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Rapid Review Step 1 > Endocrinology > Flashcards

Endocrinology Flashcards

1
Q

Carcinoid syndrome

A

Diarrhea, Flushing, Wheezing

– Carcinoid Heart Disease (Right sided endcardial fibrosis and thickening of heart valves secondary to exposure to serotonin)

– Vitamin B3 deficiency (Pellagra > Diarhea, Dermatitis, Dementia), Vit-B3 def is because Tryptophan which is also a precursor for Vit-B3 gets shunted more towards production of serotonin therefore Vit-B3 level decrease.

– Elevated 24-hr urinary excretion of 5-HIAA.

– Octreotide for symptomatic patients.

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2
Q

Von Hippel-Lindau syndrome

A

VHL gene mutation (chromosome 3).
- Hemangioblastomas
- Clear cell renal carcinoma
- Pheochromocytoma

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3
Q

5-Alpha Reductase Def

A

46,XY genotype
Impaired conversion of testosterone to DHT
Male internal genitalia (eg, testes, vas deferens)
Female external genitalia (eg, blind-ending vagina)
Phenotypically female at birth
Normal male testosterone & estrogen levels
DHT promotes development of male external genetalia and prostate from genital tubercle and urogenital sinus

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4
Q

21 Hydroxylase Deficiency

A

Increased 17-hydroxyprogesterone
Increased testosterone
hypotension, hyponatremia, and hyperkalemia
Low Cortisol and Aldosterone
Low BP

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5
Q

17-Alpha hydroxylase deficiency

A

XY: atypical genitalia, undescended testes
XX: lacks 2° sexual development
the only one that presents with genital virilization in Males
Hypokalemia, Hypernatremia, Hyperglycemia

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6
Q

Neurofibromatosis type I

A
  • Café-au-lait spots,
  • Lisch nodules (iris hamartoma),
  • cutaneous neurofibromas,
  • pheochromocytomas,
  • optic gliomas
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7
Q

Neurofibromatosis type II

A

Bilateral vestibular schwannomas

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8
Q

Acute adrenal insufficiency (adrenal crisis)

A

Body make too little Aldosterone & Cortisol Shock, altered mental status, vomiting, abdominal pain, weakness, fatigue in patient under glucocorticoid therapy.

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9
Q

Addison disease

A

Chronic 1° adrenal insufficiency
Inc ACTH, Inc MSH, dec Aldosterone & Cortisol
Skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances.

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10
Q

Sheehan syndrome

A

(severe postpartum hemorrhage
leading to pituitary infarction)
No lactation postpartum, absent menstruation, cold intolerance

postpartum hemorrhage in pituitary, no LH or FSH = no periods, hyperplasia infarcts; no prolactin = no milk

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11
Q

McCune-Albright syndrome

A

(Gs-protein activating mutation)
Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities

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12
Q

Insulinoma

A

Tumor of pancreatic islet cells (Beta-cell tumor)
Hypoglycemia
High Insulin, High C-peptide

Whipples traid:
– Hypoglycemia.
– Mental symptoms induced by fasting or exercise.
– Symptoms relieved by IV glucose.

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13
Q

Glucagonoma

A

Rare pancreatic tumor (Alpha cell tumor)
Increase HbA1c , Increase Insulin , Increase Glucagon.
Wt.loss , Depression , Necrolytic Rash

— New onset of Diabetes (Hyperglycemia) with Necrolytic migratory erythema&raquo_space; Glucagonoma.

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14
Q

Vipoma

A

Rare tumor assosiated with Multiple Endocrine Neoplasia (MEN)
Also termed as WDHA syndrome
Watery Diarrhea, Hypokalemia, Achlorhydria (absence of hcl in gastric secretions)
Hyperglycemia (fasting state sensed by body)
Hypercalcemia

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15
Q

Hyper Parathyroidism

A

Presents as:
Hypercalcemia, Recurrent Nephrolithiasis, Bone pain from osseous resorption, Polyuria, Constipation, Psychiatric disturbance.
MCC parathyroid chief cell adenoma
Incr PTH , Incr Ca+2 , decr PO4-

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16
Q

Zollinger-Elison Syndrome
(ZES)

A

Traid of:
Pancreatic/Duodenal tumor (Gastrinoma)
Increase Gastric secretion (Non responsive to antiacids)
Peptic Ulcer (Distal Duodenal Ulcer)

Other symptoms
Diarrhea
Abdominal pain
Malabsorbtion
Post-prandial pain

Gastrin increases in response to exogenus Secretin (normally secretin inhibits gastrin production in ZES effect is opposite)

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17
Q

Metabolic Syndrome

A

Wt.gain , Diabetes , Hyperlipidemia
Atypical antipsychotics have highest risk of causing metabolic syndrome (i.e clozapine, olanzipine, quetiapine)

18
Q

SIADH
( Syndrome of Inappropriate Anti-Diuretic Harmone )

A

Too much ADH (Vasopressin)
ADH is produced by supraoptic nucleus of hypothalamus and stored in posterior pituitary.

ADH increases water reabsorption in medullary collecting duct.

↓Serum Osmolality , ↓Serum specific gravity
↓ serum Na (< 135)

↑ Urine osmolality , ↑ Serum specific gravity

Tx :
– Demeclocycline (tetracycline causes insenstivity to ADH).
– Conivaptan & Tolvaptan (ADH receptor antagonists).

19
Q

Diabetes Insipidus ( DI )

A

Central DI :
Not enough ADH secrection by hypothalamus or posterior pituitary is unable to release it properly
Tx : Desmopressin.

Can be caused by head trauma, meningitis or cancer.

Nephrogenic DI :
Insensitvity to ADH in kidney (serum ADH is ↑)

Caused by Lithium, demeclocycline, hypercalcemia, NSAIDs
Tx : NSAIDs + Thiazide.

Labs:
↑ Serum Sodium (>145),↑ Serum Osmolality,
↑ Serum specific gravity.

↓ urinary osmolality, ↓serum specific gravity.

20
Q

Neuroblastoma

A
  • Adrenal medullary tumor in kids (< 4 yrs ).
  • Irregular abdominal tumor, can cross the midline.
  • Urine Metanephrines HVA (homovanillic acid)
    VMA (vaniylmandelic acid).
  • Homer-wright rosettes.
  • N-myc oncogene.
  • Bombesin +
  • Neuron-specific enzyme +
  • Opsoclonus (Dancing eyes)
  • Myoclonus (Dancing feet)
21
Q

Wilms Tumor

A
  • Renal cell tumor in kids ( < 10yrs ).
  • Smooth doesnot cross the midline.
  • Elevated Metanephrines (HMA & VMA) in urine.
22
Q

Pheochromocytoma

A

Adrenal Medulla tumor.
Short episodes of sympathetic hyperactivity:

  • Palpitations
  • Perspiration
  • Pallor
  • HTN (very high BP)
  • Headaches

Elevated Catecholamines (Norepi, Epi)
Elevated Metanephrines (HMA & VMA) in urine

Tx:
Block adrenergic receptors
1- start with alpha blockers first
2- then start beta blockers (if u give beta blockers first it can kill the patient)

23
Q

Hashimotos Thyroiditis

A

Hypothyroid
↑TSH , ↓T3 , ↓T4 , ↓Iodine uptake.

Leads to Thyroid gland Atropy
Aka Chronic Lymphocytic Thyroiditis.
Auto immune :
- Anti TPO antibodies
- Anti-Thyroglobulin antibodies

Has Hurthle cells and germinal centers on histology, Lymphocytic infiltrates are also seen.

Increased risk of Non-Hodgkins Lymphoma.
Assossiated with HLA-DR 5
Also assossiated with Thyroid Lymphoma

24
Q

Congenital Hypothyroidism

A

Aka Cretinism.

Caused by:
1- Maternal Iodine deficiency (most common cause worldwide)
2- Congenital Thyroid abnormalities (most common cause in the developed countries)

Presents as;
- Hypotonia.
- Jaundice.
- 6 Ps
(Potbelly, Protruding Umbilicus, Protruding tounge, Puffy face, Pale, Poor brain development)

25
Q

Graves disease

A

Hyperthyroidism.
↓ TSH, ↑ T3 , ↑T4 , ↑Iodine uptake.

Autoimmune (Stimulatory autoantibodies mimic TSH&raquo_space; Hyperthyroidism).
- TSH receptor antibody (TRAb) aka TSI- thyroid stimulating immunoglobulin.
- Diffuse thyroid enlargement.
- Exopthalmos/ Proptosis
(Glycosaminoglycan accumulation in and around extra occular muscles)
- Peritibial myxedema

THYROID STORM:
- Fever, HTN, ↑CK.
- Sympathetic overload (Agitation, Diarrhea, Diaphoresis)
- Death (usually by arhythmia)
- Tx : Propanolol, PTU, Prednisone

26
Q

Papillary Thyroid Carcinoma

A
  • Most common thyroid cancer
  • Excellent prognosis
  • Assosiated with childhood radiation
  • Lymphatogenous spread
  • Finger-like or Nipple like projections on histo
  • Orphan-annie eye nucleus on histology
  • Pasamoma bodies may also be seen on histology.

Note : Thyroid cancers are not Hyperthyroid conditions.

27
Q

Medullary Thyroid Carcinoma

A
  • Parafollicular cell tumor&raquo_space; ↑ Calcitonin.
  • Assosiated with MEN syndrome
  • Poor Prognosis- Hematogenous spread.
  • Amyloid deposits in thyroid.
  • Stained by Congo-Red stain.

Note : Thyroid cancers are not Hyperthyroid conditions.

28
Q

Cancers with Psamoma bodies

A

“ PSaMM “

P = Papillary thyroid CA.
Sa = Serous cystadenoma/ adenocarcinoma.
M = Meningioma.
M = Mesothelioma.

29
Q

Somatostatinoma

A

Delta-cell tumor&raquo_space; Somatostatin.

  • Global GI inhibition.
  • Steatorhea.
  • Gallstones.
  • Mild diabetes.

Tx: Oral hypoglycemics

30
Q

MEN Syndromes
(Multiple Endocrine Neoplasia)

A

Autosomal dominant syndromes

– MEN 1 : Menin gene
“ P P P “
Pituitary adenoma ,
Parathyroid adenoma ,
Pancreatic adenoma.

– MEN 2A : Marfanoid habitus
“ P M P “
Parathyroid adenoma,
Medullary thyroid carcinoma,
Pheochromocytoma.

– MEN 2B : Marfanoid habitus
“ P M N “
Pheochromocytoma,
Medullary thyroid carcinoma,
Neuromas (mucosal).

Both MEN 2A and 2B have RET gene mutation

31
Q

CONN syndrome

A

Primary Hyper Aldosteronism

  • Excess aldosterone secretion independant of RAAS.
  • Renin level ↓
  • Traid:
    1- Hypertension
    2- Hypernatremia
    3- Hypokalemia

Other symptoms include:
Fatigue, Muscle cramping, chronic Headaches, Muscle weakness and pain.

32
Q

Cushing Syndrome

A

Increase levels of Cortisol
(CRH&raquo_space; ACTH&raquo_space; Cortisol)

Caused by longterm Glucocorticoid use (MCC), Pituitary tumor (Cushings disease), Ectopic ACTH secreting tumor (SCLC), Adrenal tumor.

Symptoms:

  • Moon faces
  • Buffalo hump
  • Central Obesity & Peripheral wasting/thinning
  • Abdominal Striate (stretch marks)
  • Skin/ Bone thinning
  • In females it causes
    > Loss of Libido.
    > Menstural changes.
    > Hirustism.

Dx :
– ↑ 24hr urinary free costisol.
– Low/High dose Dexamethasone test.

33
Q

Medullary thyroid carcinoma

A

Derived from parafollicular (C) cells, which normally secrete calcitonin.

Histopathology of a thyroid mass shows amyloid deposits amongst nests of tumor cells.

34
Q

What is pituitary apoplexy?

A

Acute pituitary hemorrhage.

It usually occurs in the setting of a preexisting pituitary adenoma.

Symptoms include:
1. Severe headache
2. Bitemporal hemianopsia (due to compression of the optic chiasm)
3. Ophthalmoplegia (due to compression of the oculomotor nerve [CNIII])

35
Q

Tertiary hyperparathyroidism

A

Typically occurs in the setting of long-standing chronic kidney disease/end-stage renal disease (chronic parathyroid stimulation → parathyroid hyperplasia/autonomous hormone secretion).

It is characterized by:
- (↑) serum calcium
- (↑) serum phosphorus
- (↑) serum parathyroid hormone

36
Q

Patient with hypocalcemia, hyperphosphatemia, elevated parathyroid hormone

A

These labs are consistent with (secondary) hyperparathyroidism, which is commonly caused by chronic kidney disease.

37
Q

Neuroblastoma

A
  • Young child with large abdominal mass.
  • Urine shows elevated catecholamine metabolites.
  • Biopsy shows small, round, blue tumor cells.
  • This tumor is of neural crest cell origin.
38
Q

Pseudohypoparathyroidism

A

Is characterized by parathyroid hormone (resistance).

Expected labs:
- (↓) serum calcium
- (↑) serum phosphate
- (↑) serum parathyroid hormone

Caused by defects in PTH receptor and downstream signaling (eg, Albright hereditary osteodystrophy).

39
Q

Name 2 stains that indicate a tumor has neuroendocrine differentiation:

A
  1. Chromogranin
  2. Synaptophysin

Tumors derived from neuroendocrine cells characteristically show a salt and pepper chromatin pattern.

40
Q

Waterhouse-Friderichsen syndrome is a potential complication of?

A

Meningococcemia.

It is characterized by bilateral hemorrhagic infarction of adrenal glands, resulting in acute adrenal insufficiency (eg, worsening shock).

41
Q

Acute adrenal insufficiency (adrenal crisis)

A

Body make too little Aldosterone & Cortisol Shock, altered mental status, vomiting, abdominal pain, weakness, fatigue in patient under glucocorticoid therapy.

42
Q

Addison disease

A

Chronic 1° adrenal insufficiency
Inc ACTH, Inc MSH, dec Aldosterone & Cortisol
Skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances.

Rapid Review Step 1 (24 decks)

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