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116 Cards in this Set
- Front
- Back
what defines short stature |
two S.D. below the mean |
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kids who grow 2in/year*** (5cm), between 3yo-puberty do NOT have an underlying bad disorder |
if you're 3 S.D. below mean or growing <5cm, then pathology till proven otherwise |
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what findings on perinatal Hx suggest HYPOPITUITARY? |
-hypoglycemia* -prolonged jaundice* -cryptorchidism* -microcephaly |
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see p. 149 BRS for algorithm on short stature |
s |
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kid is 2 S.D.s below the mean for height, but has normal onset PUBERTY, and normal BONE AGE, and grows at least 2in/yearn |
familial short stature |
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kid is short but has LATE puberty and DELAYED bone age, but STILL growing 2in/year |
onstitutional short stature |
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Pathologic short stature |
height is 3+S.D. below and growth velocity is <2in/year |
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short stature, frontal bossing*, bowed legs*, low serum Phos*, high Alk phosphatase* |
rickets |
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lab eval for patients with short stature |
-CBC -ESR -T4 -Ca, Phos, Crt, Bicarb |
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when to mention IGF-1 if you're considered for growth factor deficiency? |
during stage IV sleep |
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imaging for short patients |
-Bone age with xrays of hand/wrist -skull xrays to look for pituitary gland (calcification means craniopharyngioma) |
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patient is growing <2in/year, labs are normal, but IGF-1 is LOW*, and bone age is DELAYED* |
workup for GROWTH HORMONE deficiency* |
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-prolonged neonatal jaundice -hypoglycemia -cherubic face * -central obesity* -microcephally -cryptorchidism -MIDLINE DEFECTS |
could be GROWTH HORMONE def. |
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etiology of growth hormone def. |
-brain tumors (craniopharyngioma) -prior CNS irradiation -CNS vascular malformation -autoimmune -congenital midline defects (ex: single central maxillary incisor or cleft palate*!) |
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what imaging studies should patients with suspected GH def have? |
-bone scan -MRI head to r/o lesion!!! |
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patient is short with low T4, high TSH, and anithyroid peroxidase* antibodies* |
hypothyroid from Hashimotos |
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1st sign of puberty in girls |
breast buds |
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1st sign of puberty in boys |
testicular enlargement |
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poor growth and delayed bone age WITH precocious puberty |
hypothyroidsim |
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levels of FSH, LH, and sex steroids during puberty |
high |
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what happens to LH levels when you give GnRH to patients with central precocious puberty? |
they INCREASE (wouldn't if the precocity was ***PERIPHERAL) |
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any boy with precocious puberty gets what imaging: |
MRI head |
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precocious puberty in a boy WITHOUT testicular enlargement (but still has gynecomastia or pubic hair) |
PERIPHERAL, FSH is not high |
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etiology of periphearl precocious puberty |
-adrenal tumors, hyperplasia -gonadal tumors -steroids |
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assymetric testicular enlargement |
Leydig cell tumor |
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boy has polyostotic fibrous dysplasia, irregular hyperpigmented macules (cafe au lait), and endocrine issues |
McCune-Albright syndrome causing peripheral precocious puberty |
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which sex tumors are unique to BOYS? |
B-HCG secreting tumors !!!! (chest, pineal gland, gonad, liver) |
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Two categories of DELAYED puberty |
1. HyPOgonadotropic hypogonad 1. hyPERgonadotropic hypogonad |
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HyPOgonad hypogonad |
-hypothalamus/pituitary don't work -LOW FSH, LOW LH (nothing to stim them) -LOW test, LOW estradiol (FLAT GnRH stim test) |
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HYPER hypogonad |
-d/t end organ dysfunctin like gonadal failure -HIGH FSH HIGH LH -LOW test, LOW estradiol |
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Hypo hypogonad |
-constitutional ("late bloomers" FHx) -Chronic Dz -hypopituitary -hypothyroid -prolactinoma -KALLMAN* (with anosmia) -Lawrence-Moon-Biedl (obesity, retinitis pigmentosa) |
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hyper hypogonad |
Boys: Klinefelter (XXY) Girls: Turner Autoimmune |
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how to make male INTERNAL sex structures |
1. Leydig=> wolffian ducts (epididymitis, vas def, sem vesic) 2. Sertoli=>anti-mullerian hormone (inhibits upper vagina) |
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what makes testes |
SRY makes testes, testes make Leydig and Sertoli |
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how to make male external sex structures |
1. 5alpha reductase turns TEST-->DHT=>penile enlargement, scortal fusion, masculinizatino of external genitalia |
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no SRY |
default: female gonads |
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female INTERNAL ducts |
no AMH, so wolffian ducts regress and mullerian structures are made |
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female external genitalia |
no DHT or TEST so no virilization |
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boy with ambiguous genitalia, 46XY, at least one palpable testes |
1. inborn error of testosterone synthesis d/t enzyme def. 2. mixed gonadal dysgenisis/true hermaphroditism 3. partial androgen insesitivity |
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enzyme deficiency that lead to LOW TEST==>undervirilized male |
p. 158 |
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internal structures are mix of male and female |
-mixed gonadal dysgenesis (45XO/46XY mosaicism, often have a "streak gonad" on one side) -true hermophrodite (both ovary and testes both sides 46XX or 46XY) |
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COMPLETE androgen insensitivity leads to: testicular feminization syndrome |
-look female outside, but 46XY |
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girl who is XX with ambious genitalia and no palpable gonads |
1. CAH d/t 21hydroxylase deficiency (most common**) 2. virilizing drug used by mom while prego 3. virilizing tumor in mom while prego |
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ambious genitalia and HYPOTENSION |
adrenal insufficiency |
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ambiguous genitalia and HTN |
Congenital adrenal hyperplasia with 11B-OH deficiency |
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adrenal cortex makes: |
steroids |
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adrenal medulla makes: |
catecholamines |
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what 3 things does adrenal CORTEX make? |
1. mineralcorticoids (aldo) 2. glucocorticoids (cortisol) 3. androgens (DHEA) |
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how is mineralcorticoid (aldo) synthesis controlled |
via RAAS (NOT* with ACTH or pituitary, doesn't matter!) |
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how is glucocorticoid and andreogen synthesis controlled? |
ACTH via hypothalamus-pituitary axis |
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Primary adrenal insufficiency |
-enzyme deficiency destroys adrenal CORTEX==>Hypotension, HypoNat, more pigment (no cortisol) & hyperK, hypoNat (no aldo) Ex: Addison's Dz, CAH, adrenoleukodystrophy |
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Secondary adrenal insufficiency |
-something interferes with RELEASE of CRH from hypothalamus or ACTH from pituitary
Ex: pituitary tumor, Langerhans cell hystiocytosis, STEROID use suppresses HPA |
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normal K |
secondary adrenal insufficiency (because ALDO isn't affected because it responds to RAAS*) |
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Congenital Adrenal Hyperplasia |
-aut. recessive -primary adrenal insufficiency in childhood -#1 cause ambiguous genitalia when no gonads palpable* -basically leads to INCREASED androgen production |
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most common enzyme deficiency leading to CAH |
21-hydroxylase deficiency
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3 types of 21-hydroxylase deficiency |
1. Classic salt-wasting (low CORTISOL, low ALDO) 2. Simple virilizing (low CORTISOL) 3. Nonclassic (mild low CORTISOL) |
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1-2week old boy/girl presents with FTT, vomiting, electroyte disturbance |
classic salt-wasting CAH |
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no electrolyte abnormalities and ambiguous genitalia |
simple virilizing CAH |
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1-4yo boy is tall, precocious puberty |
simple virilizng CAh |
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HTN and hypOK with ambig genit |
11b hyroxylase def |
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high 17-OHP levels |
21 hydroxy def. |
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high 11-deoxycortisol (specific compound S*) |
-11b hydroxylase df |
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Tx of CAH |
-cortisone to suppress ACTH (lower androgen production but not so much that can't even grow) -fluorocortisol to normalize renin (if aldo missing as well) -frequent f/u |
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Acquired Adrenal Insufficiency |
1. Steroids 2. Addisons (autoimmune destruction of cortex by lymphocytes) 3. Waterhouse-Friderichson |
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Addisons |
can detect antibodies to adrenal cortex & also have Hashimotos and DM1 or HypoPTH and candidiasis |
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Waterhouse-Frid |
acute adrenal hemorhage in baby with septicemia (usually d/t meningococcemia) |
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cortisol level shoudl DOUBLE when you give ACTH in normal person |
if not, suspect primary adrenal insufficiency |
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acute Tx of adrenal crisis (E!!!) |
-IVG -STEROIDS |
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Excess glucocorticoid (cortisol) |
-moon facies, slow bone growth, easy bruising, HTN, etc 1. Cushing Syndrome (d/t adrenal tumors) 2. Cushing disease (too much ACTH by pituitary tumor) |
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Dx of hypercortisolism |
-elevated free cortisol in urine -no cortisol suppression overnight with Dexamthesone
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cortisol excess or just obese? |
if obese then would grow fast too and have fast bone growth |
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95% of patients with DM1 have what haplotype? |
HLA DR3 or DR4 |
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findings in DM1 |
-antibodies to islet cells |
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Dx DM1 |
random gluc >200 with polyuria and polydipsi, weightloss, nocturia |
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what happens if EVENING dose of insulin is too high? |
morning Hypoglycemia-->EP & Glucagon release to balance-->high Gluc & ketones in A.M.-->Tx; LOWER*** bedtime insulin dose (you'd think youd raise it though cause high Gluc, wrong) |
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definition of DKA |
gluc >300, ketonuria, bicarb<15 or pH<7.3 |
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HYPERK in DKA |
K moves out of cells so H can go inside to correct for the acidosis |
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Causes of congenital HyPOthyroidism |
-thyroid dysgenesis #1 cause (hypoplasia or aplasia or ectopic somewhere else) -thyroid dyshormonogenesis (inborn errors of thyroid hormone* synthesis, goiter, hearing loss) -PTU during prego for Grave's Dz -maternal autoimmune thyroid dz |
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Tx for congenital hypothyroidism |
L-thyroxine right away (even before sx) cause otherwise wil have bad neuro stuff |
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lymphocytes invade thyroid gland==>follicular fibrosis, atrophy, hyperplasia |
Hashimotos: #1 cause of ACQUIRED hypothyroidism |
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marker for autoimmune thryoid dz |
antiperoxidase antibodies!!! |
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Hyperthyroidism |
Graves dz (diffuse toxic goiter!!!*) |
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TSH-look alike antibody overstimulates thyroid to make T4 |
Graves (autoimmune) |
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thyroid stimulating immunoglobulin |
Graves |
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Tx hyperthyroidism |
PTU(also inhibits peripheral T3,4), methimazole |
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vitamin D and PTH |
release Ca & Phos from bone |
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PTH |
Ca: release from bone and reabsorption from kidney Phos: rlease form bone and excretes from kidneys |
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how does PTH act to increase Ca reabsorp in kidney? |
stimulates 1,25 |
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all low calcium levels should have IONIZED Ca level measured to make sure it's true |
otherwise could be d/t low albumin (like in nephrotic syndrome) |
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-Tetany (laryngospasm, painful spasm of wrists etc) -paresthesias -seizures |
low Calcium! |
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Hypomag can lead to |
HypoCa |
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hypoCa in baby older than 4days |
-HypoPTH -DiGeorge -HyperPhos
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if mom has high serum calcium, can cross placenta and suppress fetal PTH |
transient hypocal hypoPTH in newborn |
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how does hyperPhos lead to hypoCa |
binds it |
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what study to get with hypoCa? |
EKG to check for long QT |
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hypoCa Tx |
-usually oral, IV calcium gluconate if more sx -give 1,25 (calcitriol) if chronic hypoPTH |
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Rickets |
low vD causes deminiralization of bone with NORMAL BONE MATRIX* |
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kid has normal Ca, low Phos (leaking out from renal tubules), bow legs, NO tetany |
vitamin D resistance==> rickets (familial hypophosphatemia, X linked dominant) |
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Diabetes Insipidus |
can't concentrate* urine d/t LOW ADH* or Kidney NOT RESPONDING* to ADH |
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Central DI |
not enough ADH |
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Nephrogenic DI |
kidney is resistant to ADH |
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What can cause central DI? |
-autoimmune antibodies attack ADH producing cells -HIE -hypothalamic brain tumor -Langerhans cell histiocytosis -Granulomatous Dz (TB/sarcoidosis) -aneurysms -genetic |
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cause of Nephrogenic DI |
-x linked recessive |
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dilute urine with HyperNat and high serum osmolality |
DI |
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early morning urine with sp grav >1.018 |
RULES OUT DI***! |
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deprive kid of water, and still can't concentrate urine and serum osm is rising |
DI |
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kid still can't conct urine when given ADH |
nephrogenic DI |
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imaging in DI |
-bone scan to r/o langerhans -MRI to look for absence of hyperintense signal in post pituit |
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Tx for CENTRAL* DI |
DDAVP |
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hypoglycemia |
<40 |
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baby with hypoglycemia |
lethargy, jerks, cyanotic, apnea, seizures |
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older kid with hypoglycemia |
tachy, sweating, tremor, HA, seizure |
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Neonatal hyperglycemia |
1. transient (mom was diabetic) 2. perisitent -3+days |
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perisistent hypoglcemia in neonate |
1.Hyperinsulin: Islet cell hyperplasia (Nesidioblastosis) 2. genetic defect in carb matabolism (glycogen storage dz or glactosemia) or amino acid metabolism (MSUDz, Tyrosinemia, methylmalonic acidemia) 3. hormone def. |
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neonate with hypoglycemia, microcephaly, cleft palate |
congenital hypopituitary!!8 |
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1-6yo with hypoglycemia |
#1: Ketotic hypoglycemia (late morning with ketonuria and low insulin bc kid can't adapt to fasting state) -usually post infection and kid is thin |