Transcript Inborn Errors of Metabolism

Board Review 4/2/2013
True or False: My March Madness bracket was way
off this year
A. True
B. False
C. Um, this is the south… we only care about
football
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Anorexia and bulemia are fairly rare conditions with
a prevalence of 0.5-2%
Onset
 Anorexia: mid-adolescence
 Bulimia: late-adolescence
 Majority of patients report body image concerns and
disordered eating before adolescence
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Predisposing factors
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Family history of eating disorders, obesity, mood disorder
Girls with early puberty or obesity (especially if teased)
Past history of abuse, often sexual
Sports that place an emphasis on thinness
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Recognize risk factors and early signs of an eating
disorder and obtain an appropriate history and
physical exam to guide management.
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Comorbid mental disorders are present in the majority
of patients with an eating disorder.
Anorexia
 Major depression
 Anxiety disorders
 OCD
 Generalized anxiety disorder
 Social phobia
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Bulimia
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Comorbid mood disorders (depression, bipolar disorder)
Anxiety disorders
Substance abuse disorders
MORE high risk behaviors due to impulsivity
Which of the following is NOT a criteria for the
diagnosis of anorexia nervosa?
A.
B.
C.
D.
E.
An intense fear of gaining weight or becoming
fat.
The absence of 3 consecutive menstrual cycles
in a post-menarchal female
Denial of the seriousness of low body weight
Refusal to maintain body weight more than
80% expected for height and age
An undue influence of body weight or shape on
self evaluation.
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Restrictive type…no
binge or purge
behaviors; most
common type
Binge-eating/purging
type
 Patient regularly engages
in binge eating or purging
behaviors
 Vomiting
 Laxatives/enemas
 Diuretics
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Inpatient management
 Multidisciplinary team, including
medical specialist, psychiatrist,
nutritionist, and social worker
 Goals
 Correct malnourishment
 Promote healthy eating and
weight gain
 ½ pound increase per day
 Correct electrolytes
 Rule out psychiatric issues
 Develop a discharge plan
 Patient contracts…
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Prevent refeeding syndrome
 Reintroducing food to a patient with anorexia may cause a
rapid fall in phosphate, magnesium, and potassium, along
with an increasing extracellular volume
 Hypophosphatemia can lead to
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Rhabdomyolysis
Decreased cardiac motility, cardiomyopathy
Respiratory and cardiac failure
Edema, hemolysis, ATN, seizures, and delirium
 Phosphate supplementation
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DC once stable and appropriate weight gain, often to
outpatient facility
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The further patients are from their ideal body weight, the
more likely they are to suffer medical complications
Most complications are corrected with return to ideal
body weight
Bone loss due to hypothalamic amenorrhea or low
testosterone (males) does NOT automatically return to
normal with weight gain
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Establish a treatment team to monitor the patient.
 Clear guidelines should be given to the patient with clear criteria
for re-admission
 Establish appropriate weight goals… ½-1lb gain per week
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There are varying levels of outpatient care that can be
coordinated with the help of the pediatrician.
For BMD loss
 At least 400-800 IU of vitamin D
 1200mg elemental calcium
 DEXA scan for those with 6 months of amenorrhea
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NO role for psychopharmacology
Outpatient behavioral therapies and family therapies are
beneficial
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A.
B.
C.
D.
E.
A 17-year-old girl is brought to the emergency department by
her parents because of vomiting. She has no fever, headache,
abdominal pain, or diarrhea. She says that over the past 3 years
she has periods of time when she vomits and then she is fine for
a while. She denies inducing the vomiting. Her periods are
regular, and her last one was 2 weeks ago. On physical
examination, you note normal vital signs, a body mass index of
28.5, a small subconjunctival hemorrhage on the right eye, and
slight enlargement of her parotid glands bilaterally. Laboratory
results are fairly normal. Of the following, the MOST likely
explanation for these findings is
Acute pancreatitis
Bulimia nervosa
Cyclic vomiting
Diabetic ketoacidosis
Ectopic pregnancy
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Patients are often of normal weight or above normal weight and can easily
hide their disorder
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Purging subtype describes an individual who engages regularly in selfinduced vomiting or the misuse of laxatives/diuretics/enema
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Nonpurging subtype describes someone who uses other excessive
measures (exercise or fasting) to burn calories
You are seeing your 18 year old patient with a known
history of bulimia. Today, you are concerned that your
patient may be doing poorly with her outpatient control, as
the parents are noticing more warning signs. Every month
you follow the patient’s electrolytes. Which 2 electrolytes
should be closely evaluated to help you decide whether or
not to admit your patient to the hospital??
A.
B.
C.
D.
E.
Sodium and glucose
Potassium and bicarbonate
Sodium and chloride
Glucose and BUN
Potassium and chloride
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Outpatient management
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Team approach
Promote hydration, high fiber diet, and moderate exercise
Monitor electrolytes…PO potassium or IV if severe hypokalemia
PPI if reflux
Similar bone care as anorexia if amenorrhea!
FLUOXETINE has been shown to help reduce symptoms
Cognitive behavioral therapy
Most patients respond to outpatient management, but
some do meet the criteria for hospitalization
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Pediatricians should recognize warning signs for both
illnesses and intervene quickly!
 Anorexia
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Rapid or severe weight loss
Falling of growth percentiles
Excessive dieting or exercising
Constriction of food choices, calorie counting
Excessive concern with weight or body shape
 Bulimia
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Weight cycles
Excessive concern with weight or shape
Trips to bathroom after meals
Electrolyte abnormalities
Swollen parotic glands or knuckle abrasions
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Nearly 50% recover, 30% show improvement, and 20%
have a chronic course
Mortality rate up to 5%...worse for anorexia?
Prognostic indicators
 Good
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Onset before adulthood, especially before 14yo
Early, intensive treatment
Family support
Shorter duration of illness
 Bad
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Presence of bingeing and purging
Longer duration of illness before treatment
Poor family relations
Comorbid psychiatric conditions
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Eating disorder NOS: patient with disordered eating
who does not meet the criteria for anorexia or bulimia
Female Athlete Triad
 1) Low energy availability with or without an eating disorder
 2) Hypothalamic amenorrhea
 Low body fat composition that leads to low estrogen and
amenorrhea
 3) Osteoporosis
 Treatment is multidisciplinary
 Increase energy availability
 Calcium and vitamin D supplements with weight bearing
exercises; DEXA scan if fracture or >6mo amenorrhea
 Protection…maintain healthy balance between exercise,
energy availability, and body weight
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The US has the highest rate of teen pregnancy and
births in the industrialized world
There are numerous social, economic, educational
problems associated with teen pregnancy
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<15yo adolescents often have the worst outcome
 Increased prematurity
 Lower birth weight
 Higher neonatal death
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Younger teens are also more likely to suffer from
pregnancy-related complications themselves
There is often a lack of prenatal care
 With good prenatal care and appropriate nutrition, these
physiologic outcomes can be significantly improved but
not eliminated
What percent of adolescents will become pregnant
within the first six months of initiation of sexual
activity if ineffective contraceptive measures are
used?
A.
B.
C.
D.
E.
25%
30%
40%
50%
60%
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Teens often don’t seek contraceptive care until 6mo1year after the initiation of intercourse…but 50% will
conceive within the first 6 months.
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Pediatricians are likely to see many children who are
not yet sexually active and have a unique
opportunity to intervene.
 “All adolescents should receive health guidance annually
regarding responsible sexual behaviors, including
abstinence.”
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We must educate ourselves about ALL available
options to help our patients make the best decision.
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Detailed contraceptive counseling is required for
adolescents to understand proper use and the
consequences of improper use of contraception
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Emphasize that condom use during oral, vaginal, or
anal sex is ALWAYS important for STD
prevention…as contraceptives do NOT prevent
transmission
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Recognize barriers to contraception
 Developmental stage of the adolescent
 External barriers
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Access to a clinic
Lack of confidential care
Fear of disapproval by parents or practitioners
Absence of adolescent-friendly services
Language and cultural barriers
Fear of the pelvic exam
Cost
 Misconceptions about contraception…weight gain, future
fertility, acne, and risk of cancer
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C0mpliance with a contraceptive method is
directly related to
 A perceived lack of adverse effects
 Older age of the user
 Satisfaction with the type of contraceptive method
selected
 Desire to avoid pregnancy
Many adolescents are poorly compliant with
contraception, especially OCPs
 Compliance with is often influenced by peer or partner pressure
 Cognitive maturation often affects the patient’s understanding
of the consequences of misuse
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Poor compliance alters effectiveness…
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The pediatrician should counsel patients about
abstinence
“Virginity pledges”
 Ultimately sexual activity did not differ when compared to
non-pledgers
 Comparable rates of oral sex
 No difference in sexually transmitted infection rates
 Less condom use at first intercourse and less likely to seek
treatment for infectious symptoms
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More effective
 Encourage youth to make personal commitments
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Combined OCP
 Comprised of a synthetic estrogen and progestin
 Estrogen: typically ethinyl estradiol in varying amounts
(from 20mcg to 50mcg)
 Progestin: various generations, half-life increases with each
generation
 Monophasic: same dose x 3 weeks each month
 Triphasic: hormone amounts vary weekly
 Estrogen: prevents ovulation by inhibiting the GNRH axis
 Progestin: thickened cervical mucus, endometrial atrophy,
and decreased effectiveness of the tubal transport
mechanism.
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Progestin only pill
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Combine OCPs have other, non-contraceptive uses,
such as the treatment of
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Dysfunctional uterine bleeding
Dysmenorrhea
Acne
Hirsutism
PCOS
Irregular menses
Combined OCPs also decrease the risk of uterine
and ovarian cancer
All of the following are ABSOLUTE (Class 4)
contraindications to combined oral contraceptive
use EXCEPT
A.
B.
C.
D.
E.
History of DVT or pulmonary embolism
Prior cerebrovascular event
Breastfeeding in the first 2 months after birth
Factor V Leiden mutation
Migraine headache with aura
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Absolute Contraindications (Class 4)
 History of DVT or pulmonary embolism
 Prior cerebrovascular accident
 Known Factor V Leiden mutation or other thromobophilic
condition
 Migraine headache with aura or neurologic changes
 **without a history of these…adolescents should be
reassured that these complications are rare and that the
risk of pregnancy is frequently greater than the risk
associated with the pill
 From “Laughing”: pregnancy, liver disease, elevated
serum lipids, breast cancer, coronary artery disease
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Relative Contraindications (Class 3)
 Having gallbladder disease
 Being fewer than 21 days postpartum
 Breastfeeding in the first 6 months after giving birth
(primary for the combined OCP)
 Receiving medications that may interfere with the
efficacy of OCP…anticonvulsants
 From “Laughing”: HTN, depression
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IF the combined OCP is not tolerated or there is a
contraindication to using an estrogen-containing
pill, the progestin only pill may be an option
 DO NOT prevent ovulation
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NO pelvic exam needed!
 Can screen for STDs using NAAT of the urine or vaginal
swabs
 Pap smears: NEW guidelines…first Pap smear required at
the age of 21 regardless of sexual activity
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A history, BP measurement, and negative UPT are
sufficient to prescribe OCPs
Use of condoms should still be encouraged for STD
prevention!
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Estrogen
 *clot…risk increased with
smoking*
 Irregular menstrual bleeding
 Breast tenderness
 Fluid retention
 Nausea
 Increased appetite
 Headache
 Hypertension
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Can be decreased by
decreasing dose of
estrogen, but small doses
are associated with
breakthrough bleeding.
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Progestin
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Menstrual changes
Bloating
Mood changes
Increased appetite
Weight gain
Acne, hirsuitism, malepatterned baldness are rare
All OCPs decrease free
testosterone similarly, so
any of the low-dose OCPs
are appropriate treatment
for hyperandrogenic
symptoms
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Are common and can result in poor compliance
 Weight gain
 May cause increased appetite
 No documented evidence of true weight gain
 Acne actually improves during OCP therapy
 Mood changes are rare
 Most often associated with the progestin component
 If concerned, type of progestin can be varied
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A.
B.
C.
D.
E.
Drospirenone, the progestin component of the
combined OCP Yasmin, should not be used in
patients at risk for
hyperglycemia
hypokalemia
hypernatremia
hyponatremia
hyperkalemia
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Drospirenone
 New progestin in the combined OCP Yasmin
 17-alpha-spironolactone derivative that possesses diuretic
and anti-androgenic activity, favoring use in PCOS
 Favorable profile in its effects on BP, weight, cholesterol
 Do NOT use in patients at risk for hyperkalemia
 Renal, hepatic, or adrenal insufficiency
 Medications: ACE inhibitors, ARBs, NSAIDs
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Chewable pill (Femcon Fe) for young patients who
find it difficult to swallow a pill
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Extended-cycle regimens
 Seasonale: monophasic, withdrawal bleed every 3 months
 Adverse effects due to hormone withdrawal are reduced
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Premenstrual symptoms
Headaches and migraines
Mood swings
Heavy or painful monthly bleeding
 Initial increase in breakthrough bleeding improves after 6
months
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Low-dose formulations (Yaz) containing 20-35mcg
of estrogen
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Permeation of estrogen and progesterone directly
through the skin (Ortho Evra)
Adverse effects
 Skin irritation and rash at site of application
 Increased incidence of breast symptoms and
dysmenorrhea compared to OCP users
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FDA warning
 Women are exposed to 60% more estrogen than those
taking 35mcg EE OCP
 FDA stated that this increased estrogen exposure might
increase the risk of blood clots but that it was unknown
whether users would actually experience increased risks
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DMPA: depot medroxyprogesterone acetate
 Intramuscular injection every 3 months
 Subcutaneous version available, as well
 Progestin only: Inhibits ovulation, thickens cervical mucus,
thins the endometrium to prevent implantation
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HIGH discontinuation rates…75% stop by 1 year
Adverse effects include menstrual irregularities,
weight gain, and reduction in bone mineral density.
 Loss of BMD should be mentioned but kept in context
 Likely recovery upon discontinuation
 Low risk of fractures
 Benefits of preventing pregnancy likely outweigh risks
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Return to fertility may take up to 10 months
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NuvaRing
 Combined estrogen and progestin ring that inserts into the
vagina and does not depend on daily compliance
 Use
 Inserted on last day of menstrual cycle for 3 weeks
 Removed for 1 week, during which withdrawal bleed occurs
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More than 90% compliance over a 1 year period
Adverse effects
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Irregular bleeding but LESS than OCPs
Vaginitis, leukorrhea, vaginal discomfort
Headache
Nausea
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Hormone-containing rods/capsules
Surgically inserted beneath the skin
 ALL are progestin-only implants
 Suppresses ovulation but not follicular activity
 Estrogen concentrations remain almost normal….less concern
about effect on cholesterol and BMD
 Return to fertility occurs promptly after removal
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Adverse effects
 Irregular bleeding is common (as with all Progestin-only
agents)
 Typically diminishes within 6-9 months
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Progestin (LNG)-releasing…Mirena
 Acts locally to thicken cervical mucus, inhibit sperm motility and
function, and cause endometrial atrophy
 Can be used for up to 5 years; rapid return to fertility
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Recommended mainly for parous women
 Women at HIGH risk for PID are NOT good candidates!
 Contraindicated in women with history of or at risk for ectopic
pregnancy
 Can reduce menstrual flow in adolescents with heavy periods
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Adverse effects
 Bleeding disturbances…but amenorrhea by 1yr in up to 50%
 Acne, dizziness, HA, breast tenderness, weight gain, nausea,
vomiting, and ovarian cysts.
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A.
B.
C.
D.
E.
While working in the ER last night, you took care of a
patient who was recently sexually assaulted while at a
party. She was scared to come to the hospital initially, so
some time has elapsed. So that you can treat your
patient and help her prevent pregnancy, you ask
EXACTLY when the assault happened. Ideally, within
how many hours after the assault should emergency
contraception be administered to remain effective ?
36 hours
48 hours
60 hours
72 hours
84 hours
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Should be available to all adolescents
ALL victims of sexual assault should be offered EC
Initiation within the first 72 hours after unprotected
intercourse decreases pregnancy risk by at least 75%
 Progestin-only EC (Plan B) consists of 2 pills taken 12 hours
apart
 “Yuzpe Regime”: combined OCPs at higher doses,
significant nausea and vomiting due to the estrogen
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Adverse effects: HA, nausea, breast tenderness,
dizziness, fatigue, vaginal spotting
Contraindications: pregnancy, allergy, undiagnosed
genital bleeding
We didn’t go into OB/GYN for a reason…
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Typically occurs at SMR 4 breast development
Average age of menarche: 12.4 yrs
 Range: 11-14 yrs
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Physiologic leukorrhea precedes menses by 3-6
months
 Provide reassurance, normal hygiene, sitz baths if it is
bothersome
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Immature hypothalamic-pituitary-gonadal axis at
the beginning of menstruation
 50% of menstrual cycles are anovulatory in first 2 years
after menarche
 Can cause menstrual irregularity that is normal
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Irregularity is common in first 1-2 years of
menses
 Typically does not warrant a work-up
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But should still investigate any unusual degree of
irregularity regardless of time from menarche:
 Missing a period for 90 days
 Bleeding for more than 7 days or very heavy bleeding
 Bleeding for more than 10 days is NOT physiologic
 Failure to establish a regular period by 2 years
You are evaluating a 16 yo female in your office for
secondary amenorrhea. She states menarche was at age
11, she typically bleeds for 4-5 days, using 3-4 pads or
tampons per day. She has an interval of 21-28 days
between her periods. Her last period was 3 months ago.
She denies any abdominal pain, weight changes, or
medication use but does complain of excessive hair
growth on her face and abdomen. On exam, her vitals are
all stable and her BMI is 35. Of the following, which is the
FIRST step in your evaluation?
A. Pelvic ultrasound
B. Serum LH and FSH levels
C. Serum testosterone levels
D. Urine pregnancy test
E. Refer her for diet and weight education
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Lack of menses by 15-16 years; or within 2-3
years of thelarche
Differential diagnosis
 Anatomic abnormalities
 Can present with abdominal pain, constipation, urinary
retention, abdominal mass
 Imperforate hymen, transverse vaginal septum, vaginal
or uterine agenesis
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Pregnancy
Ovarian pathology
Hypothalamic/pituitary disorders
Adrenal disease
You are seeing a 15yo girl for her annual health visit.
Menarche was at 12yrs and she had normal menses for 2
years. Over the last year her menses became more
irregular and stopped 4 months ago. Her mother notes
that she is very health conscious. She has gained no
weight over the past 3 years. On exam, her BMI is 17,
heart rate is 55 bpm, she has no acne or hirsutism, and
she is at SMR 5 genital development. Of the following,
the most likely cause for her amenorrhea is:
A. Heart disease
B. PCOS
C. Exercise regimen
D. Anabolic steroid use
E. Gonadal failure
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Definition: Cessation of menstrual periods for ≥
90 days
Differential Diagnosis
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Pregnancy!!
Functional hypothalamic amenorrhea
PCOS
Ovarian insufficiency
Thyroid, adrenal disorders
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Most common cause of Hypogonadotropic
hypogonadism
 Suppression of GnRH pulsatility
 No anatomic or organic disease is found
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Caused by stress, weight loss, excessive exercise
Leads to low estrogen state  low bone mass
 Also seen in ovarian failure
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Female athlete triad:
 Energy insufficiency, amenorrhea, low bone density
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Treat with weight gain, estrogen replacement (OCP)
 Other areas being studies: leptin replacement, androgens,
estrogen alone
A 15yo girl is concerned about irregular menses and
acne. Menarche was at 11 years and 9 months and
she developed pubic hair around age 7. On exam, her
BMI is 32.3, she has facial comedonal and pustular
acne, as well as darkening of her neck and axilla. She
has hypopigmented stretch marks on her abdomen
and hair in a linear distribution from her umbilicus to
the pubic symphosis. She is at SMR 5. Of the
following, the most likely diagnosis is:
A. Cushing Syndrome
B. Hypothyroidism
C. Metabolic syndrome
D. Physiologic anovulation
E. Polycystic ovary syndrome
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Most common endocrinopathy in young women
Common cause of secondary amenorrhea OR
abnormal vaginal bleeding
Present with amenorrhea (or oligomenorrhea) and
signs of hyperandrogenism (hirsutism, acne)
 Often, not always, overweight
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Abnormal LH pulsatility and secretion
 Leads to increased androgen production and anovulation
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Evaluation:
 LH, FHS, TSH, prolactin, serum testosteron, free
testosterone, and DHEAS
 Increased LH/FSH ratio
 If evidence of virilizaton  exclude late-onset CAH
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Associated with insulin resistance in 50% of cases
Increased risk of endometrial cancer
Treatment:
 Cyclic use of progestins
 Estrogen-containing contraceptives
 Metformin
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Normal period:
 Lasts 3-7 days
 Interval: 21-45 days
 more commonly 21-35 days
 Total blood loss: 35-40ml
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Menorrhagia: large quantity of bleeding
 > 7 days of bleeding or > 80ml blood loss
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Metorrhagia: irregular bleeding
Menometorrhagia: irregular heavy bleeding
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Due to delay of maturation of negative feedback
loop
 Anovulatory cycles
 Constantly proliferating endometrium with irregular
shedding
 Diagnosis of exclusion
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Differential diagnosis
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Threatened abortion
Ectopic pregnancy
Bleeding disorder
Infection (PID)
Endocrinopathy (PCOS, thyroid disorder)
A 14 yo girl, who has had irregular bleeding since menarche at age
11 years, presents with painless menstrual bleeding of 14 days’
duration. She is using 8 to 10 pads per day. She is tired and is
upset with the number of days of bleeding. The only finding on
physical examination is mild pallor. Her heart rate is 82, blood
pressure is 120/80, with no postural changes. Labs show a
hemoglobin of 9.4 g/dL, normal platelet count, PT, PTT, and von
Willebrand panel. Of the following, the MOST appropriate
treatment for this girl is
A.
Iron-rich diet
B.
A daily dose of oral progesterone pills
C.
Combined oral contraceptive pills and iron supplementation
D. Gynecologic referral for surgical treatment
E.
Tracking with a menstrual calendar and follow-up appointment
in 3 months
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Evaluation: UPT, CBC with retic, TSH
 Must screen for anemia/iron deficiency
 Other labs based on differential diagnosis
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Treatment:
 Surgical intervention is RARELY necessary
 Depends on severity of anemia
 Admit if severe
 Treat any anemia with iron replacement
 Goal: stabilize endometrium
 Estrogens for initial hemostasis
 Progestins for endometrial stability
 Most cases: treat with combination OCP
 GnRH analogs for prophylactic (not acute) treatment
A 15 yo girl presents for treatment of menstrual
cramps. She had menarche 3 years ago and over
the last year she began having pain with her
cycle. The pain is worse on the first day and she
occassionally misses school due to the pain. Of
the following, which is the BEST initial
treatment?
A. Acetaminophen
B. Calcium channel blocker
C. Combined OCP
D. Omega-3 fatty acids
E. Ibuprofen
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Pain associated with menstrual cycle
Primary(functional): occurs in absence of pelvic
disease
 Pain in lower abdomen, back, thighs
 Caused by prostaglandin E2 and F2a secretion
 Treatment:
 1st line: NSAIDS
 If no help after 2-3 cycles, consider next step
 2nd line: OCP
 If no help after 3-6 months, reconsider secondary causes
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Secondary: due to pathologic process
 IUD, PID, endometriosis, pregnancy
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Inflammation of the cervix
Caused by
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Chlamydia trachomatis
Neisseria gonorrhoeae
Trichomonas vaginalis
HSV
Signs/Symptoms:
 Vaginal discharge, itching, irregular bleeding,
dyspareunia, friability of cervix
 Lower abdominal pain or cervial/adenexal tenderness
suggest PID
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Evaluation
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NAATs for gonorrhea or chlamydia
Wet prep, HIV, syphilis
Treat based on test results unless unsure of follow-up
High risk adolescents should be screened for GC and chlamydia
every 6 months
 Multiple sexual partners, prior history of STI
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Treatment
 Gonorrhea:
 Ceftriaxone 250mg IM x1 (125mg for <45kg) or
 Cefixime 400mg PO x1
 Allergic to cephalosporin?
 Desensitize or Azithromycin 2g PO x1 (resistance is growing)
 Chlamydia:
 Doxycycline 100mg PO BID x 7days or
 Azithromycin 1g PO x1
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Inflammation of the vaginal tissue
 Vuvlovaginal candidiasis
 Bacertial vaginosis
 More common in sexually active females
 Trichomonas vaginalis
 Sexually transmitted
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Signs/symptoms
 Vaginal discharge, pruritis/irritation
 Consistency of discharge can give clue to diagnosis
You are seeing a 16 yr old girl for complaints of
malodorous vaginal discharge. No abdominal pain or
urinary symptoms. GC and chlamydia testing 3
months ago were negative and she has not been
sexually active since. On exam there is a
homogenous gray discharge, normal cervix, no
tenderness. A wet mount shows the following. What
is the most likely diagnosis?
A. Bacterial vaginosis
B. Chemical vaginitis
C. Chlamydial cervicitis
D. Physiologic leukorrhea
E. Vaginal candidiasis
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Risk factors
 Increasing number of sexual partners, a new sex partner, lack of
condom use, douching, cigarette smoking, IUD
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Organism(s)
 Polymicrobial; changes in vaginal flora
 Increase concentration of: Gardnerella vaginalis, genital mycoplasmas,
anaerobic bacteria
 Gardnerella is normal flora…but seen more commonly in sexual active
youth**
 Decrease in concentration of hydrogen peroxide-producing
Lactobacillus
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Presentation
 Thin, white/grey, homgenous, adherent vaginal discharge; fishy odor
 60% are asymptomatic but can have:
 Abdominal pain, dysuria, pruritis
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Complications
 Increases the risk for PID
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Diagnosis
 Presence of 3 or more of the following (Amsel criteria):
 Homogenous, thin grey or white, noninflammatory
vaginal discharge that smoothly coats the vaginal walls
 Vaginal fluid pH greater than 4.5
 A fishy odor (amine test) of vaginal discharge before or
after addition of 10% potassium hydroxide (ie, the “whiff
test”)
 Presence of “clue cells” on microscopic examination of at
least 20% of vaginal epithelial cells.
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Treatment
You are seeing a 15-year-old sexually active girl who
complains of vague lower abdominal pain and a vaginal
discharge. She has no systemic symptoms but has
experienced intermittent dysuria over the past week.
She believes that she needs only a prescription for a
yeast infection because she was treated for this a few
weeks ago but the discharge did not resolve completely.
Of the following, the MOST appropriate next step is to:
A. Obtain a vaginal swab for a wet mount evaluation only
B. Perform a speculum and bimanual examination
C. Perform an external genital inspection only
D. Provide an antifungal prescription
E. Send a urine specimen for culture only
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Sexually active with complaints (discharge, pain)
Menstrual disorders such as delayed onset of
menarche, lack of or excessive bleeding, or
severe menstrual cramps
Unexplained pelvic pain
Pregnancy-related complaints
Suspected abuse
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Serious consequence of
STDs
Can result in infertility,
ectopic pregnancy,
chronic pelvic pain
Polymicrobial infection
Presentation
 Lower abdominal pain,
discharge, irregular
bleeding, dysuria, n/v, fever,
malaise
 RUQ pain  perihepatitis
 Can be seen in either GC or
chlamydial infection
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Diagnosis:
 Must have abdominal
tenderness, adnexal
tenderness or cervical
motion tenderness
 Must do pelvic exam!
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Labs/studies:
 NAAT for GC, chlamydia
 Wet prep
 Other STD testing (HIV,
syphillis)
 CBC, ESR/CRP
 +/- Ultrasound
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Hospitalize?
 Suspicion for a surgical emergency (appendicitis,
ovarian torsion)
 Severe illness
 Pregnancy
 TOA
 Inability to tolerate PO meds
 Failure of outpatient management
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STD syndrome characterized by inflammation of
the urethra
Signs/symptoms
 Urethral discharge (mucoid or purulent), itching,
dysuria, urinary burning and frequency
 *routine screening finds many asymptomatic
infections*
 Especially with trichomonas
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Diagnosis:
 Must have objective clinical or laboratory evidence of
urethral inflammation
 Visualization of discharge; WBCs or LE on urethral sample
 Send NAAT for GC and chlamydia
 HIV and syphilis testing as well
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Management
 Empiric treatment for those unlikely to follow-up
 Try to differentiate between gonocococcal and NGU
urethritis
 NGU: Azithro 1g PO x1 or doxycyline 100mg PO BID x 7d
 Positive gonorrhea: ceftriaxone or cefixime
 If recurrent/persistent: add coverage for trichomonas
 Metronidazole 2g PO x 1 plust erythromycin
An 18 yo boy comes to your office with complaints of
burning with urination over the past 24 hours. He also
complains of low back pain for 48 hours. He denies rash,
but states his eyes are a little irritated. He is sexually
active. On exam, he is afebrile, his conjunctivae are
mildly injected, and his back is tender over the lower
lumbar area. There is no CVA tenderness. Genital exam
reveals no scrotal tenderness and scant yellow discharge
at the urethral orifice. Of the follow, what is the most
likely cause of his symptoms?
A. Chlamydia trachomatis
B. Gardnerella vaginalis
C. Neisseria gonorrhoeae
D. Treponema pallidum
E. Trichomonas vaginalis
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Disseminated gonorrhea infection
 Arthritis, tenosynovitis, dermatitis
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Reiter Syndrome (reactive arthritis)
 Associated with chlamydia
 More common with HLA-B27 haplotypes
 Urethritis/cervicitis, arthritis/synovitis,
conjunctivitis/uveitis, mucocuatneous inflammation
 “Can’t see, Can’t pee, Can’t climb a tree”
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Organism?
 Human papillomavirus
 Type 16 and 18 most frequently associated with cervical cancer**
 Type 6 and 11 most frequently associated with genital warts**
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Presentation?
 Condylomata acuminata
 Skin colored warts with cauliflower-like surface
 Can be pedunculated
 Range from a few mm to a few cm in size
 Males: penis, scrotum, anus (males often asymptomatic**)
 Females: vulva, perineal area (less commonly vagina or cervix)
 Typically painless
 Can cause burning, itching, local pain, or bleeding
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Complications?
 Cervical cancer
 Vuvlar, vaginal, penile, anal, oropharyngeal cancer
 Risk of cancer greater in patient with HIV and
cellular immunodeficiences
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Treatment?
 Podophylin, Trichloroacetic acid, Podofilox,
Imiquimod**
 Cryotherapy, laser therapy, surgical removal**
 Screening!
 Pap tests every 3 years starting at age 21
 Vaccination!
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Painful vesicular or ulcerative lesions of the male
or female genital organs/perineum
After primary infection, HSV persists for life in a
latent form
 Recurrences are often asymptomatic
 Symptomatic recurrences may be heralded by a
prodrome of burning or itching at the site  can be
useful in instituting antiviral therapy early
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Treatment
 There is no available treatment to eradicate herpes
simplex virus
 Antiviral agents can control the symptoms and signs
 Acyclovir, valacyclovir, famciclovir
 Acyclovir 400 mg PO TID x 10 days; or 200 mg PO 5
times/day for 10 days
 Shortens duration of illness and viral shedding by 3-5 days
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Adherence to medical regimens can be improved in
chronically ill youth when it is discussed rather than
dictated.
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Barriers to adherence in chronically ill patients
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Time
Financial costs
Pain
Inconveniene
Embarrassment
Acknowledgment of personal vulnerability
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Adolescent delinquent behavior risk factors
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Parental psychiatric illness
ADHD
Learning disability
Serious behavioral problems (setting fires, cruelty to
animals) before the age of 5 years
 Serious head trauma
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Common health problems of delinquent youth
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Injury
Sexually transmitted infections
Dental problems
Cigarette use
Alcohol and/or drug abuse
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Parental involvement with their adolescent’s school
and extracurricular activities and knowledge about
their child’s friends are protective factors for
delinquency
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Firearms are a leading cause of death in adolescents
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Emancipated minors in Louisiana…in terms of giving
medical consent
 Legally emancipated by the court system
 Married (even if now divorced)
 NOT having your own child
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Confidentiality is important when caring for adolescent
patients
 Parents MUST be advised of a child’s condition if
 Serious suicidal/homicidal ideation or other potentially lethal
behaviors
 Physician discretion used in other scenarios
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Anticipatory guidance topics should include drinking and
driving, seatbelt use, bicycle helmet use, and firearm
safety