Pedia

Question 1

elevated serum 17-hydroxyprogesterone

Answer 1

Congential adrenal hyperplasia - usually due to deficiency 21-hydroxylase-imparied corticol synthesis; cannot negatively inhibit hypothalamus or pituitary; inc ACTH; inc adrenal androgens

Question 2

symptoms of congenital adrenal hyperplasia, female

Answer 2

ambiguous genitalia at birth or hirsutism and virilism w/ norm menstruation

Question 3

symptoms of congenital adrenal hyperplasia, male

Answer 3

adrenal crisis at birth or precocious puberty

Question 4

Treatment of CAH

Answer 4

cortisol

Question 5

MCC of genital ambiguity

Answer 5

CAH

Question 6

Places newborns at risk for neonatal adrenal crisis due to sodium loss due to absence of aldosterone

Answer 6

CAH

Question 7

what is the cause of irregular menstrual cycles in pubertal females

Answer 7

anovulatory cycles due to immaturity of hypothalamic-pituitary-gonadal axis, not producing adequate proportions of FSH, LH to induce ovulation

Question 8

Pituitary gland location

Answer 8

Sella turcica

Question 9

Rathke’s pouch gives rise to

Answer 9

Anterior pituitary gland

Question 10

MC type of pituitary tumor in children

Answer 10

Rathke pouch craniopharyngioma

Question 11

MC pituitary tumor in adults

Answer 11

Prolactinoma

Question 12

DOC for prolactinoma

Answer 12

Bromocriptine (dopamine agonist)

Question 13

Posterior lobe hormones

Answer 13

OxytocinADH

Question 14

Definitive diagnosis of hypopituitarism

Answer 14

Absent or low levels of GH

Question 15

dz as w/ asymmetric septal hypertrophy and transposition of the gerat vessels

Answer 15

maternal diabetes

Question 16

Polyuria in children

Answer 16

> 5cc/kg/hour

Question 17

DI: Vasopressin deficiency

Answer 17

Central

Question 18

DI: Vasopressin insensitive kidney

Answer 18

Nephrogenic

Question 19

ADH acts on which part of kidneys

Answer 19

CD

Question 20

Etiology of 50% of DI

Answer 20

Brain tumor

Question 21

SG of urine in DI

Answer 21

1.001-1.005

Question 22

Urine osmolality in DI

Answer 22

50-200 mosm/kg

Question 23

Electrolyte derrangement in DI

Answer 23

HypernatremiaHyperchloremia

Question 24

3 P’sPrecocious pubertyPigmentation (unilateral cafe au lait spots - large, irregular borders, no freckling)Polyostotic fibrous dysplasia (multiple bone fractures)

Answer 24

McCune Albright syndrome

Question 25

GI tract polyposis, mucocutaneous pigmentation-estrogen secreting tumor: precocious puberty

Answer 25

Peutz-Jeghers syndrome

Question 26

T/F Peutz-Jeghers polyps are neoplasms

Answer 26

F, hamartomas

Question 27

disorder due to autonomous stimulation of aromatase enzyme prod of estrogens by the ovaries

Answer 27

McCune-Albright syndrome

Question 28

T/F There is an increased risk for cancer in Peutz-Jeghers syndrome

Answer 28

F

Question 29

Most common polyp in GIT

Answer 29

Hypoplastic polyp

Question 30

T/F Hypoplastic polyp is a neoplasm

Answer 30

F, hamartoma

Question 31

MCC of precocious puberty

Answer 31

Hypothalamic hamartoma

Question 32

Precocious puberty in girls

Answer 32

Breast bud before 8 years

Question 33

Precocious puberty in boys

Answer 33

Testicular enlargement before 9

Question 34

Coast of maine pattern

Answer 34

Cafe-au-laite spots of McCune Albright syndrome

Question 35

Treatment for McCune Albright syndrome

Answer 35

Leuprolide acetate

Question 36

47XXY

Answer 36

Klinefelter's syndrome

Question 37

Klinefelter is phenotypically male vs female

Answer 37

Male

Question 38

-hypogonadism-testicular atrophy, tall stature, long extremities, gynecomastia, female hair distribution

Answer 38

Klinefelter's syndrome

Question 39

tall stature, emaciated extremities, arachnodactyly, hypermobility of joints, *upward lens dislocation*, *aortic root dilation*

Answer 39

Marfan

Question 40

Marfan: Inheritance and mutation

Answer 40

Aut dom; Fibrillin-1 gene

Question 41

stroke/thrombotic event; *fair complexion, *lens dislocated downward, *Mentally retarded

Answer 41

Homocystinuria

Question 42

Homocystinuria: Inheritance and deficiency

Answer 42

Aut rec; cystathionine synthase deficiency

Question 43

Homocystinuria: Elevated in blood

Answer 43

HomocysteineMethionine

Question 44

Homocystinuria: Treatment

Answer 44

High doses Vit B6

Question 45

Tall stature is defined as

Answer 45

Taller than 2SD above mean

Question 46

Syndromes associated with tall stature

Answer 46

Sotos syndrome (cerebral gigantismMarfan syndrome

Question 47

Short stature is defined as

Answer 47

>3SD below mean for age and gender

Question 48

Causes of short stature

Answer 48

ConstitutionalHypopituitarism (absent or low GH)Hypothyroidism

Question 49

Syndrome's associated with short stature

Answer 49

Turner syndrome (females)Noonan syndrome (males)

Question 50

MCC of tall stature

Answer 50

Familial/normal variant