Pedes Brs Endo

Front 1

what defines short stature

Back 1

two S.D. below the mean

Front 2

kids who grow 2in/year*** (5cm), between 3yo-puberty do NOT have an underlying bad disorder

Back 2

if you're 3 S.D. below mean or growing <5cm, then pathology till proven otherwise

Front 3

what findings on perinatal Hx suggest HYPOPITUITARY?

Back 3

-hypoglycemia*

-prolonged jaundice*

-cryptorchidism*

-microcephaly

Front 4

see p. 149 BRS for algorithm on short stature

Back 4

s

Front 5

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

Back 5

familial short stature

Front 6

kid is short but has LATE puberty and DELAYED bone age, but STILL growing 2in/year

Back 6

onstitutional short stature

Front 7

Pathologic short stature

Back 7

height is 3+S.D. below and growth velocity is <2in/year

Front 8

short stature, frontal bossing*, bowed legs*, low serum Phos*, high Alk phosphatase*

Back 8

rickets

Front 9

lab eval for patients with short stature

Back 9

-CBC

-ESR

-T4

-Ca, Phos, Crt, Bicarb

Front 10

when to mention IGF-1 if you're considered for growth factor deficiency?

Back 10

during stage IV sleep

Front 11

imaging for short patients

Back 11

-Bone age with xrays of hand/wrist

-skull xrays to look for pituitary gland (calcification means craniopharyngioma)

Front 12

patient is growing <2in/year, labs are normal, but IGF-1 is LOW*, and bone age is DELAYED*

Back 12

workup for GROWTH HORMONE deficiency*

Front 13

-prolonged neonatal jaundice

-hypoglycemia

-cherubic face *

-central obesity*

-microcephally

-cryptorchidism

-MIDLINE DEFECTS

Back 13

could be GROWTH HORMONE def.

Front 14

etiology of growth hormone def.

Back 14

-brain tumors (craniopharyngioma)

-prior CNS irradiation

-CNS vascular malformation

-autoimmune

-congenital midline defects (ex: single central maxillary incisor or cleft palate*!)

Front 15

what imaging studies should patients with suspected GH def have?

Back 15

-bone scan

-MRI head to r/o lesion!!!

Front 16

patient is short with low T4, high TSH, and anithyroid peroxidase* antibodies*

Back 16

hypothyroid from Hashimotos

Front 17

1st sign of puberty in girls

Back 17

breast buds

Front 18

1st sign of puberty in boys

Back 18

testicular enlargement

Front 19

poor growth and delayed bone age WITH precocious puberty

Back 19

hypothyroidsim

Front 20

levels of FSH, LH, and sex steroids during puberty

Back 20

high

Front 21

what happens to LH levels when you give GnRH to patients with central precocious puberty?

Back 21

they INCREASE (wouldn't if the precocity was ***PERIPHERAL)

Front 22

any boy with precocious puberty gets what imaging:

Back 22

MRI head

Front 23

precocious puberty in a boy WITHOUT testicular enlargement (but still has gynecomastia or pubic hair)

Back 23

PERIPHERAL, FSH is not high

Front 24

etiology of periphearl precocious puberty

Back 24

-adrenal tumors, hyperplasia

-gonadal tumors

-steroids

Front 25

assymetric testicular enlargement

Back 25

Leydig cell tumor

Front 26

boy has polyostotic fibrous dysplasia, irregular hyperpigmented macules (cafe au lait), and endocrine issues

Back 26

McCune-Albright syndrome causing peripheral precocious puberty

Front 27

which sex tumors are unique to BOYS?

Back 27

B-HCG secreting tumors !!!! (chest, pineal gland, gonad, liver)

Front 28

Two categories of DELAYED puberty

Back 28

1. HyPOgonadotropic hypogonad

1. hyPERgonadotropic hypogonad

Front 29

HyPOgonad hypogonad

Back 29

-hypothalamus/pituitary don't work

-LOW FSH, LOW LH (nothing to stim them)

-LOW test, LOW estradiol

(FLAT GnRH stim test)

Front 30

HYPER hypogonad

Back 30

-d/t end organ dysfunctin like gonadal failure

-HIGH FSH HIGH LH

-LOW test, LOW estradiol

Front 31

Hypo hypogonad

Back 31

-constitutional ("late bloomers" FHx)

-Chronic Dz

-hypopituitary

-hypothyroid

-prolactinoma

-KALLMAN* (with anosmia)

-Lawrence-Moon-Biedl (obesity, retinitis pigmentosa)

Front 32

hyper hypogonad

Back 32

Boys: Klinefelter (XXY)

Girls: Turner

Autoimmune

Front 33

how to make male INTERNAL sex structures

Back 33

1. Leydig=> wolffian ducts (epididymitis, vas def, sem vesic)

2. Sertoli=>anti-mullerian hormone (inhibits upper vagina)

Front 34

what makes testes

Back 34

SRY makes testes, testes make Leydig and Sertoli

Front 35

how to make male external sex structures

Back 35

1. 5alpha reductase turns TEST-->DHT=>penile enlargement, scortal fusion, masculinizatino of external genitalia

Front 36

no SRY

Back 36

default: female gonads

Front 37

female INTERNAL ducts

Back 37

no AMH, so wolffian ducts regress and mullerian structures are made

Front 38

female external genitalia

Back 38

no DHT or TEST so no virilization

Front 39

boy with ambiguous genitalia, 46XY, at least one palpable testes

Back 39

1. inborn error of testosterone synthesis d/t enzyme def.

2. mixed gonadal dysgenisis/true hermaphroditism

3. partial androgen insesitivity

Front 40

enzyme deficiency that lead to LOW TEST==>undervirilized male

Back 40

p. 158

Front 41

internal structures are mix of male and female

Back 41

-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)

Front 42

COMPLETE androgen insensitivity leads to: testicular feminization syndrome

Back 42

-look female outside, but 46XY

Front 43

girl who is XX with ambious genitalia and no palpable gonads

Back 43

1. CAH d/t 21hydroxylase deficiency (most common**)

2. virilizing drug used by mom while prego

3. virilizing tumor in mom while prego

Front 44

ambious genitalia and HYPOTENSION

Back 44

adrenal insufficiency

Front 45

ambiguous genitalia and HTN

Back 45

Congenital adrenal hyperplasia with 11B-OH deficiency

Front 46

adrenal cortex makes:

Back 46

steroids

Front 47

adrenal medulla makes:

Back 47

catecholamines

Front 48

what 3 things does adrenal CORTEX make?

Back 48

1. mineralcorticoids (aldo)

2. glucocorticoids (cortisol)

3. androgens (DHEA)

Front 49

how is mineralcorticoid (aldo) synthesis controlled

Back 49

via RAAS (NOT* with ACTH or pituitary, doesn't matter!)

Front 50

how is glucocorticoid and andreogen synthesis controlled?

Back 50

ACTH via hypothalamus-pituitary axis

Front 51

Primary adrenal insufficiency

Back 51

-enzyme deficiency destroys adrenal CORTEX==>Hypotension, HypoNat, more pigment (no cortisol) & hyperK, hypoNat (no aldo)

Ex: Addison's Dz, CAH, adrenoleukodystrophy

Front 52

Secondary adrenal insufficiency

Back 52

-something interferes with RELEASE of CRH from hypothalamus or ACTH from pituitary

Ex: pituitary tumor, Langerhans cell hystiocytosis, STEROID use suppresses HPA

Front 53

normal K

Back 53

secondary adrenal insufficiency (because ALDO isn't affected because it responds to RAAS*)

Front 54

Congenital Adrenal Hyperplasia

Back 54

-aut. recessive

-primary adrenal insufficiency in childhood

-#1 cause ambiguous genitalia when no gonads palpable*

-basically leads to INCREASED androgen production

Front 55

most common enzyme deficiency leading to CAH

Back 55

21-hydroxylase deficiency

Front 56

3 types of 21-hydroxylase deficiency

Back 56

1. Classic salt-wasting (low CORTISOL, low ALDO)

2. Simple virilizing (low CORTISOL)

3. Nonclassic (mild low CORTISOL)

Front 57

1-2week old boy/girl presents with FTT, vomiting, electroyte disturbance

Back 57

classic salt-wasting CAH

Front 58

no electrolyte abnormalities and ambiguous genitalia

Back 58

simple virilizing CAH

Front 59

1-4yo boy is tall, precocious puberty

Back 59

simple virilizng CAh

Front 60

HTN and hypOK with ambig genit

Back 60

11b hyroxylase def

Front 61

high 17-OHP levels

Back 61

21 hydroxy def.

Front 62

high 11-deoxycortisol (specific compound S*)

Back 62

-11b hydroxylase df

Front 63

Tx of CAH

Back 63

-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

Front 64

Acquired Adrenal Insufficiency

Back 64

1. Steroids

2. Addisons (autoimmune destruction of cortex by lymphocytes)

3. Waterhouse-Friderichson

Front 65

Addisons

Back 65

can detect antibodies to adrenal cortex & also have Hashimotos and DM1 or HypoPTH and candidiasis

Front 66

Waterhouse-Frid

Back 66

acute adrenal hemorhage in baby with septicemia (usually d/t meningococcemia)

Front 67

cortisol level shoudl DOUBLE when you give ACTH in normal person

Back 67

if not, suspect primary adrenal insufficiency

Front 68

acute Tx of adrenal crisis (E!!!)

Back 68

-IVG

-STEROIDS

Front 69

Excess glucocorticoid (cortisol)

Back 69

-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)

Front 70

Dx of hypercortisolism

Back 70

-elevated free cortisol in urine

-no cortisol suppression overnight with Dexamthesone

Front 71

cortisol excess or just obese?

Back 71

if obese then would grow fast too and have fast bone growth

Front 72

95% of patients with DM1 have what haplotype?

Back 72

HLA DR3 or DR4

Front 73

findings in DM1

Back 73

-antibodies to islet cells

Front 74

Dx DM1

Back 74

random gluc >200 with polyuria and polydipsi, weightloss, nocturia

Front 75

what happens if EVENING dose of insulin is too high?

Back 75

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)

Front 76

definition of DKA

Back 76

gluc >300, ketonuria, bicarb<15 or pH<7.3

Front 77

HYPERK in DKA

Back 77

K moves out of cells so H can go inside to correct for the acidosis

Front 78

Causes of congenital HyPOthyroidism

Back 78

-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

Front 79

Tx for congenital hypothyroidism

Back 79

L-thyroxine right away (even before sx) cause otherwise wil have bad neuro stuff

Front 80

lymphocytes invade thyroid gland==>follicular fibrosis, atrophy, hyperplasia

Back 80

Hashimotos: #1 cause of ACQUIRED hypothyroidism

Front 81

marker for autoimmune thryoid dz

Back 81

antiperoxidase antibodies!!!

Front 82

Hyperthyroidism

Back 82

Graves dz (diffuse toxic goiter!!!*)

Front 83

TSH-look alike antibody overstimulates thyroid to make T4

Back 83

Graves (autoimmune)

Front 84

thyroid stimulating immunoglobulin

Back 84

Graves

Front 85

Tx hyperthyroidism

Back 85

PTU(also inhibits peripheral T3,4), methimazole

Front 86

vitamin D and PTH

Back 86

release Ca & Phos from bone

Front 87

PTH

Back 87

Ca: release from bone and reabsorption from kidney

Phos: rlease form bone and excretes from kidneys

Front 88

how does PTH act to increase Ca reabsorp in kidney?

Back 88

stimulates 1,25

Front 89

all low calcium levels should have IONIZED Ca level measured to make sure it's true

Back 89

otherwise could be d/t low albumin (like in nephrotic syndrome)

Front 90

-Tetany (laryngospasm, painful spasm of wrists etc)

-paresthesias

-seizures

Back 90

low Calcium!

Front 91

Hypomag can lead to

Back 91

HypoCa

Front 92

hypoCa in baby older than 4days

Back 92

-HypoPTH

-DiGeorge

-HyperPhos

Front 93

if mom has high serum calcium, can cross placenta and suppress fetal PTH

Back 93

transient hypocal hypoPTH in newborn

Front 94

how does hyperPhos lead to hypoCa

Back 94

binds it

Front 95

what study to get with hypoCa?

Back 95

EKG to check for long QT

Front 96

hypoCa Tx

Back 96

-usually oral, IV calcium gluconate if more sx

-give 1,25 (calcitriol) if chronic hypoPTH

Front 97

Rickets

Back 97

low vD causes deminiralization of bone with NORMAL BONE MATRIX*

Front 98

kid has normal Ca, low Phos (leaking out from renal tubules), bow legs, NO tetany

Back 98

vitamin D resistance==> rickets (familial hypophosphatemia, X linked dominant)

Front 99

Diabetes Insipidus

Back 99

can't concentrate* urine d/t LOW ADH* or Kidney NOT RESPONDING* to ADH

Front 100

Central DI

Back 100

not enough ADH

Front 101

Nephrogenic DI

Back 101

kidney is resistant to ADH

Front 102

What can cause central DI?

Back 102

-autoimmune antibodies attack ADH producing cells

-HIE

-hypothalamic brain tumor

-Langerhans cell histiocytosis

-Granulomatous Dz (TB/sarcoidosis)

-aneurysms

-genetic

Front 103

cause of Nephrogenic DI

Back 103

-x linked recessive

Front 104

dilute urine with HyperNat and high serum osmolality

Back 104

DI

Front 105

early morning urine with sp grav >1.018

Back 105

RULES OUT DI***!

Front 106

deprive kid of water, and still can't concentrate urine and serum osm is rising

Back 106

DI

Front 107

kid still can't conct urine when given ADH

Back 107

nephrogenic DI

Front 108

imaging in DI

Back 108

-bone scan to r/o langerhans

-MRI to look for absence of hyperintense signal in post pituit

Front 109

Tx for CENTRAL* DI

Back 109

DDAVP

Front 110

hypoglycemia

Back 110

<40

Front 111

baby with hypoglycemia

Back 111

lethargy, jerks, cyanotic, apnea, seizures

Front 112

older kid with hypoglycemia

Back 112

tachy, sweating, tremor, HA, seizure

Front 113

Neonatal hyperglycemia

Back 113

1. transient (mom was diabetic)

2. perisitent -3+days

Front 114

perisistent hypoglcemia in neonate

Back 114

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.

Front 115

neonate with hypoglycemia, microcephaly, cleft palate

Back 115

congenital hypopituitary!!8

Front 116

1-6yo with hypoglycemia

Back 116

#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