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Endo/Repro/Genetics Flashcards

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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

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2
Q

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

A

central precocious puberty

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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

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4
Q

What is McCune Albright?

A

3 P’s

  • precocious puberty
  • pigmentation (cafe au lait)
  • Polyostotic fibrous dysplasia (bone defects)
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5
Q

What is cause of primary dysmenorrhea? Tx?

A

release of prostaglandins from endometrium cause contraction

treat = NSAIDS

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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

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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
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8
Q

When is amenorrhea normal?

A

isolated amenorrhea w/ 2ndary sex characteristics normal to 16

w/ absent sex characteristics normal to 14

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9
Q

What are some med treatments for acute abnormal uterine bleed?

A
  • high dose estrogen, progestin, or combined OCP

- tranexamic acid

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10
Q

What is most common cause abnormal uterine bleeding in adolescents?

A

immature HPO axis causing anovulatory cycles

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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

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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

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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

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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

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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

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16
Q

What is mullerian agenesis?

A

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

normal pubic hair

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17
Q

What is traverse vaginal septum?

A

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

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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

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19
Q

What is presentation noonan syndrome?

A

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

pulm stenosis

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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

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21
Q

What is presentation klinefelter

A

tall, marfinoid

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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
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23
Q

What is presentation / lab values in 11B hydroxylase?

Study These Flashcards
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?

Study These Flashcards
A
  • phenotypically female
  • fluid/salt retention, hypertension
  • low cortisol, high testosterone, high mineralocorticoids, high corticosterone
25
What is MC etiology congenital hypothyroid?
thyroid dysgenesis
26
What is presentation congenital thyrotoxicosis?
tachycardia/tachypnea, irritability, hyperactivity, low birth weight, thrombocytopenia, jaundice, hsm, heart failure
27
what should you think if thyromegaly in a kid?
most common = lymphocytic (hashimoto) thyroiditis
28
What is cushing syndrome?
moonlike facies, bruises, hypercortisol 2/2 ACTH secreting pituitary tumor
29
What are sx of bilateral adrenal hyperplasia? MCC?
cushingoid features | adrenal carcinoma = MC in infants
30
What is MCC cushingoid features in kid?
bilateral adrenal hyperplasia
31
What is albright syndrome? lab values?
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
What is rickets? sx? labs? xray?
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
What is rickets unresponsive to vit D?
genetic abnormality in renal tubular absorption normal Ca, low phos, high urine phos, decreased conversion vit D
34
What is presentation hypoparathyroidism? labs?
seizure, numbness, tingling, decreased bone resorption, decreased excretion phos, decreased vit D conversion, decreased absorption Ca low Ca, high Phos
35
What labs do you see in medullary carcinoma of thryoid?
normal Ca/Phos but high calcitonin
36
What is diabetes insipidus? labs?
absent vasopression --> have polyuria, polydipsia, hypotonic large volume urine labs: high Na/K
37
What labs do you see in hyperaldosteronism?
low K, high Na, high Cl, alkalosis
38
What is addison disease? labs?
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
What is acanthosis nigricans?
dark stainin gof back of neck/shoulders in DM2
40
What do you need to dx DM2?
- fasting glucose > 126 OR - 2 hr oral gluocse > 200 OR sx + random glucose > 200
41
What is treatment for labial adhesions?
topical estrogen cream for a week
42
What is cri-du-chat? genetics?
5p deletion sx: hypotonia, short, microcephaly, hypertelorism, b/l epicantahl folds, high arched palate, mental retardation, self injury, repetitive behavior, intellect disability
43
What is beckwith wiedemann? genetics?
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
What is patau?
trisomy 21 cleft lip(!!), polydactyly, intellect disability, FTT, seizure, cardiac malformations
45
What is prader willi?
papa's gene deleted chr 15 hypotonia, hypogonad, hyperphagia, obesity few movements in utero from hypotonia
46
What is angelman?
mama's gene deleted chr15 happy puppet, unprovoked bursts of laughter, unusual gait
47
What is edward syndrome?
trisomy 18 low birth weight, closed fists, 3rd and 5th digit overlap (!!), microcephaly, prominent occiput, micrognathia, rocker bottom feet, VSD(!!)
48
What is down syndrome? sx? what GI/cardiac/endo abnormalities? physical sx?
trisomy 21 GI: duodenal atresia cardiac: AV canal > VSD > ASD endo: hypothryoid, DM1 protruding tongue, brushfield spots, redundant neck skin, MR
49
What is fragile X?
sx: large head, prominent forehead, joint laxity, large testes, hyperactivity, autism, learning disability FMR1 gene CGG repeats
50
What is william's syndrome? what cardiac abnormality?
friendly, no social boundaries, love music supravalvular aortic stenosis
51
What is alport syndrome?
hematuria, progressive nephritis, deafness, ocular defects
52
marfan syndrome?
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
What are most common infections in CF?
staph aureus = MC in young kids esp w/ concurrent influenza --> start empiric anti-staph
54
What are GI problems in CF? ultrasound finding?
meconium ileus, dilated loops of bowel, microcolon from disuse prenatal US = echogenic bowel
55
What is major complication of CF?
congenital b/l absence vas deferens --> infertility
56
How do you dx CF?
sweat test = quantitative pilocarpin iontophoreis --> induce sweat and measure CL > 60

Peds Clerkship (10 decks)

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