes (4 of 5)

 Infectious disorders

➢ Epididymitis

• Inflammation of the testis

➢ Fournier gangrene

• Severe but rare condition involving gangrenous

necrosis of the scrotum

Disorders of the Scrotum and

Testes (5 of 5)

 Neoplastic disorders

➢ Neoplasms of the testis

• Rare, with peak incidence in late adolescence to

early adulthood

• Most common solid tumors of U.S. men ages 20 to

34 years

Disorders of the Prostate

(1 of 4)

 Benign prostatic hyperplasia

➢ Etiology and pathogenesis

• Process involves hyperplasia of the glands

surrounding the prostatic urethra

➢ Clinical manifestations

• Symptoms of obstruction

• May progress to complete obstruction and urinary

retention

➢ Treatment

• Medications, microwave therapy, needle ablation,

and some other forms of treatment to decrease the

tissue squeezing the urethra closed, surgery, laser

therapy

Disorders of the Prostate

(2 of 4)

 Prostatitis

➢ Etiology and pathogenesis

• Inflammation of the prostate

• Categories

• Acute bacterial prostatitis

• Chronic bacterial prostatitis

• Chronic abacterial prostatitis

• Asymptomatic inflammatory prostatitis

Disorders of the Prostate

(3 of 4)

 Prostatitis

➢ Clinical manifestations, diagnosis, and

treatment

• Inflammation of the prostate, or prostatitis, is

characterized by low back pain, urinary frequency,

urgency, and dysuria.

• Fever and chills may also be present with acute

bacterial prostatitis. Escherichia coli is the most

commonly associated organism.

• Prostatitis may also occur in the absence of

infection.

Disorders of the Prostate

(4 of 4)

 Prostate cancer

➢ Etiology and pathogenesis

• Cause is unknown, classification based on structure

tumor cells and pattern of proliferation

➢ Diagnosis and clinical manifestations

• Prostate cancer is usually detected as a lump or

enlargement of the prostate gland.

➢ Treatment

• Surgical resection, radiation therapy, hormone

therapy

• Treatment depends on disease grade and stage

and the individual’s age, health, and life expectancy

Genetic and Developmental

Disorders

 Congenital disorders: present at birth

➢ Genetic or environmental or both

 Congenital malformations

➢ Associated with structural defects caused by

errors in fetal development

➢ Frequently genetic cause; sometimes

environmental; mostly unknown

 Some inherited genetic disorders do not

become apparent until later in childhood or

adulthood (not congenital)

Principles of Inheritance

(1 of 7)

 Gregor Mendel

➢ First noticed predictable transmission of traits

from parent to offspring

 Phenotype

➢ Outwardly apparent physical and biochemical

attributes

 Genotype

➢ Unique genetic makeup

Overview of Meiosis

➢ Meiosis is the form of cell division that

produces unique haploid sex cells from diploid

cells

1) DNA replication

2) Meiosis I

3) Meiosis II

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Principles of Inheritance

(2 of 7)

 Human DNA

➢ Is organized into 46 chromosomes which are

diploid, which means they occur as 23 pairs

➢ One member of each chromosome pair is

inherited from the mother and the other from

the father

➢ DNA is a double helix, whereby each strand is

linked together by a pair of bases

• Adenine, cytosine, guanine and thymine

Principles of Inheritance

(3 of 7)

 Chromatids

➢Two identical linear chromosome units

(resembling an x) that separate during meiosis

 Centromere

➢Point at the middle of the X at which the two

sister chromatids are united

Principles of Inheritance

(4 of 7)

 23 pairs of chromosomes

➢ 22 pairs: autosomes (homologous), which

have the same genes sequence and position,

and same chromosome length

➢ Remaining pair: sex chromosomes

• Female: 2 X chromosomes (X from each parent)

• Male: 1 X and 1 Y chromosome (X from mother and

Y from father)

Principles of Inheritance

(5 of 7)

 A person’s genotype is the result of 23

maternal and 23 paternal chromosomes

uniting at conception

 Meiosis

➢ A special form of cell division that results in

germ cells that are haploid (have half of the

normal number of chromosomes)

➢ Involves two divisions of chromosomal DNA.

➢ Has two phases, resulting in four cells, each

having only 23 chromosomes.

Meiosis

Principles of Inheritance

(6 of 7)

 Genetic traits

➢ Gene loci

• Genes that code for a particular gene product are

located at a particular position (locus) on the

chromosome.

• Gene loci are described by their position on the long

arm or the short arm of the chromatid.

➢ Genes come in several forms, called alleles.

• Normally, a person has two alleles for each gene,

one received from each parent.

• If both alleles are functionally identical, the individual

is said to be homozygous for that gene.

• If two different alleles are present, the individual is

heterozygous.

Principles of Inheritance

(7 of 7)

 Alleles

➢ Punnett square

➢ Dominant, recessive, codominant

➢ Monogenic, polygenic, multifactorial

DNA Mutation and Repair

 Mutation

➢ Is a permanent change in DNA structure

➢ Can occur spontaneously

➢ Can be caused by exposure to mutagens

➢ Types: mutations that do or do not change the

“reading frame” of the gene

• Reading frame of the gene is a way of dividing the

DNA into a sequence of three nucleotides called a

codon; the codons are translated to amino acids

which produce the gene’s product

 Low mutation rates depend on efficient

DNA repair mechanisms

Genetic Disorders

 Genetic disorders may be apparent at birth

or may not be evident until later in life.

 Types

➢ Chromosomal aberrations

➢ Mendelian single-gene disorders

➢ Polygenic or multifactorial disorders

➢ Single-gene defects that do not follow

mendelian patterns of inheritance

Chromosomal Abnormalities

(1 of 2)

 Aberrant number of chromosomes

➢ Aneuploidy: caused by nondisjunction or anaphase

lag resulting in monosomy or polysomy

 Abnormal chromosome structure

➢ Types include translocations, inversions, deletions,

and duplications

 Examples of autosomal chromosome disorders

➢ Trisomy 21 (Down Syndrome)

➢ Trisomy 18 (Edwards Syndrome) and Trisomy 13

(Patau Syndrome)

➢ Cri du Chat Syndrome

Non-disjunction vs Anaphase Lag

Chromosomal Abnormalities

(2 of 2)

 Examples of sex chromosome disorders

➢ Klinefelter syndrome

➢ Turner syndrome

➢ Multiple X females and double Y males

Mendelian Single-Gene Disorders

 Autosomal-dominant disorders

➢ Marfan syndrome

➢ Huntington disease

 Autosomal-recessive disorders

➢ Albinism

➢ Phenylketonuria

➢ Cystic fibrosis

 Sex-linked (X-linked) disorders

➢ Hemophilia A

Non-Mendelian Single-Gene

Disorders (1 of 2)

 Categories

➢ Disorders caused by expanded triplet repeat

mutations, such as fragile X syndrome

➢ Disorders attributable to mitochondrial DNA

mutations

➢ Disorders associated with genomic imprinting.

Non-Mendelian Single-Gene

Disorders (2 of 2)

 Anticipation

➢ Most commonly seen in trinucleotide repeat

disorders

 Mitochondrial gene mutations

➢ Mitochondrial DNA is much more prone to

mutation than nuclear DNA

 Genomic imprinting

➢ Process whereby maternal and paternal genes

are marked differentially by chemical tags that

alter gene expression, such as silencing the

gene

Polygenic and Multifactorial

Disorders

 Polygenic disorders

➢ Develop in response to more than one gene

 Multifactorial disorders

➢ Result from the interaction of multiple genes

and environmental influences

➢ Examples: high blood pressure, cancer, and

diabetes are multifactorial

Environmentally Induced

Congenital Disorders

 Periods of fetal vulnerability

➢ Between the third and ninth weeks of gestation

 Teratogenic agents

➢ Environmental factors that adversely affect the

developing fetus

➢ Chemicals and drugs, infectious agents,

radiation

 Other disorders of infancy

➢ Low birth weight or immaturity at birth

➢ Interruption of the placental oxygen supply

➢ Birth injuries

Diagnosis, Counseling, and Gene

Therapy (1 of 2)

 Prenatal diagnosis and counseling

➢ Maternal age of 35 years or greater

➢ History of previously bearing a child with a

chromosomal disorder

➢ Known family history of X-linked disorders

➢ Family history of inborn errors of metabolism

➢ Occurrence of neural tube anomalies in a

previous pregnancy

➢ Awareness that the mother is a known carrier

of a recessive genetic disorder.

Diagnosis, Counseling, and Gene

Therapy (2 of 2)

 Genetic analysis and therapy

➢ Treatment of genetic disease by replacing a

defective gene with a normal, healthy gene

 Recombinant DNA technology

➢ Gene therapy is possible because of the

advances attained in rDNA technology over the

past several decades.