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CDB PEARLS > Pedia > Flashcards

Pedia Flashcards

1
Q

elevated serum 17-hydroxyprogesterone

A

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

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2
Q

symptoms of congenital adrenal hyperplasia, female

A

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

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3
Q

symptoms of congenital adrenal hyperplasia, male

A

adrenal crisis at birth or precocious puberty

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4
Q

Treatment of CAH

A

cortisol

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5
Q

MCC of genital ambiguity

A

CAH

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6
Q

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

A

CAH

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7
Q

what is the cause of irregular menstrual cycles in pubertal females

A

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

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8
Q

Pituitary gland location

A

Sella turcica

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9
Q

Rathke’s pouch gives rise to

A

Anterior pituitary gland

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10
Q

MC type of pituitary tumor in children

A

Rathke pouch craniopharyngioma

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11
Q

MC pituitary tumor in adults

A

Prolactinoma

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12
Q

DOC for prolactinoma

A

Bromocriptine (dopamine agonist)

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13
Q

Posterior lobe hormones

A

OxytocinADH

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14
Q

Definitive diagnosis of hypopituitarism

A

Absent or low levels of GH

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15
Q

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

A

maternal diabetes

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16
Q

Polyuria in children

A

> 5cc/kg/hour

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17
Q

DI: Vasopressin deficiency

A

Central

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18
Q

DI: Vasopressin insensitive kidney

A

Nephrogenic

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19
Q

ADH acts on which part of kidneys

A

CD

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20
Q

Etiology of 50% of DI

A

Brain tumor

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21
Q

SG of urine in DI

A

1.001-1.005

22
Q

Urine osmolality in DI

A

50-200 mosm/kg

23
Q

Electrolyte derrangement in DI

A

HypernatremiaHyperchloremia

24
Q

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

A

McCune Albright syndrome

25
Q

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

A

Peutz-Jeghers syndrome

26
Q

T/F Peutz-Jeghers polyps are neoplasms

A

F, hamartomas

27
Q

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

A

McCune-Albright syndrome

28
Q

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

A

F

29
Q

Most common polyp in GIT

A

Hypoplastic polyp

30
Q

T/F Hypoplastic polyp is a neoplasm

A

F, hamartoma

31
Q

MCC of precocious puberty

A

Hypothalamic hamartoma

32
Q

Precocious puberty in girls

A

Breast bud before 8 years

33
Q

Precocious puberty in boys

A

Testicular enlargement before 9

34
Q

Coast of maine pattern

A

Cafe-au-laite spots of McCune Albright syndrome

35
Q

Treatment for McCune Albright syndrome

A

Leuprolide acetate

36
Q

47XXY

A

Klinefelter’s syndrome

37
Q

Klinefelter is phenotypically male vs female

A

Male

38
Q

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

A

Klinefelter’s syndrome

39
Q

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

A

Marfan

40
Q

Marfan: Inheritance and mutation

A

Aut dom; Fibrillin-1 gene

41
Q

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

A

Homocystinuria

42
Q

Homocystinuria: Inheritance and deficiency

A

Aut rec; cystathionine synthase deficiency

43
Q

Homocystinuria: Elevated in blood

A

HomocysteineMethionine

44
Q

Homocystinuria: Treatment

A

High doses Vit B6

45
Q

Tall stature is defined as

A

Taller than 2SD above mean

46
Q

Syndromes associated with tall stature

A

Sotos syndrome (cerebral gigantismMarfan syndrome

47
Q

Short stature is defined as

A

> 3SD below mean for age and gender

48
Q

Causes of short stature

A

ConstitutionalHypopituitarism (absent or low GH)Hypothyroidism

49
Q

Syndrome’s associated with short stature

A

Turner syndrome (females)Noonan syndrome (males)

50
Q

MCC of tall stature

A

Familial/normal variant

CDB PEARLS (27 decks)

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