Hormonal Diseases 1 Medicine

Front 1

Statin drugs
Enzyme inhibited

Back 1

Stops CH SYNTH.
-> BA sytnh
No fecal CH.
Hypercholesterolemia treatment.
Inhibit HMG Co A reductase to stop CH synthesis

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Assay of bile salts(+++)

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Clinical indicator of hepatic disease

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Cholelithiasis

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>15% serum CH.
Normal: 70% BA to 8% CH
Due to:
- biliary duct obstruction
- intestinal malabsorption
- decreased bile sytn

Tx:
- Cholecystectomy
- sonic disruption
- Admin of bile salts

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Type I hyperlipoproteinemia

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Aka familial hyperchylomicronemia
- LPL or ApoCII defish
+++ CM in blood

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Type III Hyperlipoproteinemia

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apoE/ receptor defish
+++ CM remnants in blood

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apoB100 defish

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Liver fails to pick up IDLs.
+++ IDLs in blood

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Type II Hyperlipoproteinemia

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LDL receptor defish
+++ LDL -> CH in plasma

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atherosclerosis

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oxidized LDL taken up by scavenger macrophages. forms plaques

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Lipoprotein (a)

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similar to LDL. LPL contains apo(a) which is similar to plasminogen. But instead of breaking down clots, it slows clot breakdown. Triggers heart attack

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Tangier disease

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CH not transported out of cells. CH accumulates in cells
Low HDL levels therefore.

Orange tonsils.
Enlarged liver

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Cholestyramine

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Bile acid residue.
-> +++ fecal CH

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PUFA

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Polyunsat FAs
++ CH excr
++ LDL receptors
++ HDL synth
-- plaque

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Steatorrhea

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malabs/digestion of fat.
Fat in feces (floaters)

<- abs or panc enzyme defish

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Fatty liver

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also liver cirrhosis
alcohol -> ---NAD+
Fat accumulation in liver.

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Carnitine acyl translocase I (CAT I) defish

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Stops transport of FAs INTO the mitoch matrix.

ONLY long chain FAs (14-20).

Co A from FA-CoA transferred to carnitine to form acylcarnitine, which is transferred in by a translocase.

FAs can't enter mitoch
-> muscle weakness

malony coA inhibits Beta Ox

Front 16

Ketoacidosis

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starvation/diabetes
--pH
++ ketone bodies

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Respiratory distress syndrome

Back 17

--- Dipalmitoylphosphatidylcholine

Lungs collapse

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Refsum's disease

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Decrease in enzyme that breaks down branch chain FA's. Buildup of phytanic acid.

-> brain damage

Front 19

Cholesterol Esterase defish

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Chol Esterase hydrolyzes CHE.

-> ++CHE
-> enlarged liver

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Wolman's disease

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defish in FA lipases
accumulation of CHE's AND and TGs. Unlike CHEase defish (no TGs)

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Essential FA defish

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Linoleic and linolenic acid defish
used to synth PUFAs

-> eczema, skin disorders

Front 22

Sphingolipidoses

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--- sphingolipid degrad enzymes

-> Tay-Sachs, Sandhoffs, Nieman Pick, Gauchers, Fabry's

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Zellweger's Syndrome

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Lack of FA peroxisomes
--- glycerol ether lipids (plasmalogens)
+++ v. long chain FAs (24-26C)

Dx: assay amniotic fluid

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Star Protein Defish

Back 24

Can't transport CH into mitoch during steroid synth

-> --- steroids
-> +++ CH

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Cyt P450/Desmolase defish

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no CH -> pregnenolone

-> NO steroid hormones synth (--cortisol, aldo, andros)
-> ++ CH
-> -- pregnenolone

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Aldosterone/CRH/ACTH defish

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-> low BP, shock
-> --Na, ++ K+
(Hyponatremia, Hyperkalemia

Front 27

Addison's disease

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Adrenal insufficiency/ hypocortisolism

Primary Addison's:
-- cortisol
++ ACTH
(due to adrenal cortex)

Secondary Addison's
--cortisol
-- ACTH

-- muscle
-- Na+, ++ K+
++ stress

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Cushing's disease

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Hypercortisolism

++ ACTH, or ++ Cortisol

Fat, humps

++ ACTH, ++ Cortisol
-- bone proliferation -> shorter

Overproduction of ACTH (adrenals produce testosterone)
-> hirsutism, hyperglycemia,

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Adrenocortical tumors

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+++ androgens
+++ hirsuitism/virilisation

(Can be due to Cushings)

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3 Beta HSD defish

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3Beta HSD Defish
No aldo, cortisol, estriol, or testosterone.
A form of Congenital Adrenal Hyperplasia (CAH) (++ACTH --all steroids)

Therefore no Progesterone -> decr in all sterioids

Excess Na+ excr

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21 Hydroxylase defish

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A form of Congenital Adrenal Hyperplasia (CAH)

No Progesterone ->
-- aldo, cortisol
++ androstenedione
--- Na+, ++ K+
+++ precocious puberty, hirsuitism, virilization

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11 Beta Hydroxylase defish

Back 32

no aldo, cortisol
Like 21 hydroxylase defish
(++ androstenedione)
but also ++ somatic growth

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17 alpha hydroxylase defish

Back 33

A form of Congenital Adrenal Hyperplasia (CAH)

No cortisol or sex hormones
++ aldosterone (Hypernatremia, h2o)
++ corticosterone (weak cortisol)
Prepubertal females
-- sex steroids, so ++ FSH, LH
NO adrenal insufficiency (++ corticosteroids)

Front 34

Conn's Syndrome

Back 34

Benign adrenal tumor
++ aldosterone
++ hypokalemia
++ polydypsia, polyuria
++ muscle weakness

Front 35

Benign Prostatic Hyperplasia

Back 35

BPH
Due to DHT
Urinary retention (hydronephrosis)

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Klinefelter's

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XXY
Primary hypogonadism
+++ GnRH
--- Testosteron
-- testosterone
-- sperm

Front 37

Kallman's syndrome

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-- LH, FSH
Secondary hypogonadism
no smell (anosmia)

Front 38

5 Alpha reductase defish

Back 38

No testosterone -> DHT
-> Male pseudohermaphroditism

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Testicular feminization

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Lack of androgen receptors on male
NORMAL levels of testosterone
Phenotypic females

Front 40

P450 oxygenase /aromatase defish

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Female
No testosterone/androstenedione -> 17Beta Estradiol
No estradiol

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Postmenopause estrogen

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Pre-menopause: 0.5 from ovaries, 0.5 from adrenals

Post menopause: all from adrenals

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Female: Precocious puberty

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in female kids
++ estradiol/androgen
Early development

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Hirsutism

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Female adults
++ androgen
++ testosteron
-> virilization (hair, etc)
E.g., tumors

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1 alpha hydroxylase defish

Back 44

Hypoparathydoidism
(D defish, which leads to
-- Ca2+ abs)
no 25 Hydroxycholecalciferol -> 1,25 hydroxy cholecalciferol

--- Vita D
-> rickets children
-> osteomalacia adults

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Cyt P450 disease (XLR)

Back 45

P67 = X-linked Recessive. Rest are AR
Causes defect in phagosomes so that they can’t create H202 to kill bacteria.

Front 46

ALS: Motor Neuron Disease (Lou Gehrig’s)

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Motor neurons is brain, spine fail, leading to paralysis.
10% of ALS due to failure in SOD1, the cytosolic enzyme used to convert superoxide to H202. Activity is fine, but stability fails, leading to aggregation/Lewy bodies.

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Chronic Granulomatous Disease CGD

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Not RBC disease
Failure in NADPH oxidase -> defective killing by phagocytes. Phagos aggregate together. NADPH oxidase in membrane) But since not in RBC (no mitochs) no jaundice or hemolytic anemia like G6PD deficiency
NADPH oxidase produces NADPH, but not via PPP, so not in RBC

Front 48

Glucose 6 Phosphate Dehydrogenase Defish

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RBC disease
G6PD produces NADPH via PPP/HMP
Affects RBCs causing jaundice, hemolytic anemia
Mild: no effect, even in RBC unless taking oxidative drug (antimalatial)
Moderate: chronic hemolytic anemia without drug
Severe: Heme anemia + CGD-like symptoms
--NADPH (HMP) -> no e- donor, but NADPH ox normal
-- phagocytosis fails: CGD-like symptoms, WITH jaundice, hemolytic anemia

Front 49

Tylenol overdose

Back 49

80-100g/yr
CytP450 = minor pathway for metabolism of Tylenol (turns it toxic). Not used if small amt. Big problem if large dose

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Benzopyrene

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NB: Uses AhR (Xenobiotic Response element) to induce gene production of Cyt P450
Found in cigarette smoke, barbecue meat. Liver turns benzopyrene into a potent carcinogen

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Dioxin

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Uses AhR ligand (XRE) to induce gene production of Cyt P405

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Rifampicin or St J’s Wort (Hyperforin)

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Uses Steroid Xenobiotic Sensing receptor (SXR) to induce gene production of CytP450
Bad when there is drug interaction with warfarin, Cyclosporin, birth control pills

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17 Alpha Hydroxylase defish in *Adrenal Cortex*

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No Prog -> 17OH Progesterone
-- Cortisol
(aldo fine)
++ ACTH causes adrenal growth (Congenital adrenal hyperplasia)

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17 Alpha Hydroxylase defish in Testes

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-- Testosterone
-> Male pseudohermaphroditism (vs 21 hydroxylase defish leads to female hermaph)

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17 Alpha Hydroxylase defish – adrenal cortex: females only

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-- cortisol
-- test
-- estrogen (Pregnenolone not converted to androstenedione -> estradiol)
Aldo fine!
No testosterone, but females can differentiate fine without it.
But: ovary cannot make estrogem, -> prepubertal girl

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21 hydroxylase defish

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-- cortisol
-- Aldo
Androgens fine!
-- cortisol: -> Adrenal cortex generates testosterone -> precocious puberty in males
-- cortisol-> ++ testosterone in females: XX male: Female pseudohermaphroditism

Front 57

Galactorrhea

Back 57

++ OT caused by ++ TRH
So galactorrhea can be a sign of secondary hypothyroidism

Front 58

Turner syndrome:

Back 58

45,X
Hypergonadotrpic Hypogonadism (primary). ++ FSH/LH (Has normal, low FSH, LH at 2-4 yrs)
Short stature, heart issues. CAN have breast dev (10%).

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Delayed puberty: breasts, menses, testes

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Breasts: >13
Menses > 15
Testes > 14

Front 60

Precocious Puberty: age, bones, cause

Back 60

Shorter since early fusing of epiphyses
FeMales pre 8
Males pre 9
Can be due to –cortisol -> ++ testosterone in males
++ testosterone in females causes hermaphroditism
Can also be due to tumor

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Klinefelter’s Syndrome

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XXY
Hypergonadotropic hypogonadism (primary)

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Kallman’s

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Can’t smell. Secondary (hypogonadotropic hypogonadism

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Aromatase defish

Back 63

Androstenedione is not converted into estradiol in the granulosa cell
++ androstenedione
-- estrogen, --GH
Therefore slow growth, but growth does continue into adulthood (bone plates don’t fuse)

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Polycystic Ovary Syndrome (PCOS)

Back 64

Oligo-ovulation = irregular ovulation
Anovulation = no ovulation
Hyperandrogenism = ++androgens, --aromatase -> --estradiol (++theca – gran)
Polycystic ovaries = multiple selection, no ovulation

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Menopause

Back 65

No active granulose cells, no inhibin , estradiol
++ LH, FSH
Hot flashes

Front 66

Growth Hormone Defish

Back 66

Congenital: results in normal growth until birth since GH only kicks in after birth (unlike IUGR)
Growth retardation shows up 6-12 months after birth.
Deceleration in both growth and weight, but growth decreases more than weight, so CHUBBY!
Prominent forehead

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Growth hormone excess

Back 67

Gigantism: ++GH while growth plates are open. –LH, FSH keep growth plates open
Acromegaly: ++GH after growth plates closed. Thickening bones, forehead, jaws

Front 68

Intrauterine Growth Retardation

Back 68

IGF1 defish. Results in growth retardation in womb already. Unlike Growth Hormone defish

Front 69

Hypothyroidism and bones

Back 69

-- cortisol -> -- proliferative zone. Resting zone fine!
Shorter growth

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Androgen insensitivity

Back 70

Body responds to estrogens, not male androgens
Estrogens fine, so normal growth. (vs aromatase defish – growth)

MIS/MIH IS produced, so no mulerian

Front 71

Cytochrome oxidase defish

Back 71

GENOMIC DNA defect disease = single abnormal protein (vs MITOCH DNA diseases = many different probs)
O2 delivered to tissue (unlike lactic acidosis) but it is not used efficiently
Weak gait, shaky

Front 72

MELAS: Mitochondrial Encephelopathy lactic acidosis

Back 72

Mitoch DNA defect (not genomic DNA) therefore many different problems. tRNAs spread out randomly in genome.
Approx >50% abnormal Mitoch DNA to see bad symptoms
Muscle weakness, facial weakness, mental (stroke), weight loss
Low threshold for exercise
Biopsy: granulated: muscle not using its substrates
Lengthened mitoch, not oval

Front 73

Kearns sayre

Back 73

Progressive opthalmoplegia (droopy eyelids, can’t move eyes)
Mt DNA defect