Endo Flashcards
Endocrine disorders manifest by
Excess hormone
Deficient hormone
Abnormal Response to end organ
Gland enlargement
What are stimulated by the FF GHRH CRH GNRH TRH
In the hypothala
GH
ACTH
FSH,LH
TSH
Dopamine inhibits
Prolactin
Hypothalamic deficiency leads to decrease in most pituitary hormones expect
Prolactin
Diagnosis of diabetes
- Fasting glucose >126mg/dL
- Random glucose >200
- Abnormal ogtt >200 at 2 hours
- Hba1c >6.5
When ___% islet cells are destroyed the remaining ones are unable to sustain euglycemia
80-90%
Renal threshold for glucose absorption
160-190mg/dl
Polydypsia occurs because
Glucose causes osmotic diuresis
DKA considered if
- Arterial pH <7.3
- Serum bicarbonate <15 meq/L
- Ketones are elevated in serum or urine
Very short acting insulin
Lispo
Aspart
glulisine
Short acting insulin
Regular
Intermediate acting
Neutral protamine hagedorn
Long acting insulin
Glargine
Detemir
Hba1c targets
<6 years old
7.5-8.5
6-13 years old
<8
13-18 years old
<7.5
Severe hypoglycemia
Massive hepatomegaly
Growth retardation
Lactic acidosis
Glucose 6 phosphatase deficiency
During hypoglycemic episode
Blood sample obtained for
Glucose Insulin GH Cortisol FFAs Beta hydroxybutyrate acetoacetate Lactate
Hypoglycemia without ketonuria means
Hyperinsulinism
Or defect in fatty acid oxidation
Normal values upper to lower segment ratio
Infant 1.7:1
1 year old 1.4:1
10 year old 1:1
Retinitis pigmentosa Hypogonadism Developmental delay Autosomal dominant Obesity Polydactyly Growth delay
Bardet Biedl syndrome
Retinitis pigmentosa Hypogonadism Developmental delay Autosomal dominant Growth delay Spastic paraplegia
Laurence Moon syndrome
Short stature Developmental delay Short 4th and 5th digits Resistance to parathyroid hormone High Phos Low Ca
Pseudohypoparathyroidism
Albright hereditary osteodystrophy phenotype
Autosomal recessive Prominent forehead Hypoplastic nasal bridge Delayed dentition Sparse hair Blue sclerae Delayed bone maturation Osteoporosis Progressive adiposity Hypercholesterolemia Low blood glucose Elevated GH Low IGF-1
Laron syndrome
FSH
In females stimulation of estrogen production and formation and support of corpus luteum
In males stimulation of devt of seminiferous tubules
LH
In males stimulation of testosterone from leydig cells
Delayed puberty if
13 yrs in females
14 in males
No sign of puberty
activity ofGnRHhormone failure
Anosmia or hyposmia
Delayed puberty
Hypogonadotropic hypogonadism
Kallman syndrome
Congenital absence of uterus
Mayer-Rokitansky-Kuster-Hauser syndrome
Precocious puberty
8 years in girls
9 years in boys
autosomal dominantgenetic disorder
characterized by the development of benignhamartomatouspolypsin thegastrointestinal tractand hyperpigmentedmaculeson thelipsandoral mucosa(melanosis)
Precocious puberty
Peutz–Jeghers syndrome
suspected when two or more of the following features are present:
Fibrous dysplasia
Café au lait macules following lines of Blaschko
Hyperfunctioningendocrine disease
(Precious puberty, hyperthyroidism, testicular abnormalities, growth hormone excess, Cushing’s syndrome)
McCune–Albright syndrome
Treatment for central precocious puberty
GnRH analog
Leuprolide
Histrelin
Tx for boys with GnRH independent precocious puberty
Inhibit testosterone synthesis (Ketoconazole)
Antiandrogen (Spironolactone)
Aromatase inhibitor (testolactone, letrozole)
Tx for McCune Albright precocious puberty
Testolactone
Tamoxifen
Thyroid metabolism of fetus occurs
Third trimester
___ exerts metabolic effect and negative feedback on TSH release
Ft3
Ft4 is test of choice because
It eliminates effects of variation in protein binding
Most common cause of acquired hypothyroidism in usa
Hashimoto thyroiditis
Lymphocytic autoimmune thyroiditis
Most common cause of acquired hypothyroidism in developing countries
Iodine deficiency
Endemic cretinism
Diagnosis for hashimoto thyroiditis
Serum antithyroid peroxidase
Side effect of methimazole
Granulocytopenia
___ can precipitate hypoCa by lowering ionized calcium without changing total serum Ca
Alkalosis
Most common cause of female ambiguous genitals
Congenital virilizing adrenal hyperplasia
Test to diagnose CAH with 21 hydroxylase deficiency
High levels 17 hydroxyprogesterone and androstenedione
Adrenal gland outer cortex for
Synthesis of steroids
Adrenal gland inner medulla
Synthesizes catecholamines
End product in adrenal cortex
A. Outer glomerulosa
B. Middle fasciculata
C. Inner reticularis
A. Aldosterone
B. Cortisol
C. Sex steroids
Feature of congenital adrenal mineralcorticoid deficiency
HypoNa
HyperK
autoimmune destruction of the adrenal cortex
hyperpigmentation, salt craving, postural hypotension, fasting hypoglycemia, anorexia, weakness, and episodes of shock during severe illness
hyponatremia, hyperkalemia, and elevated plasma renin activity
ACTH subnormal
Addison disease
Low dose dexamethasone suppression test
Normal result?
Abnormal result?
Normal - Decrease in cortisol
Cushing’s disease - no change in cortisol
High dose dexamethasone suppression test
Cushing’s disease result
Cortisol low in high dose
bone age?
growth rate?
adult height?
Androgen excess
Advanced
Increased
Diminished
bone age?
growth rate?
adult height?
Androgen deficiency
Normal or delayed
Normal or decreased
Increased slightly or normal
bone age?
growth rate?
adult height?
Thyroxine excess
Advanced
Increased
Normal or diminished
bone age?
growth rate?
adult height?
Thyroxine deficiency
Retarded
Decreased
Diminished
bone age?
growth rate?
adult height?
Growth hormone excess
Normal or advanced
Increased
Excessive
bone age?
growth rate?
adult height?
Growth hormone deficiency
Retarded
Decreased
Diminished
bone age?
growth rate?
adult height?
Cortisol excess
Retarded
Decreased
Diminished
bone age?
growth rate?
adult height?
Cortisol deficiency
Normal
Normal
Normal
provocative test for GH
insulin
arginine
clonidine
glucagon
diabetes insipidus diabetes mellitus optic atrophy deafness vasopressin deficiency
wolfram syndrome
triphasic response after brain surgery
initial transient DI 12-48hours
then SIADH up to 10 days
then permanent DI
drugs that inhibit vasopressin
ethanol phenytoin opiate antagonists halothane alpha adrenergic
acquired nephrogenic DI can occur with
lithium demeclocycline foscarnet clozapine amphotericin methicilln rifampin
drugs that mimic vasopressin
vincristine vinblastine carbamazepine tricycle antidepressants oxcarbazepine
relationship between sodium and glucose
for every 100mg/dl increase in GLUCOSE (above 100mg/dl),
SODIUM decreases 1.6 meq/L
bone age
sexual development
HYPOPITUITARISM GH DEFICIENCY
Delayed
Delayed
bone age
sexual development
CONSTITUTIONAL DELAY
Delayed
Delayed
bone age
sexual development
FAMILIAL SHORT STATURE
normal
normal
bone age
sexual development
DEPRIVATIONAL DWARFISM
Usually delayed; growth arrest lines present
May be delayed
bone age
sexual development
TURNER SYNDROME
delayed
Female prepubertal
bone age
sexual development
HYPOTHYROIDISM
delayed
Usually delayed, may be precocious if hypothyroidism is severe
bone age
sexual development
CHRONIC DISEASE
delayed
Delayed
CALCIUM
PHOSPHATE
PARATHYROID HORMONE
25(OH)D
Primary hypoparathyroidism
↓
↑
↓
N
CALCIUM
PHOSPHATE
PARATHYROID HORMONE
25(OH)D
Pseudohypoparathyroidism
↓
↑
↑
N
CALCIUM
PHOSPHATE
PARATHYROID HORMONE
25(OH)D
Vitamin D de ciency
Nl(↓)
↓
↑
↓
CALCIUM
PHOSPHATE
PARATHYROID HORMONE
25(OH)D
Familial hypophosphatemic rickets
Nl
↓
Nl (sl↑)
Nl
CALCIUM
PHOSPHATE
PARATHYROID HORMONE
25(OH)D
Hyperparathyroidism
↑
↓
↑
Nl
CALCIUM
PHOSPHATE
PARATHYROID HORMONE
25(OH)D
Immobilization
↑
↑
↓
Nl
TOTAL T4
FREE T4
SERUM TSH
SERUM TBG
Primary hypothyroidism
↓
↓
↑
N
TOTAL T4
FREE T4
SERUM TSH
SERUM TBG
Hypothalamic (TRH) tertiary hypothyroidism
↓
↓
↓
N
TOTAL T4
FREE T4
SERUM TSH
SERUM TBG
Pituitary (TSH) secondary hypothyroidism
↓
↓
↓
N
TOTAL T4
FREE T4
SERUM TSH
SERUM TBG
TBG de ciency
↓
N
N
↓
TOTAL T4
FREE T4
SERUM TSH
SERUM TBG
TBG excess
↑
N
N
↑
tx mccune albright syndrome
letrozole
tamoxifen
thyroxine synthesis occurs at __ wks aog
4
iodine trapping occurs at __ wks aog
8-10
most common cause of congenital hypothyroidisim
thyroid dysgenesis
autosomal recessive
deafness
goiter
impaired iodide organification
pendred syndrome
muscular pseudohypertrophy in congenital hypothyroidism
kocher debre semelaigne syndrome
thyroxine tablets should not be mixed to __ because these bind t4 and inhibit absorption
soy
calcium
concentrated iron
most common cause of acquired hypothyroidisim
chronic lymphocytic thyroiditis
drugs that cause hypothyroidism
amiodarone methimazole propylthiouracil lithium interferon alpha thalidome valproate
pathogens in acute suppurative thyroiditis
anaerobe
strep viridans
staph
pneumococcus
how are cassava and cruciferous veggies like cabbage, kale goitrogens?
compete with iodine for uptake in thyroid
reduction in thyroid hormone levels caused by ingestion of a large amount of iodine
Wolff–Chaikoff effect
retraction of eyelid in graves
dalrymple sign
neonate with: advanced bone age iugr infant is restless,irritable exophthalmic eyes weight loss severe hypertension cardiac decompression hepatomegaly frontal bossing craniosynostosis triangular facies
congenital hyperthyroidism
most common type of thyroid carcinoma in kids
papillary
most common site of mets for thyroid carcinoma
lungs
marker for tumor recurrence in thyroid carcinoma
serum thyroglobulin
thyroid nodules producing hyperthyroidism
plummer disease
hypocalcemia is common ___ hrs in newborns
12 to 72 hours
autoimmune hypoparathyroidism associated with
addison disease
chronic mucocutaneous candidiasis
medullary stenosis of long bones short stature delayed fontanel closure delayed bone age abnormal PTH episodic hypocalcemia
kenny-caffey syndrome
Oliguria Azotemia Stupor Coma HyperCa
Parathyroid crisis
Ectopic source of vit D in granulomatous disease
Activated macrophages
Prolonged immobilization can lead to
Hypercalcemia
Short limbed dwarfism
Severe hyperCa
Undetectable PTH levels
Jansen type metaphyseal chondrodysplasia
Rate limiting step in adrenal steroidogenesis
Importation of cholesterol across mitochondrial outer and inner membrane
Schedule of ACTH pulses
every 30-120 min, are highest at about the time of waking, are low in late afternoon and evening, and reach their lowest point 1 or 2 hr after sleep begins
Achalasia
Alacrima
Adrenal insufficiency
Allgrove syndrome
Adrenocortical deficiency
Associated with demyelination of cns
Adrenoleukodystrophy
Chronic mucocutaneous candidiasis as first manifestation
Hypoparathyroidism
Addison disease
Autosomal recessive
Type 1 autoimmune polyendocrinopathy
OR
autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED)
Most common cause of corticotropin deficiency
Craniopharyngioma
Germinoma
Most common cause of Addison disease
Autoimmune destruction of glands
Prominent labs in adrenal insufficiency
HyperK
HypoNa
Hypoglycemia
Test when CAH suspected
17 hydroxyprogesterone
Along with cortisol in acth stimulation test
required for conversion of Δ5 steroids (pregnenolone, 17-hydroxypregnenolone, dehydroepiandrosterone [DHEA])
3β-hydroxysteroid dehydrogenase
Acth dependent Cushing syndrome
Small adrenal gland
Multiple small pigmented black nodules with large cells with lipofuscin
Primary pigmented nodular adrenocortical disease
autosomal dominant disorder also consisting of centrofacial lentigines and blue nevi; cardiac and cutaneous myxomas; pituitary, thyroid, and testicular tumors; and pigmented melanotic schwannomas
With Primary pigmented nodular adrenocortical disease
Carney complex
Centrally acting serotonin antagonist that blocks acth release
Treatment
Cyproheptadine
Hypertension HypoK Autosomal dominant Aldosterone and renin levels suppressed Mineralcorticoid excess
Liddle syndrome
Short stature Webbing of neck Pectus carinatum Cubitus valgus Right sided CHD Facies
Turner
nephropathy with ambiguous genitalia and bilateral Wilms tumor
Progress to nephrotic syndrome and end stage renal failure
Denys drash syndrome
Most common form of male DSD
Androgen insensitivity syndrome
Wilms tumor
Aniridia
GU malformation
Retardation
WAGR syndrome
Testes absent but male phenotype complete
Bilateral anorchia
Or
Vanishing testes syndrome
Dose of insulin with long standing DM and no insulin reserve
Prepubertal 0.7 u/kg/day
Midpuberty 1.0 u/kg/day
End of puberty 1.2 u/kg/day
Sodium should increase by _ for every _ of glucose
1.6mmol
100mg/dl
In DKA when should glucose be added
When serum glucose 250mg/dL
hormones that promote glycogenolysis
epinephrine
glucagon
hormones that promote gluconeogenesis
glucagon
cortisol
hormones that inhibit muscle uptake of glucose
epinephrine
growth hormone
cortisol
hormone that mobilizes amino acid for gluconeogenesis
cortisol
hormones for activating lipolysis
epinephrine
cortisol
growth hormone
glucagon
hormone that inhibits insulin release and promotes growth factor and glucagon secretion
epinephrine