Endocrinology

Question 1

short stature

Answer 1

2SD below mean ht
normal variant short stature- short but growing at norm velocity
pathologic short statue-short and suboptimal growth
if grow 2in/y btw 3-puberty= no endocrinopathy or underlying pathologic D

Question 2

hypopituitarism

Answer 2

suspect when hx of hypoglycemia, prolong jaundice, cryptorchidism, microphallus

Question 3

normal variant short stature

Answer 3

familiar short stature: below 2SD, normal bone age and onset of puberty
constitutional short stature- >2SD, delayed bone age and late onset of puberty

Question 4

disproportionate short stature

Answer 4

rickets (frontal bossing, bowed legs, low serum phosphorus, high serum alkaline phosphatase) and skeletal dysplasias

Question 5

proportionate short stature

Answer 5

in utero: enviro, chromo (down, turner), genetic (prayer will,), viral (CMV)
postnatal- malnutirtion,psych, organ system disease

Question 6

evaluate short stature

Answer 6

Lab: cbc, ESR, T2, BMP, IGF-1 (indirect test for GH),, chromosome analysis for turner’s
radiographic study: bone age, pituitary gland - craniopharyngioma- distortion of sella truck and suprasellar ca

Question 7

GH deficinecy

Answer 7

uncommon.
P: prolong neonatal jaundice, hypoglycemia, cherubic facies, central obesity, microphallus, crytorchidism, midline defects, growth curve show poor velocity
causes: craniopharyngioma if kid older than 5yo not growing 2in/y
bone age

Question 8

endocinopathies that cause growth stunt

Answer 8

all bone age

Question 9

female puberty

Answer 9

onset btw 7-13yo

Question 10

male puberty

Answer 10

9-14yo. first sign is testibular enlargement

Question 11

precocious puberty

Answer 11

girls: breast dev or pubic hair bf 7yo or monarch bf 9yo. premature the larch at 2yo and adrenarch at 5 w/o the other needs no workup.
boy: testicular changes,penile enlarge, pubic/axillary hair bf 9yo

Question 12

isosexual prevovious puberty = central precocious puberty (CCP

Answer 12

norm dev at hearier age. females tend to be idiopathic. males organic so need MRI head for all cases. Can be caused by hydrocephalus, CNS infections, hypothalamic hamartomas, atrocity, gliomas, head trauma, benign cerebral palsy, hypothyroidism
dx: FSH, LH, sex steroid elevated. GNRH sitmulation test(assess activation of HPGA axis. if cause incr LH, likely LH.

Question 13

peripheral prevocious puberty (PPP)= heterosexual gonadotropin indep puberty

Answer 13

indeed of HPGA axis due to peripheral sex steroid (Not FSH or LH) production. flat response on GnRH stimulation bc HPGA axis not activated
boy- feminization, pubic hair, no testicular enlargement bc no incr in FSH
girls- variation or breast dev
etio: exogenous sex steroid, gonadal tumor, adrenal tumor, hyperplasia of adrenal gland
boys with testicular enlargment:
1) McCune -Albright syndrome- bony changes and coast of maine cafe au last spots. endocrinopathies
2) testotoxicosis- enlarge b/l
3) betal HCG secreting tumor- only in boys
same evils CPP

Question 14

delayed puberty

Answer 14

boy: no testicular enlargement by 14
Girl- no breast tissue by 13 or monarch by 14
2 types
1) hypogonadotropic hypogonadism:
2) hypergonadotropic hypogonandism:

Question 15

hypogonadotropic hypoganadism

Answer 15

inactivity of hypothalamus and pituitary. flat GnRH stimulation test
etio: constitutional delay of puberty: usually fx, associated with constitutional delay of growth. immature hypothalamus. chronic disease like anorexia, IBD, HF, RF. hypopituitarism, primary hypothyroidism, prolactinoma, genetic (klaxon, prader will)

Question 16

hypergonadotorpic hypogonadism

Answer 16

end organ dysfunction. high FSH, LH, low testosterone estradiol
boys: klinefelter
girls- turner
AI- hashimotot thyroiditis, addison’s

Question 17

ambiguous genitalia male

Answer 17

1) inborn error in testosterone synthesis:
2) gonadal intersex: internal structures of combo of M and F: mixed gonadal dysgenesis (mosaicism 45XO/46XY, vas def and fallopian tubes). true hermaphroditism
3) partial androgen insensitivity- defective binding- x linked. testicular feminization syndrome has complete insensitivity and present as normal phenotypic female with 46XY.

Question 18

ambiguous genitalia in virilized female

Answer 18

1) CAH caused by 21 hydroxyls deficiency is most common pseudohermaphroditism. suggested by incr BP
2) virilizing drug taken by mom in preg
3) virilizing tmor in mom while preg
decr BP suggest adrenal insuff.

Question 19

cortisol def sx

Answer 19

anorezia, weakness, hyponatremia, hypotension, incr pigmentation over healing scars

Question 20

aldosterone def

Answer 20

FTT, salt craving, hyponatremia, hyperkalemia

Question 21

primary adrenal insufficinecy

Answer 21

addison’s, CAH, adrenoleukodystrophy.

Question 22

secondary adrenal insuf

Answer 22

ACTH or CRH lvl problem. since minerocorticoids not reg by them, no aldosterone def and normal seem K.
etio- most common is iatrogenic- glucocorticoids >2wk suppress hypothalamus

Question 23

congenital adrenal hyperplasia (CAH)

Answer 23

AR. most common cause of ambiguous genitalia with unpalpable gonads.
enzyme def lead to less cortisol or aldosterone and build up of precursors that is shunted into androgen production.
3 types of 21-H hydroxyls def
1) classic salt wasting: cortisol and aldo def= FFT, vomit, electrolyte abn
2) simple virilizing CAH, only cortisol def. tall, adv bone age, pubic hair, penile enlargement, girl virile. no electrolyte ab
3) nonclassic CAH: late onset with mild cortisol def no aldo def.
111 beta hydroxylase def- hypertensive, and hypokalemic
3beta hydroxyteroid deH def: salt wasting crises, cotisol def, ambiguous genitalia and early black in all three adrenal steroid pthwy.

Question 24

CAH workup

Answer 24

1) incr 17- hydroxyprotestone (17OHP) in 21 hydroxylase def
2) incr specific compound S in 11 beta hydroxylase def
3) incr DHEA and 17 hydroxypregnenolone in 3 beta hydroxysteroid deH def
4) low Na, high K

Question 25

CAH management

Answer 25

cortisone admin to suppress ACTH so less excess androgen production = don't interfere with proper growth mineralcorticoid replacement- fluorocortisol f/u

Question 26

glucocorticoid excess

Answer 26

poor growth with delay bone age, central obesity, moon facies, nuchal fat pad, easy bruising, purple striae, HTN, glu intolerance hypercortisolism etio: iatrogenic -most common, cushings syndrome (adrenal tumor), cushing disease (excessive ACTH production -pituitary tumor,) labs: 24hr urine cortisol elevated, dex supression test- no suppression,

Question 27

DMI

Answer 27

95% have HLA hypolotype DR3 or DR4 viral infection, AI: islet cell ab in 85%. clinical: girsl have protracted monilial vulvovagininitis adolescent present in puberty when GH and sex steroid antagonize insulin action dx- hyperglycemia >200 with polyuria/dipsia, wt loss, or nocturne

Question 28

somogyi phenomenon

Answer 28

evening dose too high so body make epi and glucagon to counter in morning resulting in hyperglycemia induced by insulin. tx by lowering insulin

Question 29

DKA

Answer 29

mild in DM2. can be severe in DM1. hyperglycemia >300 with coterie and serum bicarb

Question 30

acanthosis nigricans

Answer 30

hyper pig skin at neck and ancillary folds. in DM2

Question 31

congenital hypothyroidism etio

Answer 31

most common metabolic D etio 1) thyroid dysgenesis: 90%. 2/3 aplasia or hypoplasia. 1/3 exctopic- base of tongue to mid chest 2) thyroid dyshormogenesis- inborn errorAR> often goiter and sensorineural hearing loss 3) PTU use in mom cause transit hypothyroidism in newborn 4) materal Ai thyroid disease- transit hypothyroidism

Question 32

congenital hypothyroidism P

Answer 32

``` asx initially hx: of jaundice and poor feeding lthargy and constipation PE: large anterior and posterior fontanelle, protruding tongue, umbilical hernia, myxedema, mottled skin, hypothermia, delay neurodev (TH is essenial for 1st 2y of brain dev), poor growth Labs: normal NH3, normal glu ```

Question 33

hashimoto's disease

Answer 33

chronic lymphocytic thyroiditis (CLT) that cause follicular fibrosis and atrophy and follicular hyperplasia. most common acquired hypothyroidism w/wo goiter more in girls P: variable. asx, goiter, short, transient hyperthyroidism-hashitoxicosis,

Question 34

incr TSH

Answer 34

first sign of thyroid failure

Question 35

hyperthyroidism

Answer 35

lid lag and exophthalmos, enlarge thyroid gland that is smooth, tachycardia, palpitations, warm and flushed skin. if see vitiligo or alopecia there may be other AI polyendocrinopathis like addison and DM. nervousness, fine tremors, fatigue, delay monarch and gynescomastia in boys

Question 36

grave's

Answer 36

incr T3, T4 with suppressed TSH bc TSI | tx: PTU and methimazole

Question 37

PTH

Answer 37

releases ca and phosphorus from bone. excrete phosphorus through kidney. reabsorption of ca and bicarb

Question 38

25 OH vit D

Answer 38

converted into 1,25 OH D in kidney which stimulate Ca absorption in GI

Question 39

hypocalcemia: etio, labs

Answer 39

serum Ca 4yo: hypoPTH, digeorge, hyperphosphatemia (from excessive phosphate intake or uremia) 3) childhood hypocalcemia: hypoPTH, pseudohypoPTH (PTH resistance, AD D, short, dev delay, incr PTH), hypomagnesemia (malabsorptive disease), it D def (low phosphorus dev) labs: serum Ca, phosphorus, mg, ECG (prolong QT), PTH, Vit D, radiograph of wrist of knee to eval for rickets

Question 40

tetany

Answer 40

1) carpopedal spasm- hypocalcemia cause peripheral MN excitement, painful spasm of wrist and ankles 2) laryngospasm 3) paresthesias

Question 41

pseudohypocalcemia

Answer 41

de to low albumin lvl. in nephrotic syndrome

Question 42

hypocalcemia tx

Answer 42

mild asx don't need tx. | newborn with lvl

Question 43

Rickets etio

Answer 43

cause by VitD def. def mineralization of growing bone w/ normal bone matrix predisposed by: exclusive breast fed, fad diet, anticonvulsants, renal/hepatic failure etio: vit D def, GI D- fat malabsorption, nutritional, defective vit D metabolism, 1) vit D dep rickets -rare= enzume def 1 alpha hydroxylase vita D results in no 1,25 OH D. present with incr PTH, low it D, low Ca, low P, incr alkaline phosphatase 2) vit D résistent rickets- familial hpophosphatemia: most common type of rickets. x-linked dom. renal tubular phosphorus leak. low serum P lvl. normal ca. bowl legs no tetany. tx with P sup and 1,25 D analogs 3) ocogenous rickets- in pt with bone pain or myopathy

Question 44

rickets P

Answer 44

occu

Question 45

diabetes insipidus

Answer 45

inability to maximally conc urine bc low ADH (central DI) or unresponsive to ADH (nephrogenic DI P: nocturia, enuresis, poort wt gain, polydipsisa/uria dx: if thirst intact +access to water then electrolytes normal. otherwise hyponatremic dehydration with inappropriately dilute urine in face of incr serum Na and incr serum osmolarity. early morning urine SG >1.018 ro DI. water deprivation test - rise serum osmolarity despite urine output, low osmo, MRI head, bone scan- langerhans

Question 46

central DI

Answer 46

AI (ab target ADH producing cells), trauma and hypoxic ischemic brain injury, hypothalamic tumor, langerhans cell histiocytosis (25%), granulomatous disease (tb, sarcoidosis), vascular (aneurysm), genetic (AD) tx: DDAVP (synthetic ADH)

Question 47

nephrogenic DI

Answer 47

x linked R. non-responsive to ADH

Question 48

hypoglycemia

Answer 48

definition:

Question 49

persistent neonatal hypoglycemia

Answer 49

last >3d. 1) hyperinsulinism due to islet cell hyperplasia (nesidioblastosis), beck with-wiedemann syndrome. LGA and present with visceromegaly, hemihypertorphy, macroglossia, umbilical hernia, distinctive ear crease 2) hereditary defect in carbohydrate meta- glycogen storage disase type I, aa meta (maple syrup) 3) hormone def: GH def or cortisol def. suspect congeital hypopituitarism in neonate who present with hypoglycemia, microphallus, midline defect ~ cleft palate

Question 50

hypoglycemia in infancy and kids

Answer 50

uncommon. DD 1) ketotic hypoglycemia- 1-6yo. in late morning with coterie and low insulin bc can't adapt to fasting state. thin and hypoglycemic after infection 2) ingestions-alcohol, oral hypoglycemic agents 3) inborn erros of metabosim 4) hyperinsulinism