Endo/Allergy/Immuno Flashcards

Question

What defines micropenis?

Answer 1

1. Is it a virilized 46XX or undervirilized 46 XY or mosaicism? 2. Are the gonads palpable? 3. Karyotype 4. Ultrasounds 5. Exclude lifethreatening CAH

Answer 2

1. CAH 2. Virilizing maternal disease 3. Maternal androgen use 4. Mixed gonadal dysgenesis Basic labs: 17 OHP lytes, glucose, ACTH, renin, tesosterone, LH, FSH

Answer 3

1. Reduced testosterone production 2. Abnormal testicular development 3. Testosterone biosynthetic defect 4. 5 alpha reductase deficiency 5. Androgen receptor disorder Labs: Testosterone, dihydrotestosterone, LH, FSH, Mullerian inhibiting substance, lytes, glucose

Answer 4

``` Exclusively breastfed Moms with Vit D deficiency Not exposed to enough sunlight Darker skin Northern communitities ```

Answer 5

2 4-6 10-14

Answer 6

Destruction of the beta cells of the pancreas | 80% must be destroyed to affect glycemic control

Answer 7

Random >11.1 | Fasting >7

Answer 8

DKA- If ketones give 10-20% of TDD until no ketones Hypoglycemia-

Answer 9

``` ASsociated autoimmune disorders Growth Retinopathy- 10Y then Q3-5Y Nephropathy-10Y with DM>5Y annual urine microalbumin Neuroapthy Macrovascular ```

Answer 10

Glucose >11 | PH

Answer 11

Acteoacetic acid

Answer 12

NO because Bhydroxybuttrate doesn't react

Answer 13

Increased plasma osmolality H2O moved out of cells therefore diluted Osmotic diuresis therefore more free water loss

Answer 14

Osmotic diuresis and ketoacid load cause increased K excretion However movement out of the cells because of low pH Increased serum K but decreased total bodyK

Answer 15

0.05-0.1 units/kg/hour

Answer 16

``` AG normal pH > 7.3 HCO3 >15 Glucose >11 Tolerating PO intake ```

Answer 17

1. Cerebral edema 2. DVT 3. Aspiration 4. Arrhythmia 5. Increased amylase and lipase

Answer 18

Obesity Family history Racial background Puberty and conditions of insulin resistance

Answer 19

Fasting blood glucose at 10 year or puberty | Repeated Q2Y

Answer 20

Adrenal inner medulla

Answer 21

Adrenal outer cortical tissue: 1. Zona glomerulosa: Mineralocorticoids 2. Zona fasciculate: glucocorticoids 3. Zona reticularis: sex hormones

Answer 22

Regulated by RAS and K elvels | Maintenance of intravascular volume through conserving sodium and eliminating K/H

Answer 23

Sex determining region on Y chromosome | Early gonads are bipotential until 6-8 weeks

Answer 24

Testosterone from Leydig cells- directs formation of internal male urogential tract from WOlffian ducts Anti-Mullerian hormone from Sertoli cells- suppresses development of Mullerian ducts

Answer 25

More potent testosterone In the presence of DHT, will develop into male structures DHT made from test by 5 alpha reductase

Answer 26

Dexamethasone before 7-8 weeks to suppress fetal HPA before virilization 70% of female with have normal gentalia at birth DO an CVS 10-12 weeks or Amino at 14-18 weeks to determine if male or female. If male, d/c dex

Answer 27

1. Moon facies 2. Buffalo hump 3. Truncal obesity 4. Striae 5. HTN 6. Hyperglycemia 7. Masculinization 8. growth failure 9. Amenorhhea 10. Osteoporosis

Answer 28

``` Growth suppresion Myopathy AVN Osteopenia Immunosuppresion Peptic ulceration HTN Hyperlipidemia Cataracts Pseudotumor cerebri ```

Answer 29

T4 is critical to the myelinization of the CNS

Answer 30

``` Large posterior fontanelle Lethargy Hypotonia Hoarse cry Feeding problems Constipation Macroglossia Umbilical hernia Dry skin Hypothermia Prolonged jaundice ```

Answer 31

Primary: Adrenal gland abN Secondary: hypothalamic or pituitary dysfunction

Answer 32

``` Inherited: CAH, CAhypoplasia Autoimmune: APS Infectious: TB, Meingococcemia Trauma Adrenal hypoplasia Oatrogenic ```

Answer 33

``` Prolonged steroid use Tumor CNS trauma irradiation Infection Surgery ```

Answer 34

Primary: ACTH elevated, hyperpigmented, hypoNA, hyperK Secondary: ACTH low, no hyperpig, Isolated hypoNA HISTORY OF A CNS INSULT

Answer 35

21- Hydroxylase deficiency

Answer 36

``` High 5-Is Hyperparathyroidism Idiopathic: Williams Infantile: SubQ fat necrosis Infection:TB Infiltration: Malignancy, Sarcoid Ingestion Skeletal disorders ```

Answer 37

Chvostek sign: tapping on the parotid gland results in muscle spasm with movement of the upperlip (CH=cheek) Trousseau: spasm with blood pressure cuff

Answer 38

``` Nutritional -Vita D Renal insufficiency Nephrotic syndrome Hypoparathyroidism PseudohypoPTH ```

Answer 39

``` 1. Younger age Newly diagnosed More profound acidosis Attenuated rise in serum sodium Greater hypocapnia Increased BUN Bicarbonate therpay for acidosis Administrationof insulin in the first hour of therapy High volumes of fluid given during the first 4 hours ```

Answer 40

``` 2-6M Gram+/-/Mycobacteria CMV, EBV, Parainflu Candidia, PCP Sinopulmonary, FTT, Diarrhea Omenn syndrome, Disease post BCG, VZV vaccine ```

Answer 41

``` >6M (After MOms IGG is gone) Encapsulated organized Enterovirus Giardia, cryptosporidium Sinopulmonary, GI, Arthritis, Meningoencephalitis Autoimmunw, lymphoma ```

Answer 42

``` Early onset Staph, pseudonom, serratia Candidia, aspergillus Abscesses, mouth ulcers, Osteomye Delayed cord separation, poor wound healing ```

Answer 43

Any age Pneumococcal, Meningococcal Speticemia, meningitis Autoimmune

Answer 44

Four or more new ear infections in 1 year 2 or mroe serious sinus infections within 1 year 2 or moremonths on antibiotics with little effect Two or more pneumonias within 1 year Failure of an infant to gain weight or grow normally Recurrent deep skin or organ abscesses Persisten thursh in the mouth or fungal infections on the skin Need for IV antibiotics to clear infection Two or more deep seated infections including sepsis A family history of PID

Answer 45

Autoimmunity: cytopenia, colitis, arthritis FFT Eczema Delayed cord separation Reactions to live viral vaccines FHx: consanguinity, infantile deaths, Affected maternal uncles (Xlinked)

Answer 46

Number: Immunoglobulins, lymphocyte subsets (flow CD 19) | Vaccine response, Isohemagglutinin to blood groups

Answer 47

Number: Lymphocyte subsets (CD 4/8) Function: Lymphocyte proliferation, Adenosine deaminase and purine nceloside phosphorylase levels, TRECS

Answer 48

Number: neutrophil counts Function: NBT or NOBI CD11 CD18 measurement of adhension markers

Answer 49

Number: C1 esterase inhibitor levels, specific complement levels Function: Total hemolutic complement CH50, C1 esterase inhibitor function

Answer 50

Humoral/B cell

Answer 51

1. X linked agammaglobulinemia 2. Common variable immune deficiency 3. Transient hypogammaglobulinemia of infancy

Answer 52

-Caused by mutations in Bruton Tyosine Kinase Absent B cell s in peripheral blood No B cells= no lymphatic tissue (Tonsils and LN) No immunoglobulin production Males, 6-24 months Recurrent infections: sinopulmonary, otitis media, GI, arthritits, meningitis, sepsis Encaulsated bacteria No IGA,G,M No vaccine responses

Answer 53

``` Antibiotics for infecitons IVIG for lfie: monthly IV or weekly SC PFTs and chest CT: bronchiectasis Genetic confirmation of BTK mutuation Genetic counselling ```

Answer 54

Recurrent infecitons, autoimmunity, malignancy Will have lymphatic tissue Recurrrent bacterial and sinopulmonary infections Can have bronchiectasis Mycoplasma, enteroviruses, Giardiasis Autoimmunity in 20-25% Increased incidence of LYMPHOMA AND ALL CA Decreased IgG, vaccine response

Answer 55

Antibiotic treatment of infecitons IVIG for life Monitor for autoimmunity and malignancy

Answer 56

Present at 2-6M, Die by 1 year if not treated Mutation in gamma chain of IL2 receptor, X linked MEDICAL EMERGENCY Persistent, recurrent, severe infections FTT NO lymph nodes

Answer 57

Lymphopenia Severely reduced T cell numbers Absent response to vaccines

Answer 58

``` Aggressive antimicrobial therapy IVIG PCP PPX CMV negative irradiated products Strict protective isolation BMT ```

Answer 59

1. Thrombocytopenia 2. Eczema 3. Recurrent pyogenic infections X linked Watery/bloody diarrhea in first months Encapsulated organisms

Answer 60

1. Small, low numbers of plts 2. Low IgM, high IgA,Ige 3. Poor antibody responses to vaccines 4. Decreased T cell functions

Answer 61

IVIG Antibiotic PPX BMT

Answer 62

AR, ATM Gene Ataxia: Cerebellar, around 18 months, wheelchair bound by teenage Telangiectasia: face, conjunctiva, ear lobes, 2-4 years Progressive neurodegeneration Recurrent sinopulmonary infections and bronchiectasis

Answer 63

INcrease alpha FP Decreased T cell Absent IgA Decreased T cell function

Answer 64

Confirmation by gene sequencing Abnormal DNA repair: increased sensitivity to irradiation, try not to XR, CT 15% develop malignancy: lymphoma Supportive, NO BMT

Answer 65

``` CATCH 22 Cardiac defects: Ao arch Abnormal facial features (hooded eyelids, hypertelorism, low set ears, notched pinnae, micorgnathia, short philtrum, high arched palate) Thymic hypoplasia Cleft palate and midline abN Hypocalcemia 22q11 deletion FTT, DD, Psychiatric issues ```

Answer 66

Defect in NADPH oxidase: required for effective phaogocytic killing of certain pathogens 65% Xlinked, AR Susceptible to catalase positive pathogens: S aureus, aspergillus, nodcardia, serratia, burkholderia, salmonella Recurrent bacterial and fungal infections Abscesses and granulomas

Answer 67

Abnormal Nuetrophil oxidative burst index or Nitroblue tetrazolium test Aggresive antibiotics treatment for current infections PPX: bacteria and fungal Anti inflam BMT

Answer 68

Autosomal dominant in STAT3 Recurrent abscesses in skin, joints, lungs COLD BOILS Eczema, Coarse facial features Delayed shedding of teeth Bone fractures, scoliosis, joint hyperlaxity Rx infections, anti staph PPX

Answer 69

Deficiency in adhesion molecules: abnormal neutrophilmigration and penetration, remain inblood Delayed separation of umbilical cord Staph infections: dental, gingivitis, intestinal Neutrophilia, absent surface adhesion molescules: CD11, CD18

Answer 70

Autosomal recessive Defects in early: C1,C2,C4: rheumatic diseases, lupus, infection Defects in late: C5-9: invasive Nerissa and pneumoncoccal infections Antibiotic ppx and immunizations

Answer 71

Antibiotics Vaccinations IVIG BMT

Answer 72

Physiological nadir at 6 months Slow to increase, up to 6-12 years No need to treat

Answer 73

Anaphylaxis Food allergy Allergic rhinitis

Answer 74

Autoimmune cytopenias | Goodpasteurs

Answer 75

SLE Serum sickness Glomerulonephritits ``` ACID 1 Allergic (IgE) 2 Cytotoxic (hemolytic reaction) 3 Immune Complex (SLE, serum sickness) 4 Delayed (contact dermatitis) ```

Answer 76

Contact dermatitis | Psoarsis

Answer 77

Cutaneous 80-90% Respiratory 60-70% GI 50-60% Cardio 10-30%

Answer 78

Glucagon | Inotropic and chronotropic effects that are not mediated through beta receptors

Answer 79

4-6 hours Why? Biphasic reaction Recurrence of symptoms after initial resolution Risk: delayed epinephrine, more than dose of epi, severe symptoms

Answer 80

1. Epinephrine autoinjector 2. Anaphylaxis action plan 3. Consider 3 day course of antihistamines and steroids 4. Medical ID bracelet 5. Referral to an allergist 6. Avoidance of trigger if obvious

Answer 81

>25kg: Epipen 30 mg 10-25: 15 mg <10 kg: epipen jr or ampule of epi

Answer 82

Solutions containing proteins placed on skin, pricking allowing introduction into skin. Localized hive if sensitized Pro: Result in 15 min, more sensitive compared than seurm specific IgE, high negative predictive value, cost effective Cons: False +, affected by antihist and steriods, risk low of systemic reaction, not if atopic disease

Answer 83

Eg: Rast and ImmunoCAP -Allergen of interest bound to solid phase matrix Patients seurm added If IgE present against, will bind to allergen Fluorescence is measured (anti IgG labelled and will attach to IGE)

Answer 84

Pro: Not affected by antihistamines, steroids, montelukast, no risk of systemic reaction, can be performed if patient has skin disease Cons: False + if total IgE is elevated, less sensitive than SPT, more expensive than SPT

Answer 85

Oral food challenge | Gradual feeding of suspected food with careful supervision

Answer 86

Avoidance of responsible food EpiPen Anaphylasix action plan Medical ID bracelet

Answer 87

No dietary restrictions during pregnancy or breastfeeding Exclusive breastfeeding for the first 6 months Hydrolyzed formula if not breastfed DO NOT delay the introduction of any specific solid food including allergenic foods beyond 6 months Regular ingestion of newly introduced food

Answer 88

Exclusively BF infants 2-8 weeks Transfer of food protein ingested by mother through milk Cows milk protein, egg, soy, corn

Answer 89

1-4 weeks after introduction of food Cows milk, soy, grain, rice, meat, egg, potato, legums Repetitive vomting 1-3 hours after ingestion Skin testing and RAST not helpful Eliminate offending food

Answer 90

1. Local reactions 2. large local reactions 3. Systemic reactions

Answer 91

Administration of gradually increasing quantities of allergens until a dose is reached that is effective in inducing immunologic tolerance to allergens

Answer 92

Venom allergy Allergic rhinitis Allergic asthma Atopic dermatitis with aeroallergen sensitization

Answer 93

Antibiotics Anticonvulsants NSAIDS Radiocontrast media

Answer 94

IgE against a major determinant

Answer 95

Drug rash with eosinophilia and systemic symptoms 1-8 week onset Rash, fever, LN, facial angioedema, hepatic dysfunction, eosinophilia Drugs: sulfonamides, minocycline, allopurinol, anticonvulsants Systemic steriods in some

Answer 96

Onset 1-3 weeks Rash, fever, arthritis, renal disease Low complement Type III

Answer 97

``` Allergic shiners Dennnie Morgan lines Allergic salute Horizontal crease Allergic facies Enlarged pale nasal tubinates Cobblestoning in the psoterior oropharnyx ```

Answer 98

Immediate | IGe production against antigens with binding mast cells and release of inflammatory mediators

Answer 99

Antibody mediated | Antibodies against soluble antigens may form complexes which deposit in the vessels of tissues

Answer 100

Immediate | IGe production against antigens with binding mast cells and release of inflammatory mediators

Answer 101

Antibody mediated | Antibodies other than igE directed against cell of tissue antigens causing damage

Answer 102

Immune complex mediated | Antibodies against soluble antigens may form complexes which deposit in the blood vessels

Answer 103

T cell mediated | Reactions of T cell against self antigens

Answer 104

IgE response Potential allergens cause rapid expain of T helper type 2 cells that secrete cytokines IgE crosslink, breakdown of mast cells and basophils Leads to release of inflammatory mediators: proteases, prostaglandins, histamine and bradykinin

Answer 105

Penicillin metabolized into major and minor determinants. Skin testing with minor determinants is important in screening for anaphylaxis. Major determinants: accelerated and late reactions by IgE Minor determinants: anaphylaxis.

Answer 106

Bees: barbed stingers, die single sting. sting only when provoked Wasps: Do not have barbed stingers, sting multiple times. Aggressive and sting without provocation Ants: envenomate by anchoring their madibles into the skin and pivoting. Bite aggressively if nests disturbed

Answer 107

Hypersensitivity reaction to specific allergens occuring in sensitized patients mediated by IgE.

Answer 108

Intranasal steroids > 2 years old

Answer 109

Transient swelling of the dermis or subQ tissue | May occur with anaphylaxis or episodes of urticaria.

Answer 110

Type 1 80% Presents with recurrent swelling episodes, recurrent attackes of abdo pain and episodes of airway obstruction Low C1esterase inhibitor activity results in anbility to stop the completement cascase

Answer 111

1. Cross-linking of high affinity IgE receptors of the surgace mast cell sand basophils after binding IgE 2. Non IgE mediated direct activation of mast cells

Answer 112

1. Acute onset inless involving skin, mucosal or both with either resp compromise or hypotension 2. 2+ occuring rapidly after exposure to likely alelrgen: skin, rsp, hypoBP, Gi 3. Reduced BP after exposure to known allergen for that patient

Answer 113

Food 90% Milk, egg, soy, wheat, peanut, fish

Answer 114

SC: AR, allergic asthma, wasps SL: aeroallergens

Answer 115

H1 anatagonists: cetirizine (less sedating) H2 anatagonists Steroids Ventolin

Answer 116

Atopic dermatitis

Answer 117

Severely dry skin Itchy: scratching leads to inflammation Lichnification in flexural folds

Answer 118

Eczematous dermatitis Chronic and relapsing course Pruritis

Answer 119

``` Cutaneous hydration: lukewarm baths then emollient Topical steriods Topical calcineurin inhibits (tacrolimus) Antihistamines Systemic steriods Cyclosporine Phototherapy Avoidance of irritants and food triggers ```

Answer 120

Systemic immune-complex mediated hypersensitivity vasculitis | Type III hypersensitvity from Ab-Ag complexes

Answer 121

One of the most useful tests for B cell function Determines the presence and titer of isohemagglutinins Measures mostly IgM, may be absent in the first 2 years of life and are absent if patient is blood type AB

Answer 122

If test is positive (induration >10mm at 48 hour) all T cell defects are excluded

Answer 123

Innate: early line of defense, mediated by cells that are always present Adaptive: stimulated by microbes, fine specificity for substances and responds more effectively against each successive exposure to a microbe

Answer 124

Humoral: AB that neutralize and eradicate exracellular microbs and toxins Cell mediated: T cell seradicate intracellular microbes

Answer 125

Express membrane Ab that recognize antigens and effector B cells that secrete AB to neutralize and eliminate Ag

Answer 126

Recognize peptide fragments of protei antigens displayed. T cells activate phagocytes and B cells. Cytotic T cells kill infected cells harbouring microbes in their cytoplasm

Answer 127

Epithetial barrier Phagocytes lymphovytes Complement

Answer 128

microbe breaches endothelium, enters subendothial tissue Resident macrophages recognizes micro and produces cytokines TNS and IL1 act on endothelium of small vessels at the site of infection Endothelial cells display adhesion molecules E and P Circulating neutrophils and monocytes express carbs that bind weakly to selectins Blood flow disrupts and bonds reform downsteam (ROLLING) Leks express another adhesion molecules Increased affinity for inegrins for ligands on the epithelium Firm binding arrests rolling leukocytes Cytoskeleton reorganized and spreads out on the endothelial surface

Answer 129

Dendritic, macrophages, B cells Capure antigens and display them for recognition Produce signal for co-stimulation to ensure immune responses directed against microbes

Answer 130

Prodfound defect in B cell development resulting in severe hypogam in absence of circulating B cells

Answer 131

Small to absent tonsils, no palpable LN Boys remain well in first 6-9M because of maternal AB Then extracellular pyogenic organisms Sinusitis, OM, Pneumonia, sepsis, meningitis

Answer 132

Selective IgA deficiency

Answer 133

X linked recessive syndrome Atopic dermatitis, thrombocytopenia, ID Present infancy with rash, symptoms of low plts and inections Survival beyond teens is rare: die or infections, bleeding

Answer 134

Lethargy, poor feeding, constipation, poor weight gain, cold extremities, hoarse cry Hypotonia, slow reflexes, jaundice, mottling, distended abdo, acryocyanosis, coarse features, large fontanelle

Answer 135

Outcome directly related to time to treatment | IQ as outcome

Answer 136

Hashimoto thyroiditis | Chronic lymphocytic thyroiditis

Answer 137

Antithyroid medication Radioactive ablation Subtotal thyroidectomy

Answer 138

Thioamide deriatives: propylthiouracil and methimazole -Block synthesis of thyroid hormone Propranolol: beta adrenergic effects Steriods

Answer 139

``` Obesity (T2) Age of onset (T2 >puberty) Family History Acanthosis nigricans Hyperandrogenism Fasting insulin and C peptide (Low in T1, Hgh in T2) Islet cell antibodies (+ in T1) ```

Answer 140

fragile bones, blue sclerae, and early deafness

Answer 141

Pathogenesis: defective B cell production due to enzyme deficiency (tyrosine kinase)--> NO B CELLS = no antibodies (agammaglobulinemia) - X-linked = only affects males - at risk for: staph aureus, strep pneumo, H flu, pseudomonas, giardia, enterovirus Clinical features: 1. No lymphoid tissue! = small or absent tonsils & no palpable lymph nodes (that's because you need B cells to have lymph tissue) 2. Pyogenic bacterial infections of the resp tract, skin and joints (sinusitis, pneumonia, meningitis, etc.) 3. Enterovirus infections are severe and can be fatal 4. Risk of life threatening pseudomonas infections Diagnosis: 1. Immunoglobulin levels: will see low levels or completely absent 2. Bone marrow with absence of B cells on flow cytometry Treatment: 1. IVIG replacement monthly 2. Avoidance of live virus vaccines 3. Follow PFTs and CT chests since patients are prone to develop bronchiectasis

Answer 142

1. Chronic lung disease (need PFTs q1yr) | 2. Exposure to bloodborne pathogens

Answer 143

Diagnosis: serum IgA levels

Answer 144

1. Staph aureus 2. Strep pneumo 3. H. flu 4. Pseudomonas 5. Giardia

Answer 145

Occurs when the level of abs in one or more IgG subclasses (IgG1-4) is selectively decreased while total IgG levels are normal -recurrent upper resp tract infections

Answer 146

Hypogammaglobulinemia with phenotypically NORMAL B cells that fail to mature appropriately into antibody-producing plasma cells -no clear pattern of inheritance Clinical features: 1. recurrent bacterial infections (sinopulmonary, mycoplasma) and viral infections (enteroviruses) and parasitic infections (giardia) 2. Autoimmune manifestations: inflammatory bowel disease like picture: diarrhea, weight loss, malabsorption, cytopenias 3. Increased risk of malignancy: lymphoma and other malignancies Treatment: 1. IVIG replacement 2. May require immunosuppressive treatment for rheumatologic disorders 3. Monitor for malignancy!!

Answer 147

Failure of immunoglobulin isotype switching from IgM to IgG, IgA or IgE. - most commonly X-linked: defect in CD40 ligand gene thus, the T cell with CD40 ligand cannot bind to the B cell with CD40 receptor to trigger immunoglobulin isotype switching * **so in a way, you have both T cell and B cell dysfunction in X-linked Hyper IgM syndrome - thus patients have normal or high levels of IgM with low or absent levels of the other antibodies

Answer 148

1. Sinopulmonary infections 2. Opportunistic infections with PCP, cryptosporidium Treatment: IVIG replacement

Answer 149

Polysaccharide vaccines!

Answer 150

1. Humoral: - deficiency in antibodies = infections start after 6 months when maternal antibodies start to wane - infections with encapsulated bacteria - test: immunoglobulin levels, immune titres (antibody response to vaccines) 2. Cell mediated: difficulty with bacteria - fungal infections (especially aspergillus and candida) - unusually severe viral infections - pneumocystis, mycobacteria - test: lymphocyte count, T cell subsets (CD4, CD8) 3. Phagocytes: - CATALASE POSITIVE organisms (staph, nocardia, serratia, aspergillus, salmonella) - abscesses, skin infection - poor wound healing - test: CBC + diff, looking at WBC differential 4. Complement: - neisseria meningitidis and neisseria gonorrhea - sepsis with encapsulated bacteria - test: CH50 (total hemolytic component)

Answer 151

Given that they are both disorders of absent antibody production, will have similar infection susceptibilities. Thus, can differentiate by: 1. Agammaglobulinemia: see only in males (X-linked), NO lymphoid tissue, NO B cells on bone marrow, see more enterovirus infection than with CVID 2. CVID: see in both males and females, normal lymphoid tissue, normal B cells on bone marrow

Answer 152

1. Viral 2. Fungal 3. Intracellular infections ****disorders of T cell function also often result in B cell antibody production dysfunction because B cells need T cells to function properly = this is combined immunodeficiency

Answer 153

1. Lymphoma 2. Autoimmune disorders 3. Noncaseating granulomas of spleen, liver, lungs and skin

Answer 154

DiGeorge syndrome = caused by thymic hypoplasia (thymus makes T cells)

Answer 155

CATCH-22 - Cardiac defects: TOF most common - Abnormal facies: low set ears, hypertelorism, hypoplastic mandible, bowing of upper lip - Thymic hypoplasia & T cell immunodeficiency - Cleft palate - Hypoparathyroidism with subsequent hypocalcemia Diagnosis: genetic testing (FISH) for 22q11 deletion

Answer 156

IgA protects mucosal surfaces THUS are most susceptible to bacterial and viral infections involving mucosal surfaces such as: 1. Respiratory tract 2. Urinary tract 3. GI tract

Answer 157

1. Low lymphocyte count 2. Low immunoglobulin levels 3. Abnormal response to delayed type hypersensitivity testing (ie. TST) ***This reflects both B and T cell dysfunction since B cells depend on T cells to present antigens for antibody production

Answer 158

Severe combined immunodeficiency = severe T cell dysfunction and resultant B cell dysfunction - interitance: autosomal recessive (usually ADA = adenosine deaminase deficiency) and X-linked forms - present by 6 months of age with SEVERE immunodeficiency - most children die of infection during the first 2 years of life without intervention

Answer 159

1. FTT 2. Chronic diarrhea 3. Chronic candidiasis 4. Severe bacterial infection within 1st month of life 5. Infection with opportunistic organisms: PCP, cryptosporidium 6. Eczema (possibly from GVHD from engraftment of maternal lymphocytes) 7. Absent thymus/lymph nodes/tonsils

Answer 160

Graft versus host disease: from engrafted maternal T cells or from blood transfusions -THUS, should always be given irradiated blood products

Answer 161

1. Bone marrow transplant is curative - until BMT can occur, need to give IVIG replacement and PCP prophylaxis and avoid transfusions, no live vaccines ***Enzyme replacement therapy for patients with ADA deficiency can work BUT is not as good as BMT

Answer 162

1. Bloodwork: - normal IgM and IgG levels but DECREASED IgA and IgG2 - increased serum AFP****** 2. Definitive diagnosis with gene testing of ATM gene (ataxia-telangiectasia mutated) = DNA repair enzyme

Answer 163

Undiagnosed IgA deficiency = trace amounts of IgA in a blood product may trigger anaphylaxis in a patient who does not have IgA!

Answer 164

1. Staph aureus 2. Gram negative enteric bacteria: E coli, klebsiella, enterobacter, serratia, salmonella 3. Fungi: aspergillus, candida 4. Nocardia 5. Burkholderia

Answer 165

CGD: 1. Recurrent abscesses in lymph nodes, skin, liver, spleen and lungs 2. FTT 3. Granulomas in resp/GI/GU tracts - Pathogenesis: neutrophils lack oxidative burst that is needed for destruction of catalase positive bacteria and fungi - inheritance pattern: 2/3s are X linked, 1/3 are AR - diagnosis: nitroblue tetrazolium test or DHR-123 (flow cytometry test) - treatment: lifelong prophylaxis with septra (because of high risk of staph aureus infections), gamma interferon in severe cases, bone marrow transplant

Answer 166

Clinical features (due to abnormal neutrophil migration): 1. Coarse facial features 2. Eczema 3. Recurrent "cold boils" = no pain, heat or redness (most caused by staph aureus) and resp infections - Inheritance pattern: AD - Diagnosis: IgE > 20000 (not diagnostic) - Treatment: antistaph antimicrobial prophylaxis (Septra)

Answer 167

Clinical features (due to impaired natural kill cell function and chemotaxis): 1. Oculocutaneous albinism 2. Recurrent skin and resp tract infections 3. Almost all develop proliferative lymphoma like illness (typically fatal) - inheritance: AR - diagnosis: giant granules seen in neutrophils, eosinophils, granulocytes - treatment: BMT

Answer 168

Leukocyte adhesion deficiency (type 1)

Answer 169

1. Increased infection (pyogenic bacterial infections, encapsulated bacteria) 2. Angioedema 3. Autoimmune disorders (ie. glomerulonephritis - diagnosis: CH50 assay - inheritance: AR

Answer 170

IgA deficiency

Answer 171

Complement deficiency (late complement deficiency C5-C9)

Answer 172

Occurs when the level of abs in one or more IgG subclasses (IgG1-4) is selectively decreased while total IgG levels are normal -recurrent upper resp tract infections

Answer 173

Shwachman-Diamond syndrome

Answer 174

RAST = serum test that quantifies IgE level for a given antigen -compared to skin testing, RAST is less sensitive but is safer and not influenced by skin disease or medications (antihistamines)

Answer 175

Total body exposure to cold water results in extensive vasodilation, hypotension and death - diagnosis: place an ice cube on the patient's body x 10-15 minutes. If hives develop with rewarming the chilled area, diagnosis made. - warn patients NOT to swim or submerge themselves in cold water

Answer 176

Non-IgE mediated; instead they involve direct degranulation of mast cells - common triggers: IV contrast material, opioids - treatment: similar to anaphylaxis treatment

Answer 177

Immune complex-mediated disease that begins 1-3 wks after an allergic exposure (ie. medication) - antigen-antibody immune complexes deposit in small vessels and cause vasculitis - clinical manifestations: 1. Appear unwell 2. Fever 3. Rash 4. Arthralgias/myalgias 5. Abdominal cramping 6. Diarrhea - diagnosis: depressed C3 and C4 levels, peripheral blood smear with increased number of plasma cells, skin biopsy of lesion with immune complex formation - treatment: mild = NSAIDs/antihistamines. Severe = steroids x 7-10 d, plasmapheresis

Answer 178

In order to mount an allergic reaction, your body has to be previously exposed to the allergen in order for your body to have mounted antibodies to it (IgE). -if a child has an allergic reaction the "first" time they've eaten something, they've definitely been exposed to it before often without parents knowing (ie. hidden in other foods) OR through maternal breast milk

Answer 179

Gradual introduction of increasing amounts of allergen to decrease sensitization - consider in patients with insect venom sensitivity who have had anaphylaxis due to insect bite - NOT effective for food allergies

Answer 180

Typical sequence of IgE antibody development and disease evolution in allergic patients -Food allergies (early infancy) --> eczema (late infancy) --> asthma (early childhood) --> allergic rhinitis (late childhood)

Answer 181

SCID with ADA deficiency = autosomal recessive -50% of children have bony abnormalities in ADA-deficient SCID Hyper IgE

Answer 182

1. Pulmonary hemosiderosis (due to recurrent bleeding into the lungs) 2. GI bleeding 3. Iron deficiency anemia 4. FTT * **results from severe CMPA

Answer 183

Mitogen and antigen stimulation test | candida skin test is an old test

Answer 184

1. DiGeorge 2. Hyper IgE 3. Omenn (SCID) 4. Wiscott-Aldrich

Answer 185

1. Humoral or combined immunodeficiency with low or absent levels of IgG 2. Kawasaki 3. B cell chronic leukemia 4. HIV 5. ITP 6. GBS 7. Chronic inflammatory demyelinating polyradiculopathy 8. Graves Ophthalmopathy 9. CMV-induced pneumonia in solid organ transplants 10. TEN 11. Prophylaxis of infection post BMT

Answer 186

``` 11 mo (if high dose IVIG) 8 mo (if low dose IVIG) ```

Answer 187

1. Progressive ataxia 2. B and T cell deficiency 3. Telangiectasia not present at birth - treatment: supportive since bone marrow transplant is not possible (not tolerated well)

Answer 188

Autosomal dominant - C1 esterase deficiency - complement system is activated and cannot deactivate itself - clinical features: 1. Angioedema (non-pitting): self-resolves within 3 days 2. No pruritis/erythema/pain 3. Abdo pain = can be secondary to angioedema of bowel 4. Hoarseness and stridor due to airway edema

Answer 189

1. Medications: OCP 2. Pregnancy 3. Stress 4. Infection 5. Menstruation Aka being a lady

Answer 190

1. Concentrate of C1 esterase inhibitor | 2. Danazol: androgen

Answer 191

* 2nd generation antihistamiens * Can be increased to 4 fold dosing * Can add montelukast, cyclosporin, omalizumab (>12y) * Short course steroids for flare (max 10 days) but has rebound

Answer 192

Post-transplant lymphoproliferative disease = occurs as result of immunosuppression in patients who have undergone solid organ or allogeneic stem cell transplantation - 90-95% are associated with EBV proliferation in B cells due to suppressed T cells by immunosuppressants - this is a MALIGNANT condition! (20% of all patients) - treatment: reduction of immunosuppression, rituximab, chemotherapy, and radiation therapy

Answer 193

- 5 yo boy: hypogammaglobulinemia: low IgG, IgA, IgM, normal T cell function, normal parathyroid function - 8 mo boy: DiGeorge syndrome = normal immunoglobulins, decreased T cell function, decreased parathyroid function - 1 yo boy: Wiskott Aldrich = Normal IgG, High IgA, Low IgM, decreased T cell function, normal parathyroid function 4 mo: SCID = low IgG/IgA/IgM, decreased T cell function, normal parathyroid function

Answer 194

``` high IgE variable IgA (usually high) ```

Answer 195

By far: humoral deficiencies (65%) | -then combined (15%), then phagocytic (10%), then complement and cellular (5% each)

Answer 196

1. 4 or more new ear infections within 1 year 2. Two or more serious sinus infections within 1 year 3. Two or more months on abx with little effect 4. Two or more pneumonias within 1 year 5. FTT 6. Recurrent deep skin or organ abscesses 7. Persistent thrush in mouth or fungal infection on skin 8. Need for IV abx to clear infxns 9. Two or more deep seated infections including septicemia 10. Family history of immunodeficiency

Answer 197

- Humoral deficiency: 1. Immunoglobulins 2. Titres to vaccines (usually will show no response to prior vaccines) - Cellular deficiency: 1. CBC to look at lymphocytes 2. Intradermal skin testing with candida = will see no urticaria 3. Thymic biopsy - Phagocytic assessment: 1. Nitroblue tetrazolium 2. Neutrophil oxidative burse index - Complement assessment: 1. CH50 2. C1 esterase inhibitor levels

Answer 198

Answer: A This is DiGeorge! -ONLY give .live viral vaccines when immune competence has been demonstrated! ie. when T cells are evaluated and found to be at normal levels (normal = >1500)

Answer 199

ALPS = autoimmune cytopenias, lymphoproliferation in spleen, lymph nodes, - see elevated % of T cells not expressing CD4 or CD8 - increased risk of malignancy - management: immune suppression

Answer 200

- immune dysregulation, poly-endocrinopathy, enteropathy, X-linked disorder! (IPEX) - see severe colitis, cytopenias, polyendocrinopathy (usually neonatal insulin dependent diabetes), seen in males - treatment: immunosuppression and BMT

Answer 201

IPEX! Immune dysregulation, polyendocrinopathy, enteropathy, x linked

Answer 202

BONES AND ENDOCRINE: 1. Polyostic fibrous dysplasia 2. Cafe au lait spots (jagged edge "Coast of Maine" appearance) 3. Hyperthyroidism 4. Precocious puberty

Answer 203

1. Emesis 2. Emaciation 3. Euphoria Results from hypothalamic tumor Body is in catabolic state Child will want to eat a lot

Answer 204

1. Growth hormone 2. Insulin 3. Insulin Growth Factor -1 4. Cortisol 5. TSH 6. Androgens/estrogen

Answer 205

Pre-natal growth: insulin | Postnatal growth: GH

Answer 206

Most accurate - bone age | Least accurate - mid parental height

Answer 207

1. Constitutional delay 2. Chronic disease 3. Endocrine disease

Answer 208

Primary hypothyroidism (causes growth arrest)

Answer 209

Ketotic hypoglycemia: substrate (glucose) deficiency

Answer 210

IMMEDIATE initiation of thyroid hormone replacement (levothyroxine) -delay in therapy greater than 2 weeks of age can result in cognitive impairment

Answer 211

SMR stages: 1. Preadolescent 2. Sparse pubic hair, small mound of breast and papilla 3. Darker, increased pubic hair; enlarged breast and areola 4. Coarse, abundant pubic hair; areola and papilla form double mound 5. Adult feminine triangle, spread to medial surface of thighs; mature breasts, nipple projects

Answer 212

30% in stage 3, 90% by stage 4

Answer 213

Boys: stage 4 Girls: stage 3 **Remember that girls mature more quickly than boys!

Answer 214

1. No pubic hair, preadolescent penis and testes 2. Sparse pubic hair; minimal change in penis size, enlarged scrotum 3. Darker pubic hair, lengthening of penis, testes grow larger 4. Coarse, abundant pubic hair; glans and breadth of penis increase, increased size and darkening of scrotum 5. Adult distribution of pubic hair with spread to medial surface of thighs, adult size penis and testes

Answer 215

1. Follicular phase: begins with onset of menses --> results in mid cycle LH surge which induces ovulation from the follicle. Empty follicle then forms the corpus luteum initiating the luteal phase 2. Luteal phase: progesterone and estradiol are secreted from the corpus luteum maintaining the endometrial layer of the uterus. If pregnancy does not occur and there is no HCG to maintain the corpus luteum, it dies which results in withdrawal of progesterone and thus endometrium sloughs, giving you a period

Answer 216

Onset of puberty: 8-13 yo 1. Thelarche: onset of breast development (precedes pubarche by 6-12 mo) 2. Adrenarche --> Pubarche: onset of adrenal androgen production which leads to onset of sexual hair growth 3. Menarche: follows thelarche by 2-3 years Remember boobs, pubes, grow, flow **Growth spurt starts with early puberty and occurs over 2-3 years with peak height velocity achieved about 1 year before menarche

Answer 217

99% of growth is complete by 15 yo

Answer 218

Avg age of onset: 9-14 yo 1. Testicular enlargement: 1 yr before pubarche 2. Adrenarche/pubarche: from adrenocortical androgen production and gonadal activity 3. Pubertal growth spurt: occurs 2 years later in boys than girls and occurs during SMR pubic hair stages 3 and 4 4. Facial hair/voice change during SMR stage 4

Answer 219

99% of growth is complete by 17 yo

Answer 220

Adrenal medulla: -catecholamines Adrenal cortex: - zona glomerulosa: mineralocorticoids aka aldosterone (think glomerulus in kidney) - zona fasciculata: glucocorticoids - zona reticularis: sex hormones + small amt glucocorticoids ("I had sex with reticularis")

Answer 221

7 cm after menarche | -but need to get bone age xray to know for sure

Answer 222

- Metabolic: increases serum glucose by increasing hepatic gluconeogenesis and glycolysis - CVS: positive inotropic effect on the heart - Growth: inhibit linear growth and skeletal maturation by decreasing GH and IGF1 - Immune: decreases inflammation and immune response - Skin/bone/calcium: inhibits fibroblasts leading to poor wound healing, decreases serum Ca and decreases osteoblastic activity --> osteoporosis - CNS: crosses BBB and has direct effects on brain metabolism --> stimulates appetite, insomnia, irritability, emotional lability

Answer 223

1. VMA 2. Metanephrine 3. Normetanephrine

Answer 224

1. If there is a Y chromosome, then the bipotential gonads can differentiate into testes between 6-8 wks. 2. The testes produce testosterone (Leydig cells) and anti-Mullerian hormone (Sertoli cells) --> testerone directs formation of the internal male reproductive organs from Wolffian ducts and AMH suppresses development of the Mullerian ducts (ie. preventing female internal reproductive organ formation) 3. At 8-12 wks, the testosterone made by testes is changed to DHT (by 5 alpha reductase). DHT causes formation of male external genitalia. If there is no DHT, then female external genitalia develops. **In infants with CAH, there is an excess of DHT due to build up of intermediate metabolites and thus female babies can have virilization (formation of male external genitalia) while still having normal female internal reproductive organs

Answer 225

21-hydroxylase deficiency (90% of cases) | -two types: classic (severe form, 75% have salt wasting) and non-classic (milder)

Answer 226

Androgen excess manifests later in life as: 1. Premature adrenarche 2. Advanced bone age * *genital ambiguity is not present at birth - no salt-wasting (mineralocorticoid deficiency)

Answer 227

Normal growth velocity: | 1. Constitutional growth delay (bone age

Answer 228

Triad: 1. Optic nerve hypoplasia (manifests as nystagmus) 2. Pituitary hormone abnormalities: growth failure, hypothyroidism, adrenal insufficiency, diabetes insipidus (varying degrees) 3. Midline brain defects: agenesis of septum pellucidum and/or corpus callosum - need 2/3 of features for diagnosis (this is up for debate)

Answer 229

1. Hypoglycemia | 2. Seizures secondary to underlying structural brain abnormalities

Answer 230

1. Brain MRI to rule out midline brain abnormalities 2. Ophtho consult 3. Pituitary function: TSH, cortisol (random in a neonate is fine), growth hormone, IGF-1 * **when child is older, consider LH and FSH levels to monitor for delayed puberty

Answer 231

Monitor TSH | -autoimmune thyroiditis: lymphocytic infiltration of thyroid gland

Answer 232

X-linked inheritance - more common in males (90%) - mutation in AVPR2 gene

Answer 233

Hashimoto's aka lymphocytic thyroiditis aka autoimmune thyroiditis - MOST COMMON cause of thyroid disease in children - T cell lymphocytes infiltrating thyroid gland - hyperplasia first (can get hyperthyroidism) and then follicular cells die (hypothyroidism) - anti-thyroperoxidase antibodies most common (90%); can also have anti-thyroglobulin antibodies (10%) and anti-thyroid receptor antibodies

Answer 234

- If hypothyroid: levothyroxine | - If euthyroid: monitor with no treatment

Answer 235

1. Turner's syndrome 2. Idiopathic short stature 3. growth hormone deficiency 4. Chronic renal failure 5. Prader Willi 6. SGA with failure of catchup growth 7. Noonan

Answer 236

1. SCFE 2. Pseudotumor cerebri 3. Gynecomastia 4. Worsening scoliosis

Answer 237

Girls! | -most common etiology is idiopathic

Answer 238

1. 3-B-hydroxysteroid-dehydrogenase deficiency 2. CAH (21 hydroxylase deficiency 3. Maternal androgen exposure (maternal adrenal tumor)

Answer 239

1. Defect in androgen synthesis (3-B-hydroxysteroid-dehydrogenase or 5-alpha reductase deficiency) 2. Androgen insensitivity syndromes (receptors do not respond to testosterone) 3. Syndromes with defect in testicular malformation - Deny-Drash: nephropathy, bilateral Wilm's and ambiguous genitalia - WAGR

Answer 240

1. Hypocalcemia 2. Delayed teeth eruption/strength 3. Scaly skin 4. ***Mucocutaneous candidiasis 5. Cataracts * **All from hypocalcemia

Answer 241

1. Muscle spasms 2. Chovstek's sign: facial nerve spasm on tapping 3. Trousseau's: hand spasm with blood pressure cuff inflated 4. Seizures 5. Tetany 6. Hyperreflexia

Answer 242

``` FATPIG F - FSH/LH A - ACTH T - TSH PI - prolactin G - GH ```

Answer 243

1. Oxytocin | 2. ADH

Answer 244

Primary adrenal insufficiency: adrenal gland dysfunction - elevated ACTH - low cortisol or low mineralcorticoid (hyponatremia/hyperkalemia) - will see hyperpigmentation (due to pituitary gland trying to stimulate the adrenals and also secreting MSH) Secondary adrenal insufficiency: hypothalamic or pituitary dysfunction -low ACTH -low cortisol, normal mineralocorticoid (controlled by RAAS system, not hypothalamus or pituitary; thus no hyponatremia/hyperkalemia)

Answer 245

1. Autoimmune: isolated, autoimmune polyendocrinopathy syndromes 2. Infectious: meningococcemia, disseminated fungal infections, TB 3. Trauma: bilateral adrenal hemorrhage 4. Inherited enzymatic defects: CAH 5. Iatrogenic: exogenous steroids

Answer 246

1. Hyperlipidemia 2. Obstructive sleep apnea 3. Type 2 DM 4. Hypothyroidism 5. SCFE 6. Intracranial hypertension 7. PCOS 8. Accelerated growth secondary to increased estrogen

Answer 247

1. Anovulation or oligoovulation 2. Hyperandrogenism (Ultrasound findings not a criteria for teens)

Answer 248

General: 1. FTT 2. Fractures 3. Frontal bossing 4. Delayed anterior fontanelle closure 5. Delayed eruption of teeth 6. Craniotabes (soft, thin skull) Chest: 1. Ricketic rosary: prominent knobs of bones at costochondral joints 2. Harrison's groove: diaphragm pulls weakened bones downward 3. Atelectasis Wrist: 1. Widening of wrist

Answer 249

Girl: [(mom's ht in cm + dad's ht in cm) - 13 cm] / 2 Boy: [(mom's ht in cm + dad's ht in cm) + 13 cm] / 2

Answer 250

Prolactin - inhibited by hypothalamic release of dopamine -thus, in hypothalamic deficiency, you get a decrease in most pituitary hormone secretions but can have increase in prolactin secretion

Answer 251

Establish whether there are palpable gonads in the scrotum or inguinal canal -if you feel testicles, Y chromosome is more likely

Answer 252

1. Defective adrenal production of androgens 2. Lack of proper testicular testosterone synthesis - ie: 5 alpha reductase deficiency = inadequate conversion of testosterone to DHT leaing to ambiguous external genitalia but normal internal genitalia 3. Failure of target tissues to respond to androgens - complete vs. partial androgen insensitivity - complete: presents in adolescence since child appears phenotypically female and when reaches adolescence, amenorrhea is noted - partial: has ambiguous genitalia thus is diagnosed at birth - useful investigations: testosterone and DHT (dihydrotestosterone) levels

Answer 253

Virilization occurs when the female fetus is exposed to excessive androgens; since mullerian inhibiting substance is not present however (secreted only by testicles which only develop when there is a Y chromsoome), female internal reproductive organs are normal 1. Congenital adrenal hyperplasia 2. Maternal exposure to exogenous androgens

Answer 254

1. Use of progestins during pregnancy 2. Ovarian or adrenal tumors 3. Maternal CAH

Answer 255

1. Marfan syndrome 2. Klinefelter 3. XYY 4. Homocystinuria 5. Growth hormone excess (cerebral gigantism from pituitary GH-producing tumor or GH-releasing factor producing tumor in hypothalamus)

Answer 256

- Girls: Onset of puberty prior to age 6 in African American girls and prior to age 8 in all other races - Boys: onset of puberty prior to age 9

Answer 257

1. Gonadotropin-dependent (ie. central) precocious puberty - will see HIGH LH & FSH due to increased pituitary gland production - early hypothalamic GnRH secretion occurs = usually idiopathic in females but more likely to be secondary to another process in males - clinical features: accelerated linear growth with advanced bone age (but this means earlier fusion of epiphysis which leads to adult short stature), pubertal levels of LH, FSH, estradiol, testosterone, in boys will see bilaterally enlarged testes - diagnose with GnRH stim test - treatment: GnRH agonists, ie. lupron (remember that pituitary gland releases FSH & LH based on pulsatile release of GnRH by hypothalamus; thus with GnRH agonist acting at the pituitary GnRH receptors at all times, will actually have decreased FSH & LH production due to desensitization) - Causes (think CNS lesion): 1) Hypothalamic hamartoma 2) Gliomas 3) Trauma 4) Postinfectious changes 5) Hydrocephalus 2. Gonadotropin-independent precocious puberty: - will see LOW FSH/LH due to excess androgens causing negative feedback loop - Causes (think tumor): * girls: 1) Exogenous estrogens (pills/creams) 2) estrogen-producing tumors of the ovary or adrenal gland 3) ovarian cysts 4) McCune-Albright syndrome * boys: 1) topical androgens 2) adrenal enzymatic deficiencies 3) testicular tumor 4) Leydig cell hyperplasia 5) HCG-producing tumors 6) adrenal tumors - clinical features: virilization, increased linear growth, usually normal sized testes for age - treatment: remove the source of excess androgen

Answer 258

Ages 1-4 yo | -average: 18 months

Answer 259

Physiologic vs. pathologic - Physiologic: occurs in 40% of boys, breast enlargement starts at tanner stage 2-3, lasts ~ 2 yrs, can be unilateral or symmetric - pathologic: onset before or after puberty, rapid progression, nipple discharge, drug use, >4 cm of breast tissue, small testicles, testicular mass, abnormal neurologic exam, tall & slim body habitus (eunuchoid body habitus = Klinefelter) - ddx for pathologic gynecomastia: 1. Klinefelter syndrome 2. Partial androgen insensitivity 3. Hyperthryoidism 4. Marijuana 5. Liver disease or tumor 6. Adrenal or testicular tumor

Answer 260

Primary gonadal delayed puberty (problem with the ovary/testes) vs. secondary gonadal delayed puberty (problem with the CNS axis) Primary gonadal delayed puberty: - will see INCREASED LH/FSH since the pituitary gland is trying to stimulate the gonad to produce androgens and is getting nothing back - ddx (common): 1. Chemotherapy/radiation therapy 2. Autoimmune destruction 3. Androgen insensitivity syndrome (XY karyotype but phenotypically female = develop breasts but never grow sexual hair or have menarche) 4. Complete 17 alpha hydroxylase deficiency: cannot make any sex steroids 5. Turner syndrome: no breast development since ovaries fail prior to puberty, still develop sexual hair since adrenals are still making androgens 6. Klinefelter syndrome: -treatment: replacement of sex steroids (ie. testosterone injections or conjugated estrogens, OCP to induce menses) Secondary delayed puberty (hypogonadotropic): -will see DECREASED LH/FSH since there is either a problem with the hypothalamus not making GnRH or pituitary gland not making LH/FSH and thus nothing is stimulating the gonads to secrete sex hormones - ddx: 1. Constitutional delay (most common) 2. Kallmann syndrome: Failure of GnRH neurons to migrate to the hypothalamus during embryogenesis and thus lack of cells that secrete GnRH = thus have hypogonadotropic hypogonadism. Patients also have anosmia or hyposmia (altered sense of smell) 3. Pituitary adenoma: secretes prolactin which acts on negative feedback loop and decreases LH/FSH release 4. Hypothyroidism 5. Chronic illness/malnutrition - investigation: do GnRH stim test to differentiate between these two (Kallmann will have low or absent GnRH), CNS imaging to r/o tumor - treatment: replacement of sex steroids

Answer 261

IGF-1 | -if this is abnormal, then do growth hormone stim test

Answer 262

1. Endocrine screen: *For anterior pituitary: Go find the adenoma please -Go = growth hormone (measure surrogate which is IGF-1) -Find = FSH and LH (no point in -The = TSH and FT4 -Adenoma = ACTH = do cortisol level -Prolactin = rules out mass * For posterior pituitary problems: - lytes to rule out ADH abnormalities - oxytocin is not going to be super helpful Include CBC + diff, BUn, Cr, ALT, Bili as well

Answer 263

- Girls: NORMAL to start between 8-13 years old | - Boys: NORMAL to start between 9-14 years old

Answer 264

1. Short stature 2. Lowset ears 3. Cystic hygroma 4. High arched palate 5. Short, webbed neck 6. Shield chest with widely spaced nipples 7. Low posterior hairline 8. Primary amenorrhea 9. Cubitus valgus 10. Bicuspid aortic valve (most common cardiac issue) 11. Coarctation of aorta

Answer 265

4 ml or 2.5 cm

Answer 266

1. Look at growth velocity 2. Order bone age * ***if there is increased growth velocity and advanced bone age, then there is a pathological cause of precocious puberty

Answer 267

Sterile abscesses at IM injection site

Answer 268

Depends on age (usually treat for girls <6) | to preserve growth and for psychosocial reasons

Answer 269

1. DHEAS 2. Testosterone 3. 17 OH P 4. Androstenedione

Answer 270

Premature thelarche = breast enlargement WITHOUT development of nipples or areola - can occur in girls 1-4 yo and may be unilateral - In order to make this diagnosis: need NORMAL growth velocity (ie. there is no acceleration of linear growth) and NORMAL bone age (ie. no advanced bone age) - this is what differentiates this from precocious puberty

Answer 271

Low calcium and high phosphate | -vitamin D deficiency: low calcium and low phosphate

Answer 272

1. Malabsorption | 2. Renal losses

Answer 273

****remember that the KEY in hypocalcemia is getting a PO4 level to see if it is related to hypoparathyroidism or not Calcium is tightly controlled by PTH (released by parathyroid glands) -calcium sensing receptors in parathyroid gland. If Ca low, PTH release occurs -PTH has direct and indirect effects to try to increase serum calcium -bone resorption and causes release of calcium -in kidneys, PTH causes calcium reabsorption and increases calcitriol production (1,25-OH2D = activated form of vitamin D) -1,25-OH-2D = acts on gut to increase calcium absorption ***need a normal magnesium level for PTH to function normally (ie. hypomagnesemia can lead to hypoparathryroidism)

Answer 274

Vitamin D3 is from the skin Liver --> 25 OH D Kidney --> 1,25 OH2 D (active form!)

Answer 275

Vitamin D resistant rickets = 50% can be associated with alopecia - this is caused by inability to reabsorb phosphate so will get LOW PO4 and normal or low calcium - inheritance pattern: X-linked dominant

Answer 276

* ***Most important: 1. PO4**** 2. PTH**** 3. Calcium**** 4. 25-OH-D 5. 1,25-OH2-D 6. ALP 7. Mg**** 8. Consider liver function/enzymes 9. Consider renal function 10. Urine calcium:Cr ratio**** ****2 lavendar + 2 green tubes

Answer 277

How you treat will depend where the problem is! If hypomagnesmia, need to replace Mg 1. Calcium 2. Calcitriol (aka 1,25-OH2-D) since without PTH, you will not be able to convert 25 OH vitamin D to 1,25 OH2 D and thus not have adequate GI absorption of calcium If hypocalcemia is secondary to GI/renal losses: 1. Vitamin D2 (vitamin D drops, ergocalciferol)) and then this can be converted to subsequent types of vitamin D active forms 2. Calcium

Answer 278

1. Glycogenoloysis happens in first 4-8 hrs - if you can't do this, glycogen storage disorders 2. Gluconeogenesis from amino acids in 8-12 hours 3. Fatty acid oxidation at 12-18 hours in infants or 18-24 hours in children

Answer 279

-hyperinsulin states = hypoglycemia happens immediately after feed because bolus of glucose causes bolus of insulin release

Answer 280

1. Ketones? 2. Timing? 3. Hypoglycemia meds in the family (ie. ingestion)? 4. Acute illness? 5. Prolonged fasting? 6. Salt craving? = primary adrenal insufficiency (deficiency of mineralcorticoid) 7. Headaches/visual changes = secondary adrenal insufficiency due to brain tumor 8. Growth? 9. Acidotic?

Answer 281

MCAD = high free fatty acid and normal glucose requirements, ketones are low Hyperinsulinism: glucose requirements are high and free fatty acids are low, ketones are low

Answer 282

(%glucose in solution)(TFI)/144

Answer 283

Take blood sugar, substract 5.6 (this is a normal blood sugar) and divide by 3.5 = then add this to measured sodium! -ex. BG 25? (25 - 5.6)/3.5 = add this to the measured Na level

Answer 284

1. New onset presentation 2. Hypernatremia (severe dehydration): Na > 145 3. Age 18), titrate insulin to maintain BG 6-10 - start SC insulin once acidosis corrected at breakfast or supper (to avoid hyperchloremic metabolic acidosis)

Answer 285

Major criteria: - altered mentation/fluctuating LOC - sustained heart rate deceleration - age appropriate incontinence ``` Minor criteria: Vomiting headache lethargy/not easily aroused diastolic pressure > 90 Age ```

Answer 286

1. Severe hyperglycemia (BG > 33) 2. Serum osmolality > 330 mmol/L 3. Absence of significant ketosis: HCO3 > 15, urine ketones negative or trace

Answer 287

1. Bolus NS 20 ml/kg - assume 12-15% fluid deficit - calculate this and correct deficit over 24-48 hrs! - don't be afraid to bolus!!! - begin insulin when glucose concentration no longer declining with fluid alone - 0.025-0.05 U/kg/h - aim to decrease BG by 3-4 mmol/L/h - tend to have higher fluid requirements than DKA - consider lower dose and later initiation of insulin infusion

Answer 288

If HgA1C > 9%, will need subq insulin! - this is because in severe hyperglycemia, even if pancreas is ABLE to make insulin such as in T2DM, the beta islet cells are shocked by the hyperglycemia and will stop producing insulin - give them insulin until the BGs are coming down, then may be able to wean off insulin

Answer 289

She needs insulin! Need 20% of total daily dose of insulin! Give this in NR! -ie. total daily insulin dose = 30 units. So give 6 units NR right away. Advice for parents: 1. BG checks q2-4h 2. urine/blood ketones q2-4h, if BG > 14 at any time 3. Never ever ever omit insulin even if the child is refusing to eat.

Answer 290

This is for EACH PRE MEAL: BG 14, negative or trace ketones: give 10% of TDD as NR BG > 14, moderate ketones: give 15% of TDD as NR BG > 14, large ketones: give 20% of TDD

Answer 291

Novorapid only! | -gives continuous basal insulin and then the child boluses the NR pre meals

Answer 292

Normally: 50% of insulin as basal and 50% of insulin is for when you eat (boluses) Safest thing to do: 1. IV fluids with dextrose D5W 2. Insulin infusion 0.02 U/kg/hr and titrate insulin to maintain BG 6-12 3. BG monitoring 1h after starting infusion and after any change in infusion rate, then

Answer 293

>20 kg: 15 g carbs

Answer 294

Hold rapid since she's not eating. Decrease her NPH for as long as she is not eating.

Answer 295

Once bone age is > 2 yrs behind chronological age, this is most likely due to a pathological cause and is NOT constitutional growth delay

Answer 296

1. Growth hormone deficiency 2. Hypothyroidism 3. Malnutrition 4. Liver disease

Answer 297

1. During first 2-3 yrs of life since birth weight means nothing in terms of predicting postnatal growth 2. During puberty since there is variation between children in timing of puberty ****Thus, in between 3 yo and puberty, children should definitely be following their growth curve and not crossing percentile lines!

Answer 298

BONE AGE!!!! -if bone age = chronological age, then this is premature thelarche since there are no other signs of puberty and no increased growth velocity!

Answer 299

MOST cases of precocious puberty in girls is idiopathic...however, if there are neurologic s/s OR if she is

Answer 300

If the precocious puberty follows the normal, expected sequence of puberty, then most likely it is CENTRAL! If the precocious puberty does NOT follow the normal, expected sequence of puberty, the most likely it is PERIPHERAL! - ie. in girls: if adrenarche occurs prior to thelarche - ie. in boysL if adrenarche/pubarche occurs but they have tiny testes still (remember that testicular enlargement is the FIRST STAGE in normal puberty!)

Answer 301

Testosterone level = most likely androgen insensitivity syndrome - think this if you see breast development with NO periods and NO adrenarche! - Has breasts because with the XY karyotype, she is making testosterone but the tissues' receptors aren't responding...thus the testosterone that is kicking around gets aromatized by adipose tissue into estrogen which stimulates the breast development

Answer 302

Pre prandial 4-8 post prandial 5-10 A1C <7.5%

Answer 303

Trial dose of DDAVP (desmopressin), then measure lytes, serum osmolality, urine lytes and urine osmolality. - if there is a response to the DDAVP and the kidneys are able to concentrate the urine, then this means the post pit is not making ADH! Next step would then be MRI head to r/o tumor - if there is NO response to the DDAVP, then you've made the diagnosis of nephrogenic DI

Answer 304

1. Post head trauma (ie. basal skull fracture) 2. Post neurosurgery 3. Post radiation 4. CNS tumor of the pituitary gland (germinoma) 5. Septooptic dysplasia

Answer 305

Order serum and urine lytes and osmolality to see if the urine is dilute! This MAY be diabetes insipidus! Remember that a normal electrolyte profile does NOT rule out DI if the patient's thirst mechanism is intact and they have access to free water!

Answer 306

Permanent: 1. thyroid dysgenesis (80%) 2. dyshormonogenesis (10%) = cannot make thyroid hormone 3. Hypothalamic/pituitary dysfunction (5%) = no TSH Transient (5%): 4. Intrauterine antithyroid meds 5. Maternal antibodies against baby's thyroid 6. Iodine deficiency

Answer 307

1. Headache - ? from htn 2. Palpitations/tachycardia 3. Diaphoresis * ***will have sustained hypertension so if you see palpitations/diaphoresis but you don't see hypertension, it's most likely not a pheo * **spot urinary catecholamines are highly sensitive but NOT specific! Ie. lots of false positives - best test: 24 hr urinary catecholamines

Answer 308

1. Graves disease = most common = thyroid gland stimulated by anti thyroid receptor antibodies 2. Subacute thyroiditis 3. Suppurative thyroiditis 4. Toxic uninodular goitre Treatment options: 1. Surgery 2. Radioactive iodine 3. Methimazole: inhibits the enzyme thyroperoxidase which is needed to make thyroid hormone

Answer 309

Goiter = think Hashimoto thyroiditis = lymphocytic infiltation of thyroid gland Possible clinical features: - could be euthyroid = asymptomatic enlargement - could have mild hypothyroidism - overt hypothyroidism with enlarged or atrophic gland First investigation: TSH/T4. US if nodule, but not if diffusely enlarged

Answer 310

Hydrocortisone 100 mg/m2 for stress dosing = has both mineralcorticoid and glucocorticoid effects! - adolescent = give HC 100 mg total x 1 - infant = give 25 mg total x 1

Answer 311

low dose dexamethasone suppression test or 24 hour urinary cortisol

Answer 312

- complete androgen insensitivity: presents in adolescence since the patient is phenotypically female so no one will suspect the diagnosis until she presents with primary amenorrhea - partial androgen insensitivity: presents at birth since the patient will have some virilization of external genitalia but not enough

Answer 313

Acute suppurative thyroiditis = rare cause of enlarged thyroid, most commonly caused by GAS, staph aureus or strep pneumo -FNA would reveal purulent material

Answer 314

Papillary adenocarcinoma

Answer 315

Hypoplasia or agenesis of parathyroid glands = thus no PTH to regulate serum calcium levels

Answer 316

Bone and kidneys are resistant to PTH = see decreased Ca, increased PO4, INCREASED PTH because parathyroid glands are working hard to try to stimulate the bones and kidneys - clinical features: 1. short stature 2. Mental disability 3. Brachydactyly (4th and 5th fingers) 4. increased bone density throughout body (especially in the skull) 5. Obesity with round facies and short neck 6. Subcapsular cataracts 7. Cutaneous and subcutaneous calcifications 8. Perivascular calcifications of the basal ganglia

Answer 317

Vitamin D deficiency = can be from decreased dietary intake, decreased sunlight, malabsorption (CF, pancreatitis, celiac disease), liver or renal failure

Answer 318

Adrenal insufficiency = used to determine whether glucocorticoid insufficiency is due to primary or secondary cause - steps: 1. measure cortisol level 2. give ACTH 3. re-measure cortisol level to see if it has risen! If it has, then this means that the adrenal gland is working fine and there is a central cause of adrenal insufficiency (hypothalamic or pituitary gland dysfunction). If there is no change, then it is a primary adrenal gland problem (most likely autoimmune)

Answer 319

Excess glucocorticoid specifically from an ACTH-producing pituitary adenoma!

Answer 320

False positive: newborn screen done within 24 hrs of birth = there is a normal TSH surge occurring after birth False negatives: prematurity, maternal antithyroid drugs, maternal iodine deficiency

Answer 321

All children who are overweight (BMI > 85th percentile) with at least 2/4 risk factors: 1. Family history of type 2 DM in 1st or 2nd degree relatives 2. First nations, African americans, hispanic, asian/pacific islander 3. Signs of insulin resistance or conditions assocaited with insulin resistance: acanthosis nigricans, hypertension, dyslipidemia, PCOS 4. Hx of gestational diabetes in mom - start screening at 10 yrs or at onset of puberty if puberty occurs at younger age - screening test: fasting plasma glucose q2y

Answer 322

``` DHEAS = weak androgen Androstenedione = weak androgen Testosterone = strong androgen DHT = strong androgen ``` * **In adult males: adrenals produce 5% of androgens * **In adult females: adrenals produce 50% of androgens

Answer 323

Primary adrenal insufficiency = can also see mineralcorticoid deficiency (salt craving, abN lytes)! Also will see hyperpigmentation. High ACTH. -salt craving***** Secondary adrenal insufficiency = will not see mineralcorticoid deficiency. Low ACTH.

Answer 324

Congenital 1. CAH 2. adrenoleukodystrophy (only treatment is bone marrow transplant) 3. ACTH resistance Acquired: 1. Autoimmune adrenalitis = addison's 2. Hemorrhage/infection Infants: greater requirement for aldosterone so without it, will become hyponatremic/hyperkalemic much faster! Also become ill super fast with hypoglycemia because they have less ketosis, also have less hyperpigmentation because get really sick before they have time to become hyperpigmented Labwork: glucose, lytes, gas, cortisol, acth, aldosterone, renin BEFORE steroids given!

Answer 325

BSA = square root of ht (cm) x wt (kg) / 3600 Acute: 1. Hydrocortisone: 100 mg/m2, then 25 mg/m2 q6h (can try 2 mg/kg if you don't know the dose) 2. Restore volume with boluses 3. Critical sample before steroids 4. Support: BP, BW, Endo, PICU 5. +/- vasopressors, more glucose 6. +/- EKG, calcium, HCO3, Kayexalate, glucose + insulin Chronic: 1. Hydrocortisone 8-10 mg/m2/day div TID 2. Fludrocortisone 0.05 to 0.3 mg daily (if aldo def) 3. Education on Stress dosing

Answer 326

Emergent: hydrocortisone 100 mg/m2 IV then 25 mg/m2 IV q6h Moderate (vomiting, fever > 38.5): hydrocortisone 30 mg/m2 PO/IV q8h (ie. triple normal home dose) Mild illness (fever > 37.5): hydrocortisone 20 mg/m2 PO divided TID (ie. double normal home dose) * **normal physiologic dose = 10 mg/m2/day - children are usually on hydrocortisone at home if they have adrenal insufficiency

Answer 327

Resistance to aldosterone but see high aldosterone and renin, normal cortisol. Will resolve as soon as the underlying condition is treated - causes: 1. Obstructive uropathy 2. UTI 3. SCD

Answer 328

1. Lytes 2. Glucose 3. Gas 4. 17 OH P 5. DHEAS, androstenedione 6. Reinin 7. Aldosterone 8. Cortisol

Answer 329

1. Replace insensible losses: 400 ml/m2/day, replace with D5NS + 40 mEq/L KCl 2. Replace u/o 1:1 q2hrly = if urine Na > 150, can use NS, if urine Na 50-150, then use 0.45NS, urine Na

Answer 330

TBW x (serum Na - 140)/140 ****don't want to decrease serum Na by more than 10 mmol/day...so if their initial Na is 170, then you wanna use 160 as your ideal instead of 140 - TBW = 0.6 x wt (kg) - then give this volume over the next 24-48 hrs - use dextrose D5W fluid = this is free water ***Then you add urine output replacement 1:1 q2hrly AND add insensible losses = 400 ml/m2/day but you have to use D5WNS + 40 KCl so need to get a second line. Do NOT use 4:2:1 rule!!! Because this takes into account his urine output which we are already doing!!!!

Answer 331

1. Water restriction - only give insensibles (400 ml/m2) + 50-100% u/o (especially if you don't know what the cause of their SIADH is) 2. 3% NaCL 5 ml/kg only if symptomatic = max Na = 0.5 mEq/L/hr to prevent central pontine myelinolysis 3. Chronic treatment: 1000 ml/m2/day water

Answer 332

Loss of extra-cellular fluid = low serum sodium but HIGH urine output, may be secondary to atrionaturetic peptide causing increased urine output (osmotic diuresis) -causes: brain tumors, post neurosurgery, traumatic brain injury Treatment: 1. Insensibles NS + 40 KCl 2. Replace U/O 1:1 with NS 3. Replace losses 4. Avoid rapid increase in Na

Answer 333

Ca can be normal or low PO4 will be low!!! -This is because without vitamin D, you get hypocalcemia and thus PTH secretion. PTH causes mobilization of calcium and phosphorus from bone and then subsequently resorption of calcium by kidneys and excretion of phosphate

Answer 334

Pseudohypoparathyroidism! - Will see low Ca, high PO4 but HIGH PTH!!!!! - unresponsiveness of the renal tubules to parathyroid hormone

Answer 335

Calcitonin! | -but usually see normal calcium and phosphorus levels

Answer 336

- McCune-Albright yndrome - Longstanding primary hypothyroidism - CAH - Fragile X syndrome (80% pubertal boys)

Answer 337

First 2-3 years | Puberty

Answer 338

X-linked gammaglobinemia

Answer 339

- Normal ESR: chronic bacterial or fungal infection unlikely - Persistently high neutrophil count – leukocyte adhesion deficiency should be suspected, if its normal, congenital and acquired neutropenias and leukocyte adhesion defects are unlikely - Absolute lymphotcyte count is normal: severe T-cell defect unlikely (T cells constitute 70% of circulating lymphocytes – if they are absent, you usually have a striking leucopenia). If lymphocytes

Answer 340

- Hereditary angioedema (C1 esterase) - Hyper IgE (STAT 3) - DiGeorge syndrome (22 q11) - Autoimmune lymphoproliferative syndrome (FAS)

Answer 341

- X-linked agammaglobulinemia (8TK) - X-linked SCID (IL2R gene) - X-linked Hyper IgM syndrome (CD40-ligand) - Wiskott- Aldrich syndrome (WASP) - X-linked lymphoproliferative dz (SH2D1A) - IPEX - X-linked CGD (gp91) - X-linked dyskeratosis congenital (dyskerin)

Answer 342

ADA | TRECs

Answer 343

Albinism and recurrent infections (Silver hair) Giant granules inside the neutrophils (look on the smear – ask them to look for the giant granules) Can have a lot of bleeding – problem with platelets and neurological problems with age. If you transplant them, you improve their immunological status, but don’t improve their neuro outcome (same thing with AT) Chiagasi : cutaneous-ocular albinism Accelerated phase – bad !!! die really quickly Need to get transplanted before they get sick

Answer 344

Characterized by: - Abnormal DNA repair - complex multisystem dz with variable immune deficiency - progressive cerebellar ataxia, occulomotor abnormalities - usually confined to a wheel chair by 10-12 yrs - recurrent sino-pulmonary infections, pneumonia and bronchiectasis - decreased ability to make antibodies, 50-80% have absent IgA - decreased T cell numbers and responses to stimulation - 15% pts develop malignancy - Lymphoma + ataxia is AT until proven otherwise

Answer 345

``` Most common PID 90% asymptomatic Reucrrent sinopulmonary infections Higher autoimmune and allergic diseases Especially SLE, RA, IBD ```

Answer 346

DX OF EXCLUSION | Prolonged physioogic nadir

Answer 347

Tyrosine kinase BTK No immunoglobulins IVIG lifelong

Answer 348

``` 20-25% Cytopenias GI: IBDlike, gastritis, Small bowel nodular lymphoid hyperplasia Arthritis Garnualomas Thyroiditis ```

Answer 349

Increased incidiecne fo hyphoreticular and gastric: LYMPHOMA

Answer 350

Remember the “High 5-Is” mnemonic: H (hyperparathyroidism) plus the five Is (idiopathic, infantile, infection, infiltration, and ingestion) and S (skeletal disorders). Hyperparathyroidism: Idiopathic: Williams syndrome Infantile: Subcutaneous fat necrosis Secondary to maternal hypoparathyroidism and inadequate transfer of calcium across the placenta. Infection: Tuberculosis Infiltration: Ingestion: A/D, Thiazide Skeletal Disorders: Immobilization,Skeletal