Endo Flashcards
3.2kg, phallus short and chordee, and urethra is visible at base of phallic strucutrre and has mass like testis in inguinal canal
Female CAH, B male CAH, C gonadal dysgensis D-turner E undervirilized male
undervirilized male
4yo M has pubic hair, tanner 3. His testis 2ml bilat. Testoerone 7.8 (n is 1.8) and bone age 7 yr A- central precocious, B CAH, C craniopharynioma D cushing, E premature adrenarche
B CAH,
4yo M has pubic hair, tanner 3. His testis 2ml bilat. Testoerone 7.8 (n is 1.8) and bone age 7 yr A- central precocious, B CAH, C craniopharynioma D cushing, E premature adrenarche
CAH
if bone age is advanced by more then 2 years, then think adrneal origin
- not premature adrenarche in this case cuz BA is advanced
15yo with lack of puberty. Height is third centile, pubic hair is tanner 1, and testis 6ml bilaterally. His bone age 12yo
MOST LIKELY - constituional growth delay (esp with the bone age delay)
6yo black girl, with breast and pubic hair with no vaginal bleeding.
a-Non classical CAH (should be JUST virilization if CAH)
b-Normal puberty onset given racial background
c-Autonomous functioning ovarian cyst
d- Central precocious puberty,
next test to confirm LH/FSH
Central precocious puberty,
Child has autoimmune thyroiditis, want to monitor therapeutic treatment of levo, how do you do this?
a) TSH
b) FT4
c) T4
d) Thyroid peroxisome
a) TSH
For adolescent girls, which would be the most concerning in terms of height velocity
a) Tanner stage 2, growing 6cm/year
b) Tanner stage 3, growing 4cm/year
c) Tanner stage 4, growing 5cm/year
d) Tanner stage 5, growing 1cm/year
Tanner 3 at 4 cm
Which of the following is most consistent with a boy who is tanner 3?
Increased axillary hair
Voice deepening
Pubic hair is becoming curly
pubic hair curly
10 year old girl with an enlarged thyroid, diffuse nontender. T4 6.6 TSH >50, thyroid antibodies positive. What is your next step in management?
- Start methimazole
- Order thyroid ultrasound
- Order radionuclide scan
- Start levothyroxine
tart levothyroxine
A 7 year old boy has had type 1 diabetes for the last 3 years. If this does not result in
excessive hypoglycemia, what should the target be for his HbA1C?
a. 6.5%
b. 7.0%
c. 7.5%
d. 8.0%
c. 7.5%
Goal
<6 : 8
6-12 :< 7.5
teens : <7
A neonate’s newborn screen shows a TSH of 45. What is the NEXT step in management?
a. Book a visit for a physical exam
b. Order a TSH + free T4
c. Order a radionuclide thyroid scan
Order a TSH + free T4
A 13yo boy has become more withdrawn over the last year and seems only interested in his
friends and his computer. He has difficulty waking up in the morning and seems tired. Which
is the next step in management?
a. TSH
b. Tox screen
c. Refer to psychology
a. TSH
6 yo girl is referred to you for short stature. She is growing on the 3rd %, weight on the 50%. Her physical exam is normal. Her growth velocity is 3 cm/year and her bone age is 4 years. What is the most likely diagnosis?
a. Growth hormone deficiency,
b. Turner syndrome
c. Achrondrodysplasia
a. Growth hormone deficiency,
Teenage girl with pigmented tongue, hyponatremia. What is the best way to make a definitive diagnosis? a. ACTH level b. AM cortisol c. ACTH stim test d. 17 OHP
c. ACTH stim test
A child is noted to be drinking ++ water and has very dilute urine. What is the most likely diagnosis?
a. Psychogenic polydipsia -
b. SIADH
c. Diabetes
psychogenic or diabetes
Psychogenic polydipsia - hyponatremia, low urine osmolality
b. SIADH - would have concentrated urine and decreased u/o with hyponatremia
c. Diabetes (DM would cause high SPecific gravity,
d. DI could give this picture..)
Male teen who is football player. Has gynecomastia, hepatitis, and jaundice. Most likely taking:
Anabolic steroids
Growth hormone
Creatine
anabolic
Father 175 cm. Mother 155 cm. What is Midparental height for a boy? 165 167 169 171
171
Best test for nutritional Vit D deficiency Ca 1,25 Vit D 25 Vit D PTH
25 vit D
Longer half life
calcitriol (1,25 OH Vit D-active form)
calcidiol is the 25 OH form that is stable (before kidney converts) and best TEST
A four year old girl presents with new onset diabetes mellitus. Her initial labs reveal a glucose of 18, pH 7.14, bicarb 11. Her neurologic examination and level of alertness are initially normal. However, after 2 hours of insulin infusion, she suddenly becomes lethargic and unresponsive. What is the most appropriate initial action?
1) Obtain bedside glucose reading
2) Draw calcium, magnesium and phosphate levels
3) Start IV antibiotics
4) Give mannitol
Obtain bedside glucose reading
A 6 yo girl with precious puberty symptoms (vaginal bleed, accelerated growth), multiple Cafe Au Lait, bone abnormalities. What to test to order?
a. Genetic test for NF1
b. Echo for rhabdomyoma
c. Screen for other endocrinopathy
screen for other-
McCune-Albright Syndrome (MAS) is a rare disorder defined as the triad of peripheral precocious puberty, irregular café-au-lait (“Coast of Maine”) skin pigmentation, and fibrous dysplasia of bone
This mutation leads to continued stimulation of endocrine function (eg, precocious puberty, thyrotoxicosis, gigantism or acromegaly, Cushing syndrome, and hypophosphatemic rickets)
metabolic acidosis after fasting with URTI. No ketones. Hypoglycaemia. Mildly raised LFTS.
- FAOD
- Mitochrondrial
- Hyperinsulinism
- FAOD
13 year old girl presents to the ED with a generalized tonic clonic seizure. Her parents say she’s been drinking a lot of water recently. Her labs: Na 118, Cl 86, osm 262, Urine Na 20, serum urine osm 68. What’s the MOST likely diagnosis? T1DM Psychogenic polydipsia SIADH - Adrenal insufficiency
normal serum osm =300
normal urine osm is 1/2 that
its psychogenic
T1DM (N urine osm)
Psychogenic polydipsia
SIADH - concentrated urine
Adrenal insufficiency (?) - hypoglycemia, hyponatremia, hyperkalemia, ketosis, shouldn’t have dilute urine
What is the best way to monitor effectiveness of thyroid replacement in autoimmune thyroiditis? A. T4 B. free T4 C. T3 d. TSH
TSH
2 year female with onset of thelarche. Bone age and stature 3 years. What do you tell her mom?
Will resolve
Gradual progression to puberty
Fast progression to puberty
Will resolve
13 year old female who had menarche at 11. Presents with menomethorrhagia, Hgb 84. Most likely cause?
- Von Willebrands
- Increased Progesterone
- Decreased Estrogen
- Prolonged endometrial buildup
Von Willebrands
8 year old (no description of his health). Parents with DM2, when to screen for DM2? Now At puberty At 10 With more risk factors
≥3 risk factors in nonpubertal or ≥2 risk factors in pubertal children [Grade D, Consensus]
Obesity (BMI ≥95th percentile for age and gender)
Member of a high-risk ethnic group (e.g. Aboriginal, African, Asian, Hispanic or South Asian descent)
Family history of type 2 diabetes and/or exposure to hyperglycemia in utero
Signs or symptoms of insulin resistance
- At what BMI should the pediatrician provide intervention?
a. 75th %ile
b. 85th %ile
c. 95th %ile
d. 99th %ile
85th centile
Child with perineoscrotal hypospadias, enlarged phallus, non-palpable testicles. a.congenital adrenal hyperplasia b. 5-alpha reductase deficiency c.partial androgen insensitivity d nrmal male
CAH
6 year old child with pubic hair. Bone age 6 1/2 years. Most likely dx?
a. craniopharyngioma
b. benign premature adrenarche
b. benign premature adrenarche
6 year old child who was growing 2 cm/year, height now <5th percentile and 50% for weight. Bone age 4 years. Diagnosis?
a. Celiac disease
b. GH deficiency
c. Turner syndrome
INV- w/u includes IGF1, IGFBP3 (binding protein 3), and bone age (after ruled out Turner and skeletal dysplasia
INV- w/u includes IGF1, IGFBP3 (binding protein 3), and bone age (after ruled out Turner and skeletal dysplasia
6 year old child with vaginal bleeding, no foreign body, no exogenous estrogen sources. Has bone age of 7.5 years, 17-OPH normal, what is dx?1.
Premature menarche
CAH - usually virilization
craniopharyngioma
premature adrenarche
premature mearche
r/o FB, urethral prolapse
What would be the difference between psychogenic polydipsia and diabetes insipidus?
a. Dilute urine
b. Diarrhea
c. Hypernatremia
c. Hypernatremia
Conditions where there is a discrepancy between chronologic age and bone age
a) .contistitional delay of gorwht and puberty
b. failure to thrive
c. psychosocial deprivation?
d. malnutrition
constiutional delay of growth and puberty
what length of penile is question of dsd and cliteral issue
remember 17 ohp increases in 48 hours and salt wasting takes a week
penile stretch of less then 2,5 cm
clitoromegaly is 9mm or bigger
and the AG ratio of more hten 0.5 concerning so far from vag bottom to anus then penis base to anus
what antibodies involed with graves and hashimoto
hashimoto- hypothyroidism
- anti-tpo (thyroid peroxidase) and thyrogobulin antibodies
graves . hyperthyroidism
thyrotropin stimulating antibodies or TRAB treatment with methimazole
osteoporosis
concerning # history?
more then 2 long bone # by 10yo or 3 by 19 or any vertebral compression # more then 20% concerning for osteoporosis
management of dka ph<7.25, hc03 <15 rf for cerebral edema 1- young<5 2- new diagosis 3- high pc03 4-high urea 5- rapid hypotonic solition 6- insulin bolius 7- early insulin within hour of fluids 8-failure of Na to rise with treatment 9 - use of bicarb
1- small bolus if dehdrated
2- 1 hour ivf 5-7cc/kg of NS and add 40 if k<5.5
3- add slow insulin infusion 0.1 units per kg per hour
lytes q4 and gas q2
4- add glu once glu <15
5- goal drop serum osm by <3 an hour6
6- ph normal and bicarb above 18 then switch to subcut insulin
monitor lytes, osmolality, gas, cr/ur, anion gap
target goals for t1dm sugars and a1c and retinopahty, metabollic and nephropathy guidelines
insulin rquirements are 0.5-1 u/kg/d pre pubertal and 1-2 adolescent age
if less then 6- target 8 (8,5) if alot of hypoglycemia with fbg 6-10
6-12 target 7.5 or 8 with hypogly and fbg 4-10
if 13 or older then <7 goal and fbg4-7.
(remember if hemoglinopathy use fructosamine or albumin to measure control)
for hypoglycemia - give iv bolus 0.5g/kg,or 2ml/kg d10- or IM glucagon of 0.5-1mg - keep glu 8 or above. reduce insulin dose by 20%
think abut celiac and addisons
also counter reg hormones- glucagon, epi, cortisol, gh
tsh and thyroperixodase levels are q2year
if positive then q6 mo
addison -if recc hypoglycemia or dec need for insulin wiht 8am serum cortisol. sodoum and potassium
celiac if gi sx or fatigue anemia or poor weight and growth
complications of diabetes:
retinopathy- check yearly at 15yo if had disease for 5 y
renal dysfunction, check at 12yo ACR in AM–tx give ace inh (dietary protein restiction, control bp, control hypergly)
htn check q6 mo
dislipdiemia at 12 and 17 yo, or if >95th centile with fmhx of CAD or hyperlipid: fasting total chol. hdl, tg, ldl
neuropathy- postpubertal screen 5y with disease with poor metbaolic control - questionnatire
screening guidelines for t2dm both cda fasting blood glu q2 years: for cda if prepub 3 rf, if post pubert 2 rf including 1-obestiy bmi 95 member of high risk ethicni, aborigial, africa, asia, south asia, hispanic fmhx or hyperglycemia exposure in utero insulin resistence-acanthrosis, htn, nafld
or use of atypicals
cps states
do fasting gly, or random or ogtt
if ALL;
1-high risk popn, 2 bmi 85, age 10
and 1 of; sednedary, gdm, 1/2nd degree relative, actanthrosis, dislipid, pcos or htn
tx 6 mo life style as long as a1c<9, then metformin or if ketones then insulin
screen from diagnosis and yearly - dyslipid, htn, nafld, nephropathy, neuropathy, pcos, retinopathy
hyperinsulinsm>5microU/ml with hypoglycemia
remember prevents ffa and ketosis
and have inappropriate response to glucagon
normal gir6-8
if defect is in counter reg protein- hypopit- microcsph, and nystagmus, with midline issues - serum has KETONES and FFA
ALSO ketotic hypoglycemia is diagosis of exclusion - 18mo-5yo usualy skinny with hx of SGA, problem with alanine mobilization, usu resolve by 8yo
hypoglycemia differential in childhood 1-gsd 2- mcad or valproate intox 3- galactosemia 4- insulin or prorpanol 5- ethanol ingestion 6- hyperinsulisnm 7-idiopathic ketotic hypoglycemia 8- addison
CRITICAL SAMPLE
3G, 2C, FLIB
gas
glucose
gh
cortisol
c peptide
ffa, lactate, insulin, beta hydroxybutyrate
urine; ketones and reducing usbstances
tox screen
?acetoacetate
normal length growth <12mov- 18-25, 12-24mo 10cm 24-mo-36mo-7.5-10 child 5-6 adolecent 6-9cm ater menarche 7cm total
endo . causes - turner (shox gene missing) hypothyroidism,
gh approved for turner, chronic renal diseas,e SGA that did not catchup and idipathic short stature
GH influneced by intact thyroid function- resembles insulin
non endocrine causes of short stature- russel silver (clyndactyl 5th finger), albright, prader willi, turner, nutrition, ftt
gh deficiency - or laron (where no receptor) depressed nasal bridge, frontal bossing, micropenis, hypgylcemia, hyperlipdiemia., central issues at borth like bifid uvula, treatment with
growth hormine - inc risk of SCFE AND PSEUDOTUMOR CEREBRI
hypothyroid
tsh more then 40 treat plus imagin with radionucleiotide uptake scan and ultrasound, serum thyroglobulin, urine iodine and treat right away with levo 10mcg/kg
and off soy formula
sx- macroglossia, hypotonia, umbilical hernia, lethargic, poor feeding, constipation, hypothermia, large post fontanelle, jaundice, dry skim, hoarse cry, acrocyanosis
hypothyroid
tsh more then 40 treat plus imagin with radionucleiotide uptake scan and ultrasound, serum thyroglobulin, urine iodine and treat right away with levo 10mcg/kg
and off soy formula
use ft4 to initiate treatment but tsh to track q6mo, and 6w after any dose adjusment
sx- macroglossia, hypotonia, umbilical hernia, lethargic, poor feeding, constipation, hypothermia, large post fontanelle, jaundice, dry skim, hoarse cry, acrocyanosis
vs hyperthyroidsim -polycythemia, irritble, , tachy, heart failure, warm, moist, hsm, hyperphagia, microcephaly, poor sleep, prem
who at risk of hypothyroidism
what meds can cause psuedotumor cerebri - levo initiation, growth hormone, minocycline, csa, ocp, isoretinoids, vit A and phenytoin
t1dm, turner, downs, celiac, klinefelter, addison, ms, sjogren
aps 1- hypoparathyroid addison, candida
aps2- t1dm, addison, autoimm thyroid
pth effects
remmeber measure 25 vit d for level as half life 2-3 w
1.25 vit d is the active form and lasts 4 horus
1- reabsorp ca from kidney, inc phsophate excretion
2- mobilize ca from bone
3- increase vit d secretion (which inc ca and phosphpate absorption from the gut)
causes of hypocalcemia
low pth- ie, digorge, anatomiical problem
x linked hypopth, apeced(autoimmmune)
, wilson, albright, vit d defieincy, low magnesium
tx vit d, mag, ca carb
osteoporosis- caused by marfan, oi, ehlers, hypogonadism like turner or klinfelter, or jdm, sle, ibd, steroids, alcohol, csa, chemo
causes of hypercalcemia
hyper pth - men2, tumor hyper vit d subcut fat necrosis, sarcoidosis williams syndrome hyperthryoid
tx, hyperhydration, calcitonin, bisphoshphatate
RICKETTS
high alp
high pth - calcipenic- vit d deficiency (anti sezuire meds can cause this) or hgih dose furoseide tx 1.25 vit d and cal
low pth - phosphopenic - aka fgf23 deficiency or fanconi by losing phosphate through the kidney - NORMAL ca and low phospjhate, tx vit d and phosphate
oi - has blue sclera, wormian bones, short stature, scoliosis, dentinogenesis imperrfecta
external male genitalia from dht from testerosterone covnerted via 5 alpha reducatase
mis - regresses mullerian duct which prevents uterus tiubes and 1/2 upper vag
dsd workup
testosterone, dhea, dht, androstendione, lh fsh and ultrasound
if you have gonads ddx XY
- ais, partial ais
- 5 alpha reductase defieincy
- gonad dysgeneisis
- hypopit
- adrenal hyperplasia
no gonads ddx- gonadal XX
-dysgensis, androgen excess from cah, aromatase def or matenral androgens
