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CS Block II - Peds
Dr. Yang
| Question | Answer |
|---|---|
| Growth and development | use standard curves for first 36mo to gauge short stature and failure to thrive; indicator of child's health and deviation from normal may indicate underlying problem |
| Short stature | below average height for sex/age; shortest 5% of population; usu 3 standard deviations from the norm; when in doubt go back to standard curve if the demographics produce larger children; look at parents - child may be normal for genetics |
| Causes of short stature | genetic, nutritional, endocrine/metabolic, chronic disease (JRA), phsyco/social (neglect), constitutional |
| Insulin and stature | most influential of all growth hormones; baby can become very large in utero if mom is diabetic |
| Androgen/Estrogen steroid hormones and stature | most influential during growth spurt at puberty; high velocity |
| Hormonal influences on stature | insulin, thryoid hormone, growth hormone, androgen/estrogen |
| Constitutional Delay in Height | slower growth in peripubertal time than normal; growth velocity curve is more attenuated w/lower increase at puberty |
| Peripubertal events in growth: Girls | breast buds appear before pubic hair, growth velocity peaks and menarche starts |
| Peripubertal events in growth: Boys | enlargment of testes, then pubic hair, then penile growth; peak height velocity is 2yrs after that of girls (14 vs 12) |
| Growth hormone deficiency | characterized by short stature of varyin derees dependent on severity and specific abnormality (GH, GH-releasing hormone receptor, or GHR) |
| Alterations in GH include | alterations in production, regulation, secretion and bioactivity of GH |
| Abnormalities in GHR may be | due to genetic or acquired defects causing a state of GH resistance or insensitivity referred to as GH insensitivity syndromes (GHIS) |
| Anterior Pituitary Hormones | GH, LH, FSH, TSH, Prl, ACTH |
| GH specifics | 191 aa, causes growth in almost all tissues by inc cell number ans size and promoting differentiation of specific cells (ex: muscle cells) |
| Sleep and Growth Hormone | secreted in pulsatile fashion under control of hypothalamic GHRH and somatostatin; blood concentration peaks 60-90min after falling asleep |
| Idiopathic hypopituitarism | can present as isolated deficiency or part of a combined pituitary hormone deficiency syndrome; |
| Neonates and idiopathic hypopituitarism | usu present w/normal birth wt and length, but impaired growth occurs w/in 2yrs; in neonatal period hypoglycemia/prolonged jaundice or micropenis should alert physician of a congenital problem |
| GHD and Hypopituitarism | some families have isolated GHD while others have multiple pituitary deficiencies; those pedigrees w/resistance to GH are highly consanguineous |
| Causes of GHD | idiopathic, genetic, congenital, acquired, cranial irradiation, transient (psychosocial deprivation); 1/3,500 kids |
| Congenital causes of GHD | a/w structural defects (no corpus callosum, septo-otic dysplasia, holoprosencephay, arachnoid cyst); a/w midline facial defects (single central incisor, clefting, nasal dimple) |
| Acquired causes of GHD | perinatal/postnatal trauma; CNS infxns, primary tumors of hypothalamus or pituitary (craniopharyngioma, glioma/astrocytoma, germinoma); Secondary tumors of hypothalamus/pituitary (histiocytosis, lymphoma) |
| Idiopathic GHD | no organic lesion; defective synthesis/release of hypothalamic GHRH in most pts; high incidence in perinatal probs (ex: breech birth, vaginal bleeding) |
| GH insensitivity syndromes | severely short; they don't grow; characteristic facies (Laron Syndrome); GH levels are either high or normal; GHR defect |
| GH insensitivity: pathophysiology | GH induces IGF-1 secretion by liver/peripheral tissues; integrity of GH:IGF-1 axis is essential for normal linear growth in childhood; defects in GH secretion or action will result in dec serum IGF-1 which is the key growth promoting peptide |
| Insulin-like Growth Factor-1 (IGF-1) | 70 amino acids (not insulin...which itself is only 26 aa when clipped off of c-peptide); it is a trophic factor that mediates effects of GH |
| Congenital Hypothyroidism: Symptoms | floppy infant, thick/protruding tongue, poor feeding, choking episodes, constipation, prolonged jaundice, short stature |
| Congenital hypothyroidism: Signs and Tests | widely separated sutures w/large fontanelles, dull facies, dry/brittle hair w/low hairline, short thick neck, growth failure, short limbs, broad hands w/short fingers, myxedema, hypotonia, hoarse cry/voice |
| Congenital hypothyroidism: stats | dt incomplete thyroid development in 1/3000 births; girls 2x more likely than males; usu screened w/PKU screen at birth and at 2wk follow-up; if not caught, child develops MR |
| Congenital hypothyroidism: Treatment and complications | early dx is imperative, most effects are easily reversible; critical development of nervous system takes place during first few months; complicated w/MR and Growth retardation |
| Failure to thrive | usu noticed when child seems much smaller/shorter than peers; there is a normal variation so the "rate of change in weight and height" may be a better indicator; differentiate from medical or psychosocial problems |
| Failure to thrive: causes...major workup, but once you find the cause you can remove child from FTT category! | chromosomal; defective organ systems, endocrine probs; damaged CNS causes feeding probs; cardiac/respiratory disrupts O2/nutrient delivery; anemia/blood disorders; GI malabsorp/absence of digestive enzymes; cerebral palsy, chronic gastroenteritis, GERD |
| Symptoms of FTT | height, weight, head circumference doesn't progress normally; <3rd percentile; physical skills (roll over, sit, stand, walk are slow to develop); mental/social delay; delay of secondary sexual characteristic development; poor brain develop; poor nutrition |
| Lab workup for FTT | CBC (anemia), electrolytes, urinalysis, *thyroid fxn test, hemoglobin electrophoresis, xrays for bone age |
| Physical exam for FTT | vitals, general appearance, texture of hair/nails, alopecia, hygiene, rashes, bruises, burns, scars (signs of abuse); adversive behaviors - gaze avoidance, arching, hypertonicity, refusal to attach or respond appropriately, unusual body movements |
| Glucose | 1* energy source; stored as glycogen in liver/muscle during fed/anabolic state; glycogenolysis occurs during fasting/catabolic state to release glucose |
| Glycolysis pathway: fate of pyruvate | glucose metabolized to pyruvate, aerobic conditions (PDH regulates intry to TCA; acetyl-CoA oxidation to CO2); Anaerobic (no O2, no oxphos, no TCA; pyruvate shunt to lactose) |
| Fasting | hormonal response, dec insulin, inc glucagon/adrenalin/cortisol; glycogenolysis, gluconeogenesis, mobilization of FFA, FFA undergo b-oxid |
| Hypoglycemia | fasting and depleting glycogen stores; too much insulin (insulinoma, pancreatic b-cell hyperplasia); not enough substrate |
| Ketosis | fasting, depletion of glycogen store; low blood insulin, TG hydrolysis, FFA mobilized for b-oxid in mito; Acetyl-CoA processed by TCA; acetyl acetate/b-OH butyrate inc |
| Catabolic state | aa undergo oxidation and gluconeogenesis; 1st enzymatic stage is transamination to a-keto acid; 2nd step is decarboxylation |
| Cori cycle | gluconeogenesis in liver and glycolysis in muscle |
| Von Gierke's Disease: Type I GSD | G6P defect causes inability to convert G6P to glucose; all glycogen is trapped in liver/kidney/intestinal mucosa; fasting hypoglycemia and lactic acidosis, hepatomegaly, hyperlipidemia w/milky serum, hyperuricemia; most common GSD in kids |
| McArdle's Disease: Type V GSD | myophosphorylase defect; inability for muscle to generate ATP from glycogenolysis; severe pains/cramps from exercise in late child/adulthood; 50% have myoglobinuria secondary to Rhabdomyolysis after exercise; most common GSD in adults |
| Von Gierke's Clinical Triad | hypoglycemia, hepatomegaly, lipemic serum |
| Lysosomal storage disease | usu no treatment; prenatal diagnostic enzymatic tests available; |
| Gaucher's Disease | auto rec; deficiency of Glucocerebrosidase a/w accumulation in MQs; Ashkenazi Jews (1:1000); gene frequency (1:18) |
| Gaucher's Disease Sx: | organomegaly, anemia, bone disease, neurological symptoms |
| Gaucher's Disease: Tx | IV enzyme replacement therapy; gene therapy will cure dx permanently |
| Neimann-Pick Disease | lysosomal storage disease; hepatosplenomegaly, cherry red spot in retina |
| Tay-Sachs Disease | lysosomal storage disease; Cherry red spot in retina |
| Mucopolysaccharoidosis (MPS) | accumulation of GAGs dt lysosomal degradation enzyme defect; excessive urinary excretion of GAGs; cellular dysfxn/tissue/organ death |
| Hurler MPS-I and Hunter MPS-II | Iduronidase defect (a/w corneal clouding and inguinal hernias); Iduronidase sulfatase defect; Both accumulate dermatim sulfate and heparin sulfate |
| Urea cycle defect | not noticed until after child is at home; symptoms of hyperammonemia is not specific; failure to feed, loss of thermoregulation w/low core temp; somnolence |
| Hyperammonemia | sx progress from somnolence to lethargy and coma; abnml posture/encephalopathy dt CNS swelling/pressure on brainstem; 50% have seizures; hyperventilation 2* to cerebral edema and respiratory alkalosis; hypoventilation/respiratory arrest ensue |
| Hyperammonemia in milder urea enzyme deficiencies | accumulation may be triggered by illness or stress later in life which elevate plasma [ammonia]; Sx more subtle (loss of appetite, cyclic vomiting, lethargy, abnml behavior, sleep disorders, delusions, hallucinations, psychosis) |
| Urea cycle defects | arginase deficiency, carbamyoyl phosphate synthase deficiency, citrullinemia, hyperornithinemia, homocitrullinemia syndrome, N-acetylglutamate synthetase deficiency, ornithine transcarbamylase deficiency |
| Deficiencies of the 1st 4 enzymes of the urea cycle (CPSI, OTC, ASS, ASL) or the cofactor producer (NAGS) results in | accumulation of ammonia or other precursor metabolites in 1st few days of life; there is no secondary clearance, so symptoms develop rapidly; severity depends on where in cycle the defect is; |
| Carbamoylphosphate synthetase I deficiency (CPSI) | the most severe urea cycle disorder (along w/OTC deficiency); develop rapid hyperammonemia in newborn period; pts who are rescued are at chronic risk for repeated episodes of hyperammonemia |
| Ornithine transcarbamylase deficiency (OTC) | absence of its activity in males is as severe as CPSI deficiency; 15% of carrier females develop hyperammonemia that may require medical managment sometime during life |
| Citrullinemia (ASS) deficiency | severe hyperammonemia; pts are able to incorporate some waste nitrogen into urea cycle intermediates, which makes treatment slightly easier than OTC and CPSI |
| Argininosuccinic Aciduria (ASL) Deficiency | rapid onset hyperammonemia in newborn; require arginine supplementation; chronic hepatomegaly and elevated transaminases |
| Argininemia (ARG) Deficiency | not typically characterized by rapid-onset hyperammonemia; usu develop progressive spasticity, tremor, ataxia, choreoathetosis; growth is delayed |
| OTC: X-linked inheritance - Parents of a male proband | father not affected/not a carrier; in families w/>1 affected the mom is obligate carrier; if only 1 male, mutation may be de novo |
| OTC: X-linked inheritance - Parents of a female proband | due to de novo mutation or inherited mutation from either mom or dad; if female proband is only affected in family, test both parents |
| OTC: X-linked inheritance - Sibs of a male proband | risk depends on carrier status of mom; if she is a carrier, there's a 50% risk w/each pregnancy; if mom has no OTC mutation on leukocytes there is still a chance of germline mosaicism |
| UCD | rapidly reducing plasma ammonia concentration; pharm management for alternative nitrogen excretion; dec excess nitrogen in diet by eating more CHO and fat; red risk of neurological damge |
| Tx for Hyperammonemia | dialysis is fastest way until plasma levels <200umol/L; retreat rebound hyperammonemia; block production of ammonia w/IV arginine chloride; fat/CHO diet; |
| Inborn Errors of Metabolism (IEM) | rare, early recognition prevents MR; presentation confused w/sepsis, CNS disorders, cardiac/respiratory/GI diseses |
| Presenting symptoms of IEM | lethargy, poor feeding, Sx after feeding, seizures, persistant vomiting, tachypnea, Kussmaul breathing, apnea, jaundice, hepatomegaly, hypotonia, spasticity, FTT, bleeding, no risk for sepsis, fam Hx of early child death, consanguinity |
| IEM: Clinical manifestations | metabolic acidosis, hyperammonemia |
| IEM: Lab evaluation | CBC, differential, platelets, serum electrolytes, arterial blood gas, serum glucose, blood ammonia, urine for reducing substances (R/O galactosemia), urine (ketones), urine/blood (aa), urine (organic acids) |
| IEM: emergency treatment | remove accumulating metabolites via dialysis; stop ptn ingestion; arginine infusion if suspect urea cycle defect; B12/biotin for organic acidemia; send in labs; consult geneticist/metabolic specialist; if dying (samples - urine/plasma; tissue/liver bx) |
| Common IEM: Organic acidemias | Methyl malonic acidemia; Propionic acidemia; Multiple carboxylase deficiency; Isovaleric acidemia; Maple syrup urine disease |
| Common IEM: Urea Cycle Defects | Ornithine transcarbamylase deficiency; Arginosuccinic aciduria; Citrullinemia |
| Maple Syrup Urine Disease | branched chain aa; alpha-keto acid dehydrogenase defect; valine, leucine, isoleucine; essential aa |
| Congenital Adrenal Hyperplasia | ambiguous genitalia vomiting, diarrhea, dehydration salt-wasting; FTT & adrenal crisis in first 3-4wks; Dx w/elevated serum 17 hydroxyprogesterone and inc testosterone in females; Tx: glucocorticoid supplement for life to replace deficient cortisol |
| Congenital Adrenal Hyperplasia: general | 80-90% have 21-hydroxylase deficiency; potentially fatal if unrecognized b/c severe cortisol and aldosterone deficiency leads to: salt wasting, **hyponatremia/kalemia**, dehydration, hypotension |
| CAH: males | CYP21 deficiency; not identified neonatally b/c genitals are normal; seen at 1-4wks dt salt wasting and failure to thrive; some pts misdiagnosed w/gastroenteritis or pyloric stenosis |
| CAH: females | CYP17 deficiency; phenotypically obvious at birth; no breasts or menstruation in adolescence dt low estradiol levels |
| CAH: enzymes involved in cortisol/aldosterone sythesis | cytochrome p450 enzymes; CYP21 (21-hydroxylase); CYP11B1 (11-beta-hydroxylase); CYP17 (17-alpha-hydroxylase) |
| CAH and Hypertension | CYP11B1 and CYP17; dt accumulation of deocxycorticosterone; results in sodium retention |
| CAH: Genetics in US - Most common | CYP21 deficiency; 90% of adrenal hyperplasia; mutations or partial deletions; ashkenazi jews; auto rec dx requires 2 abnml genes; not all mutations/parital deletions result in disease |
| CAH Diagnosis | GET KARYOTYPE for sex; inadequate cortisol, aldosterone, or both in presence of accumulated precursor hormones; female ambiguous genitalia, salt-wasting, clitoromegaly, precocious pubic hair, excessive growth, premature phallic |
| Bronchiolitis | acute inflam obstruction of lower respiratory tract in infants; severe dx in 1-3month old; by 2yrs all kids have been infected; more freq in premies |
| Causative agents in bronchiolitis | Respiratory syncytial virus (RSV); Parainfluenza virus; Adenovirus, Mycoplasma |
| Bronchiolitis: Clinical Presentation | sneezing, clear rhinorhea, diminished appetite, fever, wheezy cough, dyspnea, tachypnea |
| Bronchiolitis: Physical findings | nasal flair, suprasternal retraction, intercostal retraction, substernal retraction, dec breath sounds, bilateral wheezing, prolonged expiration |
| Bronchiolitis: Differential | asthma, foreign body in trachea, tracheomalacia, bronchomalacia, vascular ring (2nd aortic arch chokes trachea); CHF; CF; pertusis |
| Bronchiolitis: Treatment | oxygen, bronchodilators (nubulized beta-agonists); Corticosteroids (parenteral, oral, nubulized); Antivirals (aerosol Ribavirin) |
| Bronchiolitis: Prevention | IM injectable monoclonal antibody to RSV F protein; prevents severe RSV in high risk infants; given to infants <2yo w/chronic lung disease or prematurity |
| Four Stages of Pneumonia | Congestion (first 24hrs); Red Hepatization (2-3days); Gray Hepatization; Resolution |
| Neonatal Pneumonia Presentation | tachypnea, respiratory distress (grunting, flaring, retractions); poor feeding, irritability, *hypothermia in newborns; cyanosis |
| Early onset Group B streptococci infxn in neonates | presents via ascending perinatal infxn as sepsis or pneumonia in 1st 24hrs of life |
| Chlamydia trachomatis pneumonia in neonates | often exists with conjunctivitis and presents during 2nd or 3rd week of life |
| Infants: presenting symptoms of pneumonia | cough, wheezing (usu upper airway noise), Hx of upper respiratory Sx; depending on degree of illness tachypnea, grunting, retractions, vomiting, poor feeding, irritability |
| Infants with bacterial pneumonia | often are febrile |
| Infants with viral pneumonia | often low-grade or afebrile |
| Toddlers and Preschool Kids: Pneumonia | **Cough;**Hx of upper respiratory illness bf onset of Sx; vomiting (post-tussive emesis); chest pain; abdominal pain w/tenderness (lower lobe infxn from virus); fever w/bacteria |
| Older kids and adolescents: Pneumonia | in addition to young child sx, HA, pleuritic chest pain, vague abdominal pain, vomiting, diarrhea, pharyngitis, otalgia/otitis; **Atypicals like Mycoplasma are more common in these pts** |
| Physical exam for suspected pneumonia | "shirts off, lights on;" observe attempt at feeding |
| Pneumonia and auscultation | "Crackles," focal wheezing or whistling and dec breath sounds in one lung field usu complicated by concommitant URI w/secretions; can lead to erroneous Dx; if sounds from both locations are approx the same, the likely source of abnml sound is upper airway |
| Focal Crackles (rales) in a febrile chils w/o underlying lung disease is: | Pneumonia until proven otherwise...however, not all kids have them |
| Pneumonia and percussion | focal areas of dullness localizes lesion; coincides w/crackles or location of pleurisy; can be verified on CXR (xrays lag 24hrs, so if kid is suspected, treat and repeat xray later) |
| Pathogens for newborns | acquired from maternal genital tract (Group B strep, E. coli, fecal coliforms, C. trachomatis); bugs from older sibs, day care, lack of immunization (esp pertussis) |
| Pathogens: 1-3 months of age | S. pneumoniae, S. viridans, S. aureus, H. influenzae; Most lower respiratory infxn occurs during flu season |
| Pathogens: beyond the newborn period | viruses cause most lower respiratory infxns: Parainfluenza virus, Influenza virus, Adenovirus, Respiratory syncytial virus (RSV) |
| Pathogens: Older kids and adolescents | bacterial pneumonia (Pneumococcus sp.); M. pneumoniae; C. pneumoniae; Pertussis may reinfect once immunity wears off (paroxysmal whooping cough 3wks - 3 months) |
| Imaging studies for lower respiratory infections | **only use to confirm your physical findings** CXR for pneumonia (AP and lat) |
| Lab work up for pneumonia/LRI | CBC (Neutrophil polymorph left shift (bacterial); Lymphocytes (viral and atypical infxns); Cultures not that useful (sputum Gram stain, Ab testing) |
| Asthma | bronchospasm, reversible airway disease, past Hx of bronchiolitis dt RSV infxn in infancy; may be a/w later development of COPD |
| Asthma: Physical findings | prolonged expiration, expiratory wheezes, dec breath sounds, intercostal retraction, intercostal retraction, suprasternal retraction, nasal flairs |
| Triggers for Asthma | allergens, exercise, cold air, pollutants (smoke, exhaust, molds, house dust), infxns |
| Acute asthma treatments | nebulized adrenergic bronchodilators, nebulized steroids, oral steroids, SQ adrenergic bronchodilators, oxygen |
| Chronic asthma treatments | aerosol adrenergic bronchodilators, aerosol steroids, combo bronchodilators/steroids; mast cell stabilizer; antihistamines (H1), leukotriene antagonists; |
| Elimination of allergens | pets, carpets, molds, smoke, get solid floors, air filters; hypoallergenic bed stuff, rugs, door mats |
| Peak flow meter | quick determination of airway constriction, full pulmonary fxn is needed, allows home monitoring of asthma |
| Sudden Infant Death Syndrome | unexpected sudden death bf 1yr of age w/inadequate demonstration of cause of death upon autopsy; death occurs when infant is presumed asleep; no outward symptoms |
| SIDS Statistics | 3rd leading cause of infant mortality in US 1mo - 1yr; rate has decreased by 50% since Drs recommended baby sleeping w/face up |
| SIDS Risk Factors | age (peak age of 2-4mo); males; afro-american or native american; FTT, no pacifier, prematurity, prone sleep position, recent fever, smoking exposure, soft bedding, thermal stress (no heat in home), cold season |
| Pathologic Apnea in Neonates | >20sec duration or <20sec if accompanied by bradycardia or O2 desaturation; rarely occur in preturm neonates older than 36wks |
| Bradycardia in premataure neonate | when HR slows at least 30bpm from resting heart rate |
| Pathologic O2 saturation level in neonate | <85% for at least 5sec; |
| Apnea of Infancy (AOI) | persistant apnea in child >37wks; |
| Apnea of Prematurity (AOP) | coincides with AOI, exact relatioship isn't clear |
| Periodic Breathing (PB) | periods of regular respiration for up to 20sec followed by apneic periods of less than 10sec that occur at least 3x in succession; occurance is directly proportional to degree of prematurity; more freq in active sleep & at high altitudes; no Tx required |
| Apparent Life-Threatening Event (ALTE) | NOT a diagnosis; rather, a frightening episode w/combo of apnea, color change, marked change in muscle tone, choking or gagging; fear that infant has died; misleading close-association with SIDS; 2x more common in males 8-14wks, premature at risk dt RSV |
| Mortality/Morbidity Relationship btw SIDS and ALTE | most pts dying of SIDS did not have previous ALTE; no relationship; pshychological morbidity exists with ALTE when monitors are employed b/c child is treated as if they "almost died" |
| ALTE: GER, Color change | gastroesophageal reflux a/w choking; Most often baby is RED (cyanosis suggests a clinically significant episode) |
| Respiratory Pauses | >20sec w/o vomiting, abnormal movements, or color change |
| Potential Causes of ALTE | infxn (sepsis, meningitis, infant botulism); Inborn errors of metabolism; Congenital adrenal hyperplasia; Dehydration or renal tubular acidosis; Child abuse (aborted infanticide, Munchausen syndrome by proxy (previous SIDS death in fam), physical abuse) |
| Upper Respiratory Infections | rhinitis, pharyngitis/tonsilitis, otitis media, sinusitis, nasopharyngitis, epiglotitis, laryngitis |
| Signs and symptoms of URI | cough, sneezing, rhinorhea, rales, stridor, wheeze, rhonchii, HA, fever, malaise, body ache, ear ache, retraction, tiredness, irritability |
| Coughing | *Pts seek med treatment for this more than any other complaint* - body's way to remove foreign material/mucous from lungs/throat |
| General classifications of cough | productive (phlegm or mucous from lungs); non-productive (dry not producing phlegm); they can be acute (<3wks duration) or chronic (>3wks duration) |
| Some causes of cough | usu viral URI (stimulation of nasopharyngeal mucosa receptors); results in secretions of nose and sinuses draining into throat; Dry coughs may follow viral illnesses for wks; Chonic cough (asthma, CF, allergies, GERD, chronic postnasal drip) |
| Tx for cough: Antitussives | suppress dry, hacking coughs; shouldn't be given when cough is productive and pt is bringing up mucous; use at night if cough keeps pt awake |
| Tx for cough: Antihistamines and Decongestants | good for coughs a/w post-nasal drip |
| Tx for cough: Expectorants | help break and bring up mucous |
| Cough Pathogens | Rhinovirus, RSV, Influenza virus, Persussis, Measles |
| Pertussis | aka: whooping cough; URI infx dt Bordetella pertussis; "whooping sound" when pt breathes in; vaccine has reduced deaths from 5-10,000/yr to <30 |
| Pertussis: Signs and Symptoms | first sx are similar to common cold (runny nose, sneezing, mild cough, low-grade fever) |
| Clinical course of Pertussis | after 1-2wks (dry irritating cough evolves into coughing spells >1min and child may turn red/purple; at end of spell child makes "whoop" sound when breathing in or may vomit; btw spells child feels well; Younger children may just gasp and look red |
| Atypical Pertussis | adults and adolescents may have milder symptoms, such as prolonged cough w/o spells or whoop...the effect of the vaccine doesn't last forever |
| Measles (Rubeola) | 1st symptoms: Irritability, runny nose, red light-sensitive eyes, hacking cough, fever upto 105F, Koplik's spots in mouth BEFORE best known sign: skin rash; worry about meningitis and febrile seizures |
| Complications of Measles | Croup, bronchitis/bronchiolitis, pneumonia, conjunctivitis, myocarditis, hepatitis, encephalitis; inc susceptability to bacterial ear infxn or pneumonias; More severe in adults |
| Measles Stages | incubation (10-12 days); Prodomal (2-4 days w/small vesicle Koplik spots); Final (Maculopapular rash...kids start to feel better) |
| Measles/Rubeola 3Cs | Conjunctiva (inflammation & photophobia), Coryza (thick nasal discharge); Cough |
| Measles: Contagiousness | 90% of nonimmunized will get it; airborne spread; contagious from 5days after exposure to 5 days after rash appears; the quicker the detection, the faster resolution of pt to stop spread |
| How are URIs (flu, RSV, SARS) spread? | coughing, sneezing, unclean hands |
| Acute Otitis Media | 80% of kids have one b/f 3yo; mc btw 6mo and 3yrs dt lack of immunologic factors (pneumococcal Ab) & anatomic angle of tube; landmarks on tympanic membrane are obliterated (red doesn't indicate infxn) you must see bulging membrane and blurred landmarks!! |
| AOM Pathophysiology | usu complication of viral URI; secretions/inflam occlude eustachian tubes; effusion of middle ear allows growth; may perforate membrane or extend into mastoid air cells |
| Kids with chronic otitis media and allergies | may have runny nose and gastric acid secretion (H1 and H2 responses) |
| Presentation of AOM | earache, fever (not required for Dx); accompanying/preceding URI, dec hearing; In infants (they may be asymptomatic w/irritability as only sign); Serous OM (asymptomatic, dec hearing on audiometry) |
| Conjunctivitis and AOM | close association btw bacterial infxn of both these locations; examine tympanic membrane if conjunctiva has purulent exudate; (sinusitis and purulent rhinitis frequently accompany AOM in infants/children) |
| Microbes causing AOM | Pneumococcus sp., H. influenzae, Moraxella sp; (less common = Mycoplasma, viruses); 20% have sterile effusions |
| Risk factors for AOM | daycare, bottle-feeding, smoking in home, male sex is predeterminant, fam Hx of middle ear disease, AOM in first year of life is risk factor for recurrent episodes |
| Tx for AOM | infants <6mo (antibiotics); 6mo - 2yo (antibiotics w/diagnosis, otherwise observation); Kids >2yo (antibiotics for certain infxn, or observe) |
| Where are the sinuses? | frontal, maxillary, ethmoid, mastoid |
| Sinusitis | inflam/infxn of 1+ paranasal sinuses w/obstruction of normal drainage; acute (<3wks), subacute (3wks - 3mo); chronic (>3mo) |
| Frequency of sinusitis | 30million pts in US; URI is most common presenting signs in ED; viral a/w common cold is most frequent cause; difficult to differentiate from allergic rhinitis and simple URI |
| Sinusitis and age | 5-10% of URIs kids; 10% of URIs in adults; rare in children <1yo b/c sinuses are poorly developed |
| Presentation of sinusitis | nonspecific; nasal congestion, purulent drainage, facial pain, HA; pain made worse w/forward positioning (retro-orbital pain if ethmoid siuns is involved); dental pain, alteration in smell |
| Pediatric presentation of sinusitis | URI for 5-7days; by day 10 rhinoviral infxn impoves and worsening symptoms may indicate developing bacterial sinusitis; daytime cough and persistant nasal discharge (rare to have facial pain/HA in kids) |
| Causes of Acute Sinusitis | bacterial: H. influenzae, S. pneumoniae (children: M. catarrhalis or S. aureus) |
| Sinusitis: Imaging | Xrays (40% false-positives; mucosal thickening or air fluid levels may be seen); **CT (very sensitive; may overdiagnose; can't distinguish viral from bacterial); MRI (shows intracranial spread, not as good as CT for dx of acute cases) |
| Sinusitis: Treatments | block inflammatory rxns; antibiotics to kill |
| Allergic Rhinitis | seasonal symptoms, clear, watery anterior and posterior nasal discharge, sneezing, itchy eyes/nose |
| Viral URI | dry mucosa of nose/throat, malaise, myalgias, occasional fever/chills |
| Treatment for sinusitis, allergic rhinitis, viral URI | may get immediate relief from decongestant; wam compress to face; antihistamines, NSAIDs; antibiotic of choice; nasal spray (ex; Afrin); drink fluids; use humidifier/vaporizer to keep secretions moist; (return to Dr w/high fever, visual,vomit, lethargy) |
| ENT consultation for: | all pts w/suspected CNS invasion or fungal infxns; consider for pts w/subacute or chronic sinusitis |
| Complications of Acute Sinusitis | **intracranial extension resulting in septic cavernous thrombosis (eye buldging out);** chronic sinusitis, osteomyelitis, orbital cellulitis |
| Pharyngitis: Signs and symptoms | sore throat, fever, HA, GI disturbance, pain on swallowing; neck hurts on sides or in front |
| Pharyngitis: Causative agents | Group A beta hemolytic strep; Group C strep...and a whole bunch of weird ones |
| Herpangina | caused by Coxsackievirus pharyngitis; small vesicles 1-2mm w/punched out ulcers in posterior pharynx; painful sore throat, fever, dec appetite; can travel down GI causing gastroenteritis |
| Scarlett Fever | caused by GAS (strep pyrogenic exotoxins: **SPE-A**, B, C); erythematous sandpaper rash in axilla/cubital/popliteal/inguinal folds; sore throat; cervical lymphadenopathy (rash comes and sore throat goes; rash peels skin off fingers like glove) |
| Epstein Barr Virus | a/w infectious mononucleosis (90%); fatigue, sore throat, generalized lymphadenopathy |
| EBV (mono): Signs and Symptons | sore throat, tonsillar enlargement, exudates on tonsils, lymphadenopathy, splenomegaly, hepatomegaly (mild hepatitis), malaise, fever, nausea, abdominal pain, myalgia |
| Tests for EBV: | Heterophile antibody test (mono spot test, sheep RBC agglutination); EBV antibody profile (IgA, IgM/IgG (acute phase) |
| EBV and Cancer | Burkitt lymphoma (in african blacks); Nasopharyngeal carcinoma (southern chinese; San Fran/NY populations) |
| Croup | URI; Sx worsen at night w/agitation and crying; barky cough (sounds like seal); horseness, inspiratory stridor, rhinorrhea, pharyngitis, fever; recovery in 3days; MANAGE airway (prefer sitting up in bed)! |
| Epiglottitis: causative agents | usu 2-4 year olds; dt H. influenzae, Strep pyogenes, S. pneumoniae, Staph aureus |
| Epiglotittis: Symptoms | high fever, sore throat, dyspnea, rapid progression of respiratory obstruction (drooling, hyperextension of neck, tripoding, cyanosis) |
| Epiglottitis: Treatment | intubation, tracheotomy if necessary, antibiotics, respiratory support |
| Pyloric Stenosis | most common intestinal obstruction in infancy; secondary to hypertrophy and hyperplasia of muscular layers of pylorus dt genetic and environmental factos; 4x more common in esp in 1st born males; presents w/projectile curdled vomit by 5months of life |
| Pyloric Stenosis: Pathophysiology | hypertropy/hyperplasia of circular/longitudinal pyloric muscle layers; narrowing of gastric antrum; long/thick/edematous pyloric canal makes stomach dilated |
| Pyloric Stenosis: Physical Findings | epigastric distention w/ an "olive"; visible gastric peristalsis; diminished stool; poor skin turgor (dehydration); depressed fontanelles, dry membranes, dec tears, lethargy |
| Pyloric Stenosis: Imaging | not needed if clinical presentation and olive are diagnostic; ultrasound is best b/c non-invasive; Upper GI imaging (UGI) - if ultrasound is nondiagnostic |
| Pyloric Stenosis: surgical repair | Rammstedt pyloromyotomy - reapproximate seromuscular layers |
| Biliary Atresia | failure of fetus to develop adequate path for bile to drain from liver to intestine; mc lethal liver disease in kids (1/10-15,000 live births); 50% of all liver transplants done for this reason! |
| Biliary Atresia: Diagnosis | persistant jaundice >14days w/clay-colored stool; blood tests confirm dx |
| Biliary Atresia: Treatment | Surgery is the only option; Liver transplantation, rerouting of biliary system (Kasai portoenterostomy) |
| Types of Biliary Atresia | Type 1 (3%; limited to common bile duct); Type 2 (6%; cyst in liver hilum communicating w/"hairy" intrahepatic bile ducts); Type 3 (19%; gallbladder, cystic duct and common bile duct patent); ***Type 4 (72%; complete extrahepatic biliary atresia)*** |
| Alpha-1 anti-trypsin deficiency | 2nd mc cause of liver transplantation in infants; genetic deficiency of protease inhibitor; needed for lung fxn; deficiency causes dyspnea, liver damage (hepatitis, cirrhosis) |
| Alpha-1 anti-trypsin Deficiency: Signs and Symptoms | SOB during daily activity; liver disease presents early in life as hepatitis or neonatal jaundice; Can also present later in life as cirrhosis (scarring of liver) and primary cancer (hepatoma) |
| A-1ATD: Treatment | liver transplant; protect lungs from effects of disorder (receive vaccines for flu/pneumonia, avoid respiratory irritants; stay fit w/regular exercise); take alpha-1 antitrypsin replacement therapy |
| Duodenum atresia | complete obliteration of duodenal lumen; failure to recanalize after development of hepatobiliary system; 50% born prematurely; polyhydraminos present in 40%; a/w trisomy 21 |
| Congenital duodenal obstruction | duodenal atresia 40-60%, duodenal webs 35-45%, annular pancreas 10-30%; duodenal stenosis 7%-20% |
| Duodenal atresia: Morbidity/mortality | if left untreated, condition is rapidly fatal dt electrolyte loss and fluid imbalance |
| Duodenal Atresia: Preferred Exam | plain radiographs that show "double-bouble" appearance w/no distal gas are characteristic of atresia; distal bowel gas indicates stenosis, incomplete membrane or hepatopancreatic ductal anomaly; (ultrasound preferred if in combo w/esophageal atresia) |
| Esophageal Atresia | esophagus terminates in a blind pouch |
| Tracheal Esophageal Fistula | abnml connection in one or more places btw the esophagus and the trachea |
| EA and TEF | frequently occur in combination; 1/3-5,000 babies born with one or the other; 50% w/TE have another birth defect |
| TEF Symptoms | frothy white bubbles in mouth; coughing/choking when feeding; vomiting; blue color of skin (esp when feeding); difficulty breathing; very round/full abdomen |
| EA and TEF: Types | Most common: EA with distal TEF (86%); Pure atresia of esophagus; EA w/ proximal TEF; H-type fistula; EA w/proximal and distal TEF (very rare) |
| EA and TEF: CXR Findings | air-filled pouch representing prox esophagus; distention causes anterior displacement of trachea; air in GI tract indicates a distal TEF; insertion of feeding tube results in looping of tub in the proximal pouch |
| TEF: Presentation | 1st sign is excessive neonatal drooling; regurgitation, choking, cyanosis upon feeding; overflow of pharyngeal secretions into trachea results in noisy breathing and progressive respiratory distress; mech ventilation may cause gastric rupture |
| Intussusception | the leading proximal segment of bowel (intussuceptum) telescopes into the distal colon segment (intussuscipens); most common cause of intestinal blockage btw ages 3mo and 6yrs; Ileocolic (sm bowel into colon) is most common; 1-4/1000 live births M3x>F |
| Intussusception: Pathology | there may be a leading edge in the form of a polyp, inverted appendiceal stump, Meckel's diverticulum or tumor that gets caught in downstream peristalsis and is pulled into distal bowel; (viruses thought to induce hyperplasia of Peyer's patches in ileum) |
| Intussuseption: Outcome | mesentery is compressed; bowel wall swells and leads to obstruction; venous engorgement and ischemia of intestinal mucosa causes bleeding and mucous flow resulting in "red currant jelly" stools |
| Intussusception: Morbidity/Mortality | most recover if treated in 24hrs; if untreated death can occur in 2-5days; recurrence in up to 11% (usu if reduced by contrast edema) |
| Intussusception: History | previously healthy boy 6-12mo w/sudden onset of colicky abdominal pain/vomiting 10-20min apart; loos watery stools w/vomit, and w/in 24hrs blood or mucous passed rectally; **TRIAD: Colicky abdominal pain, Vomiting, Red Currant Jelly Stools (21%)** |
| Intussuception: Physical | abdomen soft and nontender early, but distended and tender later; vertical oriented mass in URQ; 50% have red current jelly stools; 75% w/o obvious blood in stools test positive for occult blood; fever is late finding suggestive of enteric sepsis |
| Intussusception: Imaging | contrast enema; plain Xray (will be normal early on), **ultrasound useful in diagnosing |
| Abused child | suspected abuse, establish dx, treat injuries, address safety issues, report to agencies, document findings, recommend follow-up treatment; **ensure safety of child |
| Child Abuse: Pathophysiology | overlapping categories: physical, sexual, phychological abuse and neglect; each has unique characteristics and requires individual approaches to diagnosis and managment |
| Physical abuse | viewed as a spectrum of injuries; inflicted minor bruises/lacerations to severe multisystem trauma and death; (hitting, punching, biting, beating, kicking, shaking, burning, etc; may be from physical punishment); intent of abuser is not relevant to Dx |
| Frequency of Child Abuse | >3million reports made each year to child protective services; 1.4 million kids victimized/yr; 160,000 suffer from serious or life-threatening injuries; ~1200 children die each year from abusive injuries or neglect |
| Morbidity and mortality of Child Abuse | obvious physical sequelae (death, traumatic brain injury, disfigurement); long-term mental health consequences (violence, criminal behavior, substance abuse, self-injurous, suicidal, depression, anxiety, others; can abuse own children later in life) |
| Child Abuse: Race/Sex/Age | affects children of all ethnic grps in all socioeconomic statuses; although female victims are more commonly reported for sexual abuse there is no sex predominence; abuse can occur at any age |
| Child abuse age pattern | Infants (more vulnerable to fatal head trauma); Toddlers (more vulnerable to fatal abdominal trauma); school aged children (abuse usually decreases); adolescents (abuse increases) |
| Important concepts for interviewing about child abuse | interview everyone separately, including kids; use open-ended, non-leading questions esp w/younger kids; inquire about physical abuse, sexual abuse, domestic violence and witnessed abuse |
| Historical characteristics of abusive injuries | unexplaind or poorly explained injuries; injuries compatable w/stated history; changing history; significant delay in seeking treatment |
| Presentation of physical abuse | usu an obvious injury; it is not uncommon though to see abused child present w/symptoms of occult injury (ex: head or abdominal trauma) |
| Shaken Baby Syndrome | infant head injury symptoms (lethargy, irritability, persistant unexplained vomiting, apnea, coma, convulsions) |
| Abdominal trauma in child abuse | Symptoms are secondary to perforation, obstruction or bleeding (vomiting, pain, tenderness, shock, sepsis) |
| Physical characteristics of abusive injuries | injuries in various stages of healing; multiplanar injuries (back and front, left and right side together); injuries w/obvious pattern from hand or object; assault-like locations (trunk, upper arms/legs, neck, face, perineal area); whip/belt marks |
| Typical bruising patterns for ambulating children | knees, shins, forearms, forehead and chin, bony prominences (elbow, hips, spine) |
| Child Abuse: Burns/Scalding | can be from iron, cigarette, ***hot water emersion (not accidental - typically bilateral and symmetrical w/well-demarcated lines w/o splash marks); Differentiate inflicted burns from impetigo (a superficial yellow-crustlesion w/satellite lesions) |
| Child Abuse: Fractures | 30% of childhood fractures are inflicted; in children <1yo, 75% of fractures are inflicted |
| Abuse Fracture Categories: Highly specific | metaphyseal fractures (bucket handle); posterior rib fx, scapular fx, SP fx, sternal fx |
| Abuse Fracture Categories: Moderately specific | multiple fractures (esp if bilat); fx of different ages; epiphyseal separations; vertebral body fx; digital fx; complex skull fx |
| Abuse Fracture Categories: Common, low-specificity | clavicle fx, long bone shaft fx, linear skull fx |
| Moderate and low specificity fx become highly specific when: | a credible hx of accidental trauma is absent, esp in infants |
| Child Abuse: Inflicted Head Trauma | subgaleal hematomas, skull fx, subarachnoid hemorrhages, subdural hematomas, parenchymal brain injuries; unexplained severe diffuse brain trauma can be presumed inflicted (*epidural hematomas usu from accidental falls) |
| Presentaion of abused head injuries | acute critical illness at time of presentation (unresponsiveness, apnea, bradycardia, seizures, cardiopulmonary arrest); Subtle subacute or chronic symptoms (vomiting, lethargy, irritability, inc head circumference); there may be no visible trauma |
| Shaken baby syndrome | usu dt violent shaking & impact of head on fixed surface (**retinal hemorrhages, intracranial trauma (**subdural hemorrhage), diffuse axonal injury, secondary cerebral edema, fx of post/anterolateral ribs or metaphyses of tibia/humerus) |
| Shock in abused children | usu dt occult blood loss, dehydration, toxins, CNS dysfxn, external loss from lacerations/burns or infxn (ex: ruptured small bowel resulting in peritonitis) |
| Opthalmic Traumas: Hyphema | can be caused by the receptacles end of an extension cord used as a whip to strike the eye |
| Head Trauma: Extracranial bleeds | dt hairpulling; tearing of superficial temporals |
| Causes of Child Abuse | combo of factors (individual, family, social; triggered by caring for high-risk child esp if mentally, tempormentally or behaviorally difficult); poverty, unemployment, excessive mobility, isolation, domestic violence, attachment prob, bad parenting skill |
| Parent stressors causing child abuse | low self-esteem, abused as kids themselves, depression, substance abuse, character disorders, unrealistic expectations of child |
| Child abuse triggering situations | discipline, argument/family conflict; substance abuse; acute envirnomental problems |
| Child Abuse DOA vs SIDS | SIDS is a diagnosis of exclusion, requiring a complete autopsy and death scene investigation; you must involve expeditious consultation w/child protective services; don't acuse parents |
| When a practitioner suspects child abuse: | report immediately to state agency before child is discharged; notify parents that a report has been filed (exception to this rule is if cargiver may flee w/o child or cause significant disruption) |
| Child Abuse: Sexual - physical complaints | foreign bodies; GU pain, painful defecation/urination, discharge/bleeding/itching, vaginal-anal fistula, grasp or rope marks, oral complaints, STDs, possible pregnacy; General somatic complaints (HA, abdominal pain, constip, diarrhea, fatigue), incest |
| Child Neglect and Phsychosocial Short Stature (PSS) | disorder of growth failure and/or delayed puberty a/w emotional deprivation and/or a pathologic phychosocial environment; a disturbed relationship btw child and caretaker usu exists |
| Child Neglect Problems | psychosocial short stature, developmental delay, dwarfism, FTT, underweight, undernourished, starvation |
| Type I PSS | onset in infancy; FTT, no bizarre behavior; pts depressed; normal GH secretion; no Hx of parental rejection |
| Type II PSS | onset at 3yrs or older; some have FTT; bizarre behaviors and depression; dec/absent GH secretion w/minimal responsiveness to GH; Hx of parental rejection or pathology |
| Type III PSS | onset in infancy or older; No FTT; No bizarre behavior; GH secretion is normal w/significant response to GH; No hx of parental rejection |
| Psychosocial Dwarfism | bizarre behaviors (centered on food and water acquisition despite seemingly adequate caloric/food intake); hoarding food, gorging, vomiting, eating from garbage bin, drinking from toilet, stealing food; Sleep disturbances (insomnia, night wandering) |
| Psychosocial Dwarfism: abnormal behaviors and developmental delay | withdrawal, apathy, anxiety, irritablity, temper tantrums, shyness, accident prone, self-injury; speech retardation, congnitive retardation, psychomotor retardation |
| Type II PSS | abnormal endocrine function present; It will NORMALIZE if child is removed from unsafe/non-nurturing environment; malnutrition/inadequate caloric intake is not only reason for growth failure; Steatorrhea is common, though; Dx is made after child moves |
| Emotional Neglect | child may have dull "vacant" stare and signs of poor hygiene, pallor suggestive of anemia |
| SCAN: Morbidity and Mortality | abuse and neglect account for 5-14% of all child deaths; 1400 fatalities/yr w/43% in kids <1yr; SBS is leading cause of death in kids <4yrs; All 50 states have mandatory reporting for child abuse! |
| Tanner Stages of Male Puberty | Pubic Hair (none, scant, coarse, adult); Penis (preadolescent, slight enlargement, inc length, inc breadth, adult); Testes (preadolescent, slight growth, further, further, adult) |
| Tanner Stages for Female Puberty | Breast (no breast tissue, breast bud, enlargement, separation of areola/nipple from breast contour, adult w/only nipple raised); Pubic hair (none, sparse, curly, thick, adult inverted triangle) |
| Male Puberty | document Tanner stages 1-5; 1st change w/testes ~11yo; Growth sput a/w Tanner 4 ~14yo (4in.&20lbs/yr); spermarch, acne, axillary sweat, facial hair voice change all completed btw 14.5 and 18yrs |
| Female Puberty | thelarche (breast buds) ~10; Growth spurt ~12 bf menarche (3in,&17.5lbs/yr); acne, sweat, axillary hair, full development btw 12.5 and 18 |
| Menarche | on average occurs at 12.7, black girls are earlier, great variability can start before 10 or as late as 15+; Overweight girls start earlier; Thin athletes later; Genetics play role...when did mom start? |
| Growth after first period | menses usu signals near completion of pubertal spurt; most girls only grow 1-4 in after first period (early maturing girls have more growth left at menarche than late-matureing girls) |
| Delayed Puberty | can be dt constinution delay or Gonadodysfunction (Males - Kleinfelter; Female - Turner) |
| Constitutional Delay | usu normal size at birth w/dec height/wt velocity in 3-6mo until 2-3 yrs; During childhood they grow along lower percentiles on growth curve below 3rd percentile |
| Constitutional Delay and Puberty | dt timing of onset puberty, pubertal growth spurt and epiphyseal fusion are determined by a child's skeletal age (biologica age); these kids are "late bloomers" |
| Constitutional Delay and Skeletal age | determined from xrays of left hand/wrist is usu delayed 2-4yrs by late childhood (consistant w/child's height not chronological age) |
| Kleinfelter Syndrome | 47, XXY; mc chrom disorder a/w male hypogonadism and infertility; enlarged breasts, sparse facial/body hair, small testes, no sperm; 1/500-1000; 5-20x higher in MR; |
| Kleinfelter: Symptoms | usu diagnosed in adulthood dt hypogonadism and gynecomastia (fatigue, weakness, erectile dysfxn, osteoporosis, language impairment, academic difficulty, subnormal libido, poor self-esteem, behavior problems |
| Kleinfelter: Growth | normal through childhood; height velocity inc by age 5, adult height is usu taller than average w/long arms and legs; (variants w/49, XXXXXY are short) |
| Klinefelter: CNS | usu normal intellegence; MR is a/w # of Xs; 70% minor dev delays/learning disabilities; behavioral probs dt poor self-esteem & psychosocial dev or dec ability to deal w/stress; psychiatric disorders (anxiety, depression, neurosis, psychosis >>> gen pop) |
| Klinefelter: Sexual Characteristics | lack of 2* characteristics dt dec androgen production (sparse body hair, high voice, female fat distribution); 50% w/gynecomastia in late puberty (elevated estradiol; inc risk for breast carcinoma); Testicular dysgenesis; Infertile (inc extragonad tumors) |
| Klinefelter: Cardiac and Circulatory Problems | mitral valve prolapse in 55%; vericose veins 20-40%; venous ulcers 10-20x > normal, risk of DVT and pulmonary embolisms |
| Klinefelter: Variants | inc #s of Xs inc MR and dec growth stature |
| Klinefelter: causes | 50-60% dt maternal nondisjunction (75% meiosis I errors); Most common karyotye is 47, XXY; mosaicism is observed 46XY, 47XXY in 10%; others have up to 49XXXXY and are rare |
| Turner Syndrome | >95% of adult women w/this chromosome abnormality exhibit short stature and infertility; dt 45X karypotype (mostly no paternal X); 46XXiq; mosaics; 1/2000 live births (15% of spontaneous abortions are 45X) |
| Leri-Weill Dyschondrosteosis | dt deletion of SHOX gene; causes similar skeletal phenotype to Turner's syndrome |
| Turner Syndrome: Morbidity/Mortality | inc in neonatal period dt coarctation of aorta and in adulthood dt CV disease (aortic dissection); Obesity a/w diabetes, hypertension; Life expectancy reduced by 10yrs; Osteoporosis; Renal and UTIs; Prophylax for subacute bacterial enteritis |
| Noonan Syndrome | normal karyotypes; looks similar to Turner; unusual facies (hypertelorism, down-slanting eyes, webbed neck); 50% congenital heart disease, short, chest deformity; 25% MR |
| Primary Amenorrhea | absence of menses by 14 w/no secondayr sex traits OR no period w/normal secondary sex traits by 16 |
| Secondary Amenorrhea | cessation of menstruation for >6months or for at least 3 of th previous 3 cycle intervals |
| Dx a/w Primary Amenorrhea | vaginal agenesis, androgen insensitivity syndrome (10%), Turner syndrome |
| Androgen Insensitivity Syndrome | X-linked recessive; failure of normal masculinization of external genitals in chromosomally male babies; complete vs partial depends on residual receptor fxn |
| Androgen Insensitivity Syndrome: Pathophysiology | loss of function mutation of androgen receptor (AR) gene; There are still normal androgen levels, but postreceptor events don't happen (lack of pubic/axillary hair, acne, voice change at puberty) |
| AIS: Morbidity and Mortality | risk for gonadoblastoma of testes; psychological morbidity esp phenotypic females who discover they are males have psychosocial probs w/gender perception even in medical field |
| AIS: Sex vs Gender | most have female gender due to assignment and upbringing before diagnosis is made |
| AIS: Presentation | inguinal masses that turn out to be testes during surgery; clitoral enlargement at puberty; Pelvic ultrasound is useful |
| AIS: Lab | karyotype; levels of DHT, testosterone, DHEA |
| AIS: Treatment | Hormone replacement therapy and Psychological support; Surgical care is controversial (remove testes; vaginal lengthening, breasts) |
| Precocious Puberty | onset of 2* sex traits bf 8yrs in girls and 9yrs in boys; Gonadotropin-dependent (true or central Precocious puberty) vs. Gonadotropin-Independent (peripheral precocious puberty of precocious pseudopuberty) |
| True Precocious Puberty | isosexual and stem from hypothalamus-pituitary-gonadal activation; Gonadotropin mediated inc in size and activity of gonads leads to sec hormone secretion and progressive maturation |
| Precocious Pseudopuberty | some 2* sex traits appear w/o activation of hypothalamus-pituitary-gonadal axis; may be isosexual or heterosexual (contrasexual) |
| Problems a/w Precocious Puberty | early growth spurt and rapid bone maturation cause short adult stature; appearance of breasts/menses and inc libido may cause emotional distress in some kids |
| Premature Thelarche and Adrenarche | more common than "true PP;" These are isolated breast development bf 3yo and pubic hair bf 7-8yo |
| Premature Pubarche | pubic and/or axillary hair and odor w/o other signs of puberty bf 7 in whites/6 in blacks; **signs of severe androgen excess: clitoral enlargement, growth & acne may lead to dx of congen adrenal hyperplasia); exposure to exog sex hormones? |
| Congenital Percocious Puberty: Tx | GnRH agonists; follow up to ensure that puberty progression is arrested; monitor bone age |
| Congenital Percocious Puberty: Prognosis | w/treatment there is significant height improvement |
| CPP: Rx - GnRH agonists | long-acting synthetic derivatives of GnRH suppress pituitary production of gonadotropins |
| CPP: Rx - Leuprolide acetate (Lupron, Lupron Depot-Ped) | suppress ovarian and testicular steroidogenesis by dec LH and FSH levels; stop treatment at age 10 |
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bscaryp