VII

Question 1

digeorge syndrome dysmorphogenesis of what structures

Answer 1

third or fourth pharyngeal pouches

Question 2

immunizations should be given based on chronological or gestational age

Answer 2

chronological

Question 3

what are the inactivated pediatric vaccines

Answer 3

polio

hep A

Question 4

what are the inactivated toxin (toxoid) vaccines

Answer 4

diptheria, tetanus

Question 5

what are the conjugate vaccines

Answer 5

hep B
pertussis
H influenza type B
pneumococcal
meningococcal
hpv
influenza

Question 6

what are the live attenuated vaccines

Answer 6

rotavirus
measles
mumps
rubella
varicella
influenza

Question 7

weight minimum for first hep B vaccine

Answer 7

> 2 kg

Question 8

Dx confirmation SCID

Answer 8

absent lymph nodes and tonsils, lymphopenia, absent thymic shadow on CX, abnormal T,B and natural killer cell enumeration by flow cytometric analysis

Question 9

X linked aggamaglobulinemia

Answer 9

also known as Brutons

male infant asymptomatic until 6-9 mo then recurrent S pneumo and H influenza

Question 10

Dx confirmation brutons agammaglobulinemia

Answer 10

decreased serum concentrations IgG IgA, IgM and IgE

no decrease in circulating B cells

Question 11

less than 2% CD19+ B cells in peripheral circulations

Answer 11

x linked agammaglobulinemia

Question 12

immunologic findings of wiskott aldrich syndrome

Answer 12

low IgM
high IgA and IgE
poor Ab response to polysacharide Ag
reduced # T cells and platelets

Question 13

Dx by nitro blue tetrazolium test

Answer 13

chronic granulomatous disease

Question 14

Tx hyepr IgM

Answer 14

antibiotic prophylaxis and interval administration IV immunoglobulin

Question 15

infections with leukocyte adhesion deficiency type 1

Answer 15

S aureus

gram negative

Question 16

deficient expression of CD18

Answer 16

leukocyte adhesion deficiency

Question 17

contraindications to diptheria/tetanus

Answer 17

anaphylxis to vaccine ingredients

Question 18

contraindications to pertussis

Answer 18

anaphylaxis to vaccine ingredients
progressive neurologic disorder
encephalopathy within week of previous vaccine dose

Question 19

defect in x agammaglobulinemia

Answer 19

defect in tyrosine kinase in B cells

Question 20

lack of IgA increase risk of what protozoan

Answer 20

giardia

Question 21

Chediak Higashi syndrome

Answer 21

decreased degranulation, chemotaxis and granulopoiesis

Question 22

signs of chediak higashi syndrome

Answer 22

mild coagulopathy, peripheral and cranial neuropathy, hepatosplenomegaly, pancytopenia, partial oculocutaneous albinism, frequent bacterial infections and progressive lymphoproliferative syndrome

Question 23

giant lysosomes in neutrophils

Answer 23

chediak higashi syndrome

Question 24

Tx chediak higashi syndrome

Answer 24

TMP SMX

Question 25

Hyper IgE

Answer 25

jobs syndrome: chronic pruritis dermatitis, recurrent staphylococcal infections, markedly elevated IgE levels, eosinophilia and coarse facial features

Question 26

gynecomastia in pubertal male

Answer 26

reassurance | resolve in few mo to 2 years w/o intervention

Question 27

what causes gynecomastia in pubertal male

Answer 27

increased testicular production of E

Question 28

elevated prolactin in male

Answer 28

breast enlargement with hypogonadism

Question 29

premature development secondary sexual characteristics ages

Answer 29

girls

Question 30

isolated premature adrenarche

Answer 30

increased adrenal androgen

Question 31

typical manifestations of increased adrenal androgen

Answer 31

body odor, oily hair, skin, acne, pubic hair, axillary hair

Question 32

laboratory findings in premature adrenarche

Answer 32

increased DHEA-S | testosterone low

Question 33

isolated premature adrenarche puts significant risk for

Answer 33

polycystic ovarian syndrome type 2 DM metabolic syndrome

Question 34

what causes gonadotropin-dependent precocious puberty

Answer 34

premature activation of hypothalamic pituitary gonadal axis

Question 35

clinical management of gonadotropin-dependent precocious puberty

Answer 35

adrenarche, telarche, pubarche or advanced age

Question 36

imaging for those with GDPP and elevated LH

Answer 36

brain MRI with contrast

Question 37

Tx idiopathic gonadotropin-dependent precocious puberty

Answer 37

GnRH agonist to prevent premature epiphyseal plate fusion

Question 38

enzyme deficiency in congenital adrenal hyperplasia

Answer 38

21-hydroxylase deficiency CYP21A2

Question 39

21 hydroxylase converts what

Answer 39

17 hydroxyprog to 11 deoxycortisol

Question 40

CAH in neonatal period

Answer 40

adrenal insufficiency and ambiguous genitalia

Question 41

late onset Congenital adrenal hyperplasia

Answer 41

androgen excess premature adrenarch/pubarche severe cystic acne resistant to treatment accelerated linear growth and advanced bone age

Question 42

which onset congenital adrenal hyperplasia has salt wasting

Answer 42

classic congenital adrenal hyperplasia (neonatal)

Question 43

most common cause primary hypogonadism

Answer 43

klinefelter syndrome 47 XXY

Question 44

advanced bone age coarse axillary pubic hair and severe cystic acne

Answer 44

late onset congenital adrenal hyperplasia | from 21-hydroxylase deficiency

Question 45

congenital hypothyroid

Answer 45

normal at birth | develop apathy, weakness, hypotonia, large tongue, sluggish movement, abdominal bloating and an umbilical hernia

Question 46

wernig hoffman syndrome

Answer 46

auto recessive | degeneration anterior horn cells and cranial nerve motor nuclei

Question 47

refeeding syndrome

Answer 47

starvation or anorexia patient now has food, stimulate insulin, now uptake K, phosphorus and Mg can lead to arrhythmias

Question 48

steroid increased in 21-hydroxylase deficiency

Answer 48

17 hydroxyprog

Question 49

female effects of deficient 21 hydroxylase or congenitaladrenal hyperplasia

Answer 49

virilization

Question 50

differentiate central precocioub puberty and peripheral

Answer 50

central have elevated FSH and LH | peripheral have low FSH and LH

Question 51

most common cause of congenital hypothyroid

Answer 51

thyroid dysgenesis