Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Peds Clerkship > Endo/Repro/Genetics > Flashcards

Endo/Repro/Genetics Flashcards

1
Q

What are sx of central precocious puberty? Dx? Tx? next step?

A
  • accelerated bone growth
  • high FSH/LH due to early activation HPO axis

Dx: GnRH stimulation test –> LH/FSH should increase

Tx: GnRH therapy to maximize height / prevent epiphyseal closure

next step: do CT/MRI to r/o pituitary/hypothalamus tumor

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What does it tell you if LH/FSH increase by a lot when you give GnRH

A

central precocious puberty

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are sx of peripheral precocious puberty? Dx? next step?

A
  • accelerated bone growth
  • low FSH/LH
  • M will not have enlarged testes

Dx: GnRH stim test –> LH/FSH flat

next step: do pelvic US to look for source of hormone

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is McCune Albright?

A

3 P’s

  • precocious puberty
  • pigmentation (cafe au lait)
  • Polyostotic fibrous dysplasia (bone defects)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is cause of primary dysmenorrhea? Tx?

A

release of prostaglandins from endometrium cause contraction

treat = NSAIDS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are 4 causes of secondary dysmenorrhea?

A

endometriosis: uterosacral nodulartiy, adnexal tender
adenomyosis: uterine tender and enlarged

pelvic infection: CVM

uterine leiomyoma: uterine contour irregularity, heavy bleed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are steps for evaluation primary amenorrhea?

A

if no secondary sex characteristics do pelvic exam/US

  • if uterus present do FSH
  • — increased FSH –> karyotype
  • — decreased –> cranial MRI
  • uterus absent: karyotype and T
  • – 46 XX w/ normal T –> abnormal mullerian dev
  • – 46 XY w/ high T –> androgen insensitivity
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

When is amenorrhea normal?

A

isolated amenorrhea w/ 2ndary sex characteristics normal to 16

w/ absent sex characteristics normal to 14

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are some med treatments for acute abnormal uterine bleed?

A
  • high dose estrogen, progestin, or combined OCP

- tranexamic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is most common cause abnormal uterine bleeding in adolescents?

A

immature HPO axis causing anovulatory cycles

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

When do you treat cryptorchidism? complications? effect of surgery?

A

treat before 1 year
complications _ inguinal hernia, testicle torsion,

surgery decreases but does not eliminate risk of cancer, subfertility; does eliminate risk of torsion

MC complication = subfertility

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is MCC acute scrotal pain/swelling in boy 12+? tx?

A

testricular torsion

= surgical emergency, can save if treat in 4-6 hrs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What ia a varicocele?

A

common after 10 mo
dilation of pampiniform venous plexus
–> bag of worms on palpation, reduced sperm count, reassurance for now, eventually may need surgery

usually L side

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is a hydrocele?

A

accumulation fluid in tunica vaginalis, usually resolves spontaneouls in year 1

dx: transilluminates, do not need to do US for confirmation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is complete androgen insensitivity?

A

46 XY mut androgen receptor
breast dev, absent uterus and upper vagina, cryptorchid testes

minimal or absent pubic/axillary

keep testes in until puberty to help patient reach full height

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is mullerian agenesis?

A

46 X
absent or rudimentary uterus and upper vagina, normal ovaries, breast dev,

normal pubic hair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What is traverse vaginal septum?

A

46 XX
malrotation of urogenital sinus an dmulleim
normal uterus/ ovaries /pubic/ breast
abnormal vagina

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What happens to sex characteristics in turner?

A

normal uterus and vagina w/ streak ovaries

low estrogen, high FSH b/c lack of negative feedback
normal axillary/pubic hair

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is presentation noonan syndrome?

A

short stature, ptosis, webbed neck, shield chest, cryptorchid, edema hand/feet

pulm stenosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is presentation kallman?

A

47 XY, XR failure GNRH and olfactory neurons to migrate

short stature, delayed/absent puberty

anosmia

can be F but usually M

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is presentation klinefelter

A

tall, marfinoid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What presentation / lab values in 21 hydroxylase deficiency?

A
  • virilization
  • vomiting/hypotension
  • low cortisol/aldosterone
  • high testosterone
  • high 17 hydroxyprogesterone
    high Na, high K
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is presentation / lab values in 11B hydroxylase?

A
  • virilizatoin
  • fluid/salt retention, hypertension
  • low cortisol/aldosterone
  • high testosterone
  • high 11 deoxycorticosterone
  • high 11 deoxycortisol
24
Q

What is presentation / lab values 17 a hydroxylase?

A
  • phenotypically female
  • fluid/salt retention, hypertension
  • low cortisol, high testosterone, high mineralocorticoids, high corticosterone
25
Q

What is MC etiology congenital hypothyroid?

A

thyroid dysgenesis

26
Q

What is presentation congenital thyrotoxicosis?

A

tachycardia/tachypnea, irritability, hyperactivity, low birth weight, thrombocytopenia, jaundice, hsm, heart failure

27
Q

what should you think if thyromegaly in a kid?

A

most common = lymphocytic (hashimoto) thyroiditis

28
Q

What is cushing syndrome?

A

moonlike facies, bruises, hypercortisol 2/2 ACTH secreting pituitary tumor

29
Q

What are sx of bilateral adrenal hyperplasia? MCC?

A

cushingoid features

adrenal carcinoma = MC in infants

30
Q

What is MCC cushingoid features in kid?

A

bilateral adrenal hyperplasia

31
Q

What is albright syndrome? lab values?

A

pseudohypoparathryoidism = resistance to action of PTH
- low Ca, high Phos, high PTH

sx: short, delayed bone age, intellect disability, increased bone density, obesity w/ round face + short neck, cutaneous/subcutaneous calcifications, calficiations in basal ganglia

32
Q

What is rickets? sx? labs? xray?

A

lack of vit D

decreased bone mineralization, craniotabes, delayed fontanelle closure, large skull, genu varum, large costochondral joints (never see this in normal)

low/normal Ca/Phos, high alk phos, high PTH, low vit D, low urine Ca

xray: osteopenia, metaphyseal cupping/fraying, epiphyseal widening

33
Q

What is rickets unresponsive to vit D?

A

genetic abnormality in renal tubular absorption

normal Ca, low phos, high urine phos, decreased conversion vit D

34
Q

What is presentation hypoparathyroidism? labs?

A

seizure, numbness, tingling, decreased bone resorption, decreased excretion phos, decreased vit D conversion, decreased absorption Ca

low Ca, high Phos

35
Q

What labs do you see in medullary carcinoma of thryoid?

A

normal Ca/Phos but high calcitonin

36
Q

What is diabetes insipidus? labs?

A

absent vasopression –> have polyuria, polydipsia, hypotonic large volume urine

labs: high Na/K

37
Q

What labs do you see in hyperaldosteronism?

A

low K, high Na, high Cl, alkalosis

38
Q

What is addison disease? labs?

A

combined deficiency glucocorticoids + mineralocorticoids

increased Na loss –> deplete blood volume –> in shock/crisis w/ low Na, high K

normally (not crisis state) will have normal electrolytes b/c compensated

39
Q

What is acanthosis nigricans?

A

dark stainin gof back of neck/shoulders in DM2

40
Q

What do you need to dx DM2?

A
  • fasting glucose > 126 OR
  • 2 hr oral gluocse > 200
    OR
    sx + random glucose > 200
41
Q

What is treatment for labial adhesions?

A

topical estrogen cream for a week

42
Q

What is cri-du-chat? genetics?

A

5p deletion

sx: hypotonia, short, microcephaly, hypertelorism, b/l epicantahl folds, high arched palate, mental retardation, self injury, repetitive behavior, intellect disability

43
Q

What is beckwith wiedemann? genetics?

A

dysregulation imprinted gene ch 11

sx: fetal macrosomia, rapid growth, omphalocele or umbilical hernia, macroglossia, hemihyperplasia
complications: wilms, hepatoblastoma

hypoglycemia at birth b/c fetal hyperinsulinism

do screening ab US and AFP every 3 mo

44
Q

What is patau?

A

trisomy 21

cleft lip(!!), polydactyly, intellect disability, FTT, seizure, cardiac malformations

45
Q

What is prader willi?

A

papa’s gene deleted chr 15
hypotonia, hypogonad, hyperphagia, obesity

few movements in utero from hypotonia

46
Q

What is angelman?

A

mama’s gene deleted chr15

happy puppet, unprovoked bursts of laughter, unusual gait

47
Q

What is edward syndrome?

A

trisomy 18

low birth weight, closed fists, 3rd and 5th digit overlap (!!), microcephaly, prominent occiput, micrognathia, rocker bottom feet, VSD(!!)

48
Q

What is down syndrome? sx? what GI/cardiac/endo abnormalities? physical sx?

A

trisomy 21
GI: duodenal atresia
cardiac: AV canal > VSD > ASD
endo: hypothryoid, DM1

protruding tongue, brushfield spots, redundant neck skin, MR

49
Q

What is fragile X?

A

sx: large head, prominent forehead, joint laxity, large testes, hyperactivity, autism, learning disability

FMR1 gene CGG repeats

50
Q

What is william’s syndrome? what cardiac abnormality?

A

friendly, no social boundaries, love music

supravalvular aortic stenosis

51
Q

What is alport syndrome?

A

hematuria, progressive nephritis, deafness, ocular defects

52
Q

marfan syndrome?

A

marfinoid body –> pectus excavatum, joint hypermobility, scoliosis, long face, palate high arch, crowded teeth

normal intellect

aortic root dilation
upward lens dislocation
mutation fibrillin-1

53
Q

What are most common infections in CF?

A

staph aureus = MC in young kids esp w/ concurrent influenza –> start empiric anti-staph

54
Q

What are GI problems in CF? ultrasound finding?

A

meconium ileus, dilated loops of bowel, microcolon from disuse
prenatal US = echogenic bowel

55
Q

What is major complication of CF?

A

congenital b/l absence vas deferens –> infertility

56
Q

How do you dx CF?

A

sweat test = quantitative pilocarpin iontophoreis –> induce sweat and measure CL > 60

Peds Clerkship (10 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions