Reproductive and Genetic Disorders

Reproductive Disorders

  • Objectives:
    • Recognize common reproductive conditions in the pediatric population.
    • Differentiate between urgent/emergent conditions and routine findings.
    • Apply nursing interventions for conditions affecting the reproductive system.
    • Demonstrate understanding of how developmental and psychosocial factors influence reproductive health in children and adolescents.

Male Reproductive System

  • Organs:
    • Penis
    • Urethra
    • Scrotum
    • Testicles
    • Bladder
    • Seminal Vesicle
    • Prostate
    • Vas Deferens

Female Reproductive System

  • Organs:
    • Fimbriae
    • Ovary
    • Fallopian Tubes
    • Uterus
    • Endometrium
    • Cervix
    • Vagina

Puberty in Boys: What to Expect

  • Body shape and hair growth changes.
  • Voice cracking.
  • Growth of penis and testicles.
  • Acne (zits).

Puberty in Girls: What to Expect

  • Body shape and hair growth changes.
  • Breast development (bras).
  • Acne (zits).
  • Sweat and body odor.
  • Menstrual periods.

Measures to Support Children in Understanding Sexuality

  • Condom availability programs.
  • Online contraception providers.
  • Mobile health clinics.
  • On-campus STI screening.
  • Providing contraception on-campus.
  • Telehealth services.
  • School-clinic partnerships.

Sexual Intercourse Among Young People in the U.S.

  • Sex is a natural part of being human.
  • 65% of 18-year-olds and 93% of 25-year-olds have had sexual intercourse.

Sexually Transmitted Infections (STIs)

  • The earlier a child engages in sexual behaviors, the more opportunity for STIs.
  • Risky behaviors include not protecting oneself regardless of approach to sexually behaviors.
  • Encourage open dialogue with children and their families.
  • Most common STIs:
    • Syphilis
    • Chlamydia
    • Gonorrhea

Syphilis Overview

  • Caused by the bacterium Treponema pallidum.
  • Called the "Great Imitator" because its symptoms often look like other diseases.
Stages of Syphilis
  • Primary:
    • Timing: ~3 weeks after exposure (10–90 days).
    • Signs & Symptoms: Painless, round sore (chancre) at the site of infection.
    • Contagious: Yes.
    • Key Points: Sore heals in 3–6 weeks, but infection progresses without treatment.
  • Secondary:
    • Timing: Weeks to months after chancre heals.
    • Signs & Symptoms: Skin rash (often on palms/soles), fever, swollen lymph nodes, sore throat, hair loss.
    • Contagious: Yes.
    • Key Points: Symptoms may come and go; infection spreads systemically.
  • Latent:
    • Timing: Can last for years.
    • Signs & Symptoms: No symptoms.
    • Contagious: No (but still infected).
    • Key Points: Only detected by blood test; may stay latent or progress to tertiary stage.
  • Tertiary:
    • Timing: Years after initial infection.
    • Signs & Symptoms: Severe damage to heart, brain, nerves, bones, or eyes.
    • Contagious: No (but highly damaging).
    • Key Points: Occurs in ~15–30% of untreated cases; can be life-threatening.
Syphilis in Pregnancy/Exposed Infant
  • Symptoms in Pregnancy:
    • Can lead to: Stillbirth, Prematurity, Widespread Clinical Manifestations
  • Symptoms in an Exposed Infant:
    • Can Include: Chronic Rhinitis, Nasal Congestion, Enlargement of Liver And Spleen, Rash Development Within 1-2 Weeks of Life

Chlamydia Overview

  • Caused by bacterium C. trachomatis.
  • Most common of STIs.
  • Particularly common among adolescents and young adults (ages 15–24).
  • Individuals may be asymptomatic – this is true for both males and females.
Chlamydia Impact on Newborns
  • A mother with untreated chlamydia can pass the infection to her baby during vaginal delivery.
  • This can result in:
    • Neonatal conjunctivitis (eye infection appearing 5–12 days after birth)
    • Neonatal pneumonia (appearing 1–3 months after birth with a staccato cough and nasal congestion)
  • Prevention includes routine screening in pregnancy and prophylactic eye treatment at birth.

Gonorrhea Overview

  • Caused by the bacterium Neisseria gonorrhoeae.
  • Affects mucous membranes including the genitals, rectum, throat, and eyes.
  • Can infect both men and women, and may be asymptomatic, especially in women.
  • Often associated as a co-infection of C. trachomatis (Chlamydia).
  • Providers typically treat for both infections simultaneously, even if only one is confirmed.
  • Can indicate sexual abuse in children.
Gonorrhea Pediatric Implications
  • Presence of gonorrhea in a child may raise concern for sexual abuse and should be thoroughly investigated per protocol.
  • In newborns, it can be passed from an infected mother during delivery.
  • This can result in neonatal conjunctivitis (ophthalmia neonatorum).
  • If untreated, it can cause blindness — hence the routine use of antibiotic eye prophylaxis at birth.

Abnormal Uterine Bleeding

  • Irregular cycles after menarche are NORMAL.
  • Menstrual cycles are often irregular for the first few months to 3 years after menarche.
  • Abnormal uterine bleeding is the most common gynecological complaint among adolescents.
  • It includes:
    • Heavy bleeding
    • Bleeding between periods
    • Periods that last too long or come too frequently
Cause of AUB in Adolescents
  • Most adolescent AUB is due to anovulation — meaning no egg is released during the menstrual cycle.
  • Without ovulation, hormone levels don’t follow the usual pattern, leading to unstable endometrial shedding.
  • This is most common within 12–18 months of menarche, as the body adjusts to regular ovulatory cycles.

Straddle Injury

  • A straddle injury refers to blunt trauma to the groin or perineal area.
  • Often occurs when a child falls with legs apart onto a hard object — like a bicycle crossbar, monkey bars, or playground equipment.
  • Most common in school-age children.

Vulvovaginitis

  • Vulva and vaginal inflammation.
  • Symptoms may include itching (pruritus), soreness, redness (erythema), painful urination (dysuria), light/thin vaginal discharge.
  • Common is prepubescent girls due to lack of estrogen in labial tissue, tissue is thinner and therefore more susceptible.
  • Causes may include bubble baths, perfumed hygiene products and tight nylon undergarments.
  • Additional causes may be pinworms which are very small worms that spread by fecal-oral route.

Bacterial Vaginosis

  • Overgrowth of bacteria that is naturally found in the vagina.
  • Most common in women of reproductive age.
  • Symptoms include fishy smell, whitish-gray discharge which is usually thin.
  • Often no itching or burning, which helps distinguish it from yeast infections or STIs.
Bacterial Vaginosis Health Risks & Associations
  • While BV is often mild, it increases the risk of:
    • Sexually transmitted infections (STIs)
    • Pelvic inflammatory disease (PID)
    • Preterm labor in pregnant individuals
  • Frequent or recurrent BV may be a marker for HIV infection, as both conditions are linked through changes in vaginal flora and immune function.

Phimosis

  • Phimosis is a condition where the foreskin of the penis cannot be retracted (pulled back) over the glans (head).
  • It’s normal in infants and young children and usually resolves on its own by age 3–7.
Physiologic vs. Pathologic Phimosis
  • Physiologic Phimosis:
    • Normal at birth and during early childhood
    • Foreskin naturally separates from the glans over time
  • Pathologic Phimosis:
    • Occurs due to scarring, infection, or inflammation
    • May result from forceful retraction, poor hygiene, or repeated infections (e.g., balanitis)

Hypospadias

  • Birth defect in boys with the urethra opening is located on the underside of the penis rather than the tip.
  • The urethra can form anywhere from the end of the penis to the scrotum.
  • Requires surgery to correct the flow of urine – age for surgical repair is 6 to 12 months of age.

Epispadias

  • A rare congenital defect where the urethral opening is on the upper (dorsal) surface of the penis in males or near the clitoris in females.
  • May occur alone or with bladder exstrophy.
  • Can result in:
    • Urinary incontinence
    • Difficulty with urinary stream control
    • Abnormal genital appearance

Bladder Exstrophy

  • A more severe congenital anomaly where the bladder is exposed outside of the abdomen through a defect in the lower abdominal wall.
  • Often occurs with epispadias.
  • The bladder mucosa and urethral plate are visible at birth.
  • Associated findings may include:
    • Widened pubic symphysis
    • Abnormal genitalia
    • Inguinal hernias

Cryptorchidism

  • One or both testicles fail to descend into the scrotum at birth.
  • Common in newborn males, especially preterm infants.
  • Most descend spontaneously by 6 months.
  • Risks if untreated:
    • Infertility
    • Testicular cancer
    • Torsion and trauma
  • Treatment: Orchiopexy surgery if testicle hasn't descended by 6–12 months.
  • Nursing Implications:
    • Palpate scrotum during newborn exams
    • Refer to urology if testicle remains undescended after 6 months

Varicocele

  • What it is: Enlargement of the veins within the scrotum (like varicose veins in the leg).
  • Symptoms:
    • Scrotal mass or "bag of worms" appearance
    • Heavy sensation in the scrotum
    • Dull or sharp pain
    • Visible enlarged veins
  • May be linked to infertility in older adolescents
  • Nursing Implication:
    • Usually not an emergency, but refer for urology eval if painful or affecting development/fertility.
    • If no symptoms usually requires no treatment

Testicular Torsion

  • What it is: The testicle twists, cutting off its own blood supply — a true surgical emergency.
  • Symptoms:
    • Sudden, severe scrotal or groin pain
    • May radiate to lower abdomen
    • Swelling, redness, and high-riding or horizontally oriented testicle
  • Nursing Implication:
    • Immediate referral to emergency surgery
    • Do NOT delay — must be corrected within 6 hours to save the testicle

Inguinal Hernia

  • What it is: A protrusion of abdominal contents (usually bowel) through a weak spot in the inguinal canal.
  • Right side is most common
  • Symptoms:
    • Bulge in the groin or scrotum, often more noticeable when crying or straining
    • May be painless and reducible (can push it back in)
  • Nursing Implication:
    • Refer for surgical repair
    • If the hernia becomes irreducible, painful, or discolored, it may be strangulated → emergency

Genetic Disorders

  • Objectives
    • Identify common pediatric genetic disorders such as Down syndrome, Turner syndrome, Klinefelter syndrome, and Fragile X syndrome.
    • Describe key physical, developmental, and behavioral characteristics associated with each genetic disorder.
    • Explain patterns of genetic inheritance (e.g., trisomy, translocation, X-linked) relevant to pediatric nursing practice.
    • Discuss nursing implications, including early interventions, family education, and referral needs.

Genetic Inheritance

  • Types of Genetic Inheritance:
    • Autosomal Dominant: Only one copy of the altered gene is needed (e.g., Huntington's disease).
    • Autosomal Recessive: Two copies of the altered gene (one from each parent) must be inherited (e.g., cystic fibrosis, Tay-Sachs).
    • X-Linked Recessive: Gene located on the X chromosome; primarily affects males (e.g., hemophilia, Fragile X).
    • Chromosomal Abnormalities: Caused by extra, missing, or rearranged chromosomes (e.g., Trisomy 21 – Down syndrome).
  • Key Points:
    • Inherited traits are passed from biological parents through genes.
    • Some disorders are inherited, while others occur due to spontaneous mutations.
    • Nurses should understand inheritance patterns to educate families, recognize risk factors, and support genetic counseling referrals.

Trisomy 21: Down's Syndrome

  • Common physical signs include:
    • single palmer crease, short fifth finger that curves inward
    • flattened nose and face, upward slanting eyes,
    • widely separated first and second toes and increased skin creases
    • Decreased muscle tone at birth
    • Excess skin at the nape of the neck
    • Flattened nose
    • Upward slanting eyes
    • Small ears
    • Small mouth
    • Wide, short hands with short fingers
    • Separated joints between the bones of the skull
    • Single crease in the palm of the hand
    • White spots on the colored part of the eye
Down Syndrome Comorbidities
  • Neurodevelopmental
    • Intellectual disability
    • Developmental delay
    • Language disorders
    • Cerebellar hypoplasia
  • Psychiatric
    • Anxiety and depression
    • Behavioural disturbance
  • Neurological
    • Alzheimer disease
    • Epilepsy
  • Craniofacial
    • Small, low-set ears
    • Epicanthic folds
    • Flat nasal bridge
    • Flat occiput
    • Small mouth
    • Upslanting palpebral fissures
  • Cardiovascular
    • Congenital heart defects (especially AVSD)
  • Musculoskeletal
    • Atlantoaxial instability
    • Small stature
    • Short fingers
    • Hypotonia
  • Other
    • Haematological disorders
    • Immune dysfunction
    • Obesity
    • Bowel dysfunction
  • Gastrointestinal
    • structural defects
    • Male infertility
  • Sensory
    • Conductive and sensorineural hearing loss
    • Refractive errors, cataracts, keratoconus and amblyopia
  • Respiratory
    • Obstructive sleep apnoea
    • Respiratory tract infections
  • Autoimmune
    • Thyroid disease
    • Coeliac disease
    • Alopecia
    • Type 1 diabetes mellitus
    • Psoriasis

Turner Syndrome

  • Key Facts:
    • Affects females only
    • Caused by the partial or complete absence of one X chromosome
    • Individuals have 4545 chromosomes instead of 4646 (written as 45,X45,X)
    • Not inherited; usually occurs as a random event during cell division
  • Clinical Features:
    • Short stature
    • Webbed neck
    • Broad chest with widely spaced nipples
    • Low hairline at the neck
    • Lymphedema (swelling of hands/feet in infancy)
    • Gonadal dysgenesis → infertility or delayed puberty
    • May have cardiac abnormalities (e.g., coarctation of the aorta)

Klinefelter Syndrome

  • Key Facts:
    • Affects males only
    • Caused by the presence of one or more extra X chromosomes (most commonly 47,XXY47,XXY)
    • Occurs in approximately 1 in 500 to 1,000 live male births
    • Often not diagnosed until adolescence or adulthood
  • Clinical Features:
    • Tall stature with long legs
    • Small testes and infertility (due to testicular atrophy)
    • Gynecomastia (breast development)
    • Reduced facial and body hair
    • Learning difficulties, especially with language and reading
    • Low muscle tone and delayed puberty

Fetal Alcohol Spectrum Disorder (FASD)

  • Group of conditions that present due to exposure to alcohol in utero
  • Children born with FASD can have disruptions in their growth and development
  • Diagnosis is made by looking at the child’s signs and symptoms as no other tests are available to confirm diagnosis
Treatment plan should include:
  • Developmental Services
  • Educational Interventions
  • Behavior Modification
  • Parent Training
  • Social Skills Training
  • Medications
  • Other Medical Therapies
  • Transition Planning
  • Advocacy In School And The Workplace
  • Referral For Community Support Services

Fragile X Syndrome

  • Key Facts:
    • Most common inherited cause of intellectual disability
    • Caused by a mutation on the FMR1 gene on the X chromosome
    • More severe in males (they have only one X chromosome)
    • Affects approximately 1 in 4,000 males and 1 in 8,000 females
  • Clinical Features:
    • Developmental delay and intellectual disability
    • Speech and language delays
    • Behavioral features: anxiety, hyperactivity, autism-like behaviors
    • Long face, large ears, prominent jaw
    • Large testes after puberty (macroorchidism) in males

Fragile X Syndrome: Common Physical Features

  • Prominent, Broad Forehead
  • Large Ears
  • Long Face
  • Strabismus (Squint)
  • Murmur/ Mitral Valve Prolapse
  • Hollow Chest
  • Hypotonia Joint Laxity
  • Scoliosis
  • Prominent Jaw, Dental Crowding High Arched Palate
Symptoms
  • Autism Spectrum Disorders
  • Intellectual Disability
  • Distinct facial features
  • Macro-Orchidism