Endocrinology Flashcards Preview

Pathology > Endocrinology > Flashcards

Flashcards in Endocrinology Deck (238):
1

What hormones are produced by Somatotrophs?

GH

2

What hormones are produced by Lactotrophs?

Prolactin

3

What hormones are produced by Corticotrophs?

ACTH

POMC

MSH

Endorphins

Lipotropin

4

What hormones are produced by Thyrotrophs?

TSH

5

What hormones are produced by Gonadotrophs?

LH

FSH

6

What molecule inhibits prolactin secretion?

Dopamine

7

What molecule inhibits GH secretion?

Somatostatin

8

What is pituitary apoplexy?

Rapid enlargement of pituitary due to acute hemorrhage

***surgical emergency***

9

What is the most common cause of hyperpituitarism?

Anterior lobe adenoma

10

What are the causes of hyperpituitarism?

  • adenoma
  • Pituitary CA
  • Hyperplasia
  • Hypothalamic disorders
  • Ectopic tumors

11

How can non-functioning adenomas cause hypopituitarism?

Pressure effects on normal pituitary tissue

12

What is the size difference between a microadenoma and a macroadenoma?

  • Microadenoma: 1 cm or less
  • Macroadenoma: more than 1 cm

13

What is the major mutation seen in GH somatotroph adenomas?

GNAS

Lack of GTPase

(also in ACTH corticotroph adenomas)

G = GH adenomas, GNAS, GTPase

14

What is the most common cause of pituitary adenoma?

Sporatic

5% genetic

15

What gene mutations are associated with Pituitary adenomas?

  • MEN1
  • CDKN1B
  • PRKAR1A
  • AIP

16

What gene mutation is associated with GH adenomas in patients under 35 y/o?

AIP

17

What mutations are found in Pituitary Carcinomas?

HRAS

18

What are the characteristics of Invasive Adenomas?

  • Not encapsulated
  • Infiltrate adjacent bone, dura, sometimes brain
  • Do not metastasize

19

What disease process is pictured below?

Pituitary adenoma

monomorphism, lack of reticulin

This side: normal pituitary

20

What disease process is pictured below?

Pituitary adenoma

21

What distinguishes adenomas from non-neoplastic anterior pituitary histologically?

Cellular monomorphism (uniformity)

Lack of reticulin

22

What is the most common hyperfunctioning pituitary adenoma?

Lactotroph adenoma

(Prolactinoma)

23

What is the difference between Chromophobic and Acidophil Prolactinomas?

  • Chromophobic
    • sparsely granulated
    • juxtanuclear transciption factor PIT-1
  • Acidophil
    • dnesely granular
    • cytoplasmic transciption factor PIT-1

24

What are the symptoms of Prolactinoma?

  • amenorrhea
  • galactorrhea
  • loss of libido
  • infertility

25

What is the most likely presentation of Prolacinomas in older men and women?

Macroadenoma with mass effect

26

Prolactinomas cause what percentage of cases of amenorrhea?

25%

27

What are the treatments for Prolactinoma?

Surgery

Dopamine receptor agonists: Bromocriptine

28

Calcifications around the the intracranial cavity are indicative of what?

Prolactinoma

29

What is the second most common functioning adenoma?

Growth Hormone (Somatotroph) Adenoma

30

GH adenoma causes secretion of what hormone?

IGF-1 from liver

31

What diseases are caused by GH Adenomas?

  • Gigantism
    • if before closure of epiphyseal plate
  • Acromegaly
    • if in adults

32

What complications can arise from GH adenomas?

  • Diabetes mellitus (GH increases blood sugar levels)
  • HTN
  • Arthritis
  • CHF
  • GI cancer
    • Increased GH => increased polyp formation

33

How is GH Adenoma diagnosed?

  1. Failure to suppress GH in response to an oral load of glucose
  2. Elevated basal levels of GH and IGF-1

34

What is the treatment for GH Adenomas?

Surgury

Somatostatin analogs

GH receptor antagonists

35

What is the difference between Cushing Disease and Cushing Syndrome?

  • Disease
    • An ACTH secreting adenoma
  • Syndrome
    • Any hypercortisol state

36

Do ACTH secreting adenomas stain with PAS?  Why or why not?

Yes, due to carbs in POMC, a precursor to ACTH

37

What is Nelson Syndrome?

Large ACTH adenoma secondary to removal of adrenal glands. 

Presents with mass effect and hyperpigmentation.

38

What is the common presentation in Gonadotroph Adenomas?

Non-functional

Symptoms due to mass effect: impaired vision, headaches, diplopia, pituitary apoplexy

May result in hormone deficiencies from mass effect

39

Which hormone is most affected by mass effect in Gonadotroph Adenomas?  What are the side effects?

LH secretion is impaired, while FSH is the predominately secreted hormone

Symptoms: Decreased libido, amenorrhea

40

What transcription factors are secreted by Gonadotroph Adenomas?

SF-1

GATA-2

41

What percent of pituitary tumors are non-functioning adenomas?

25-30%

42

What hormones are most commonly secreted in Pituitary CA?

Prolactin

ACTH

43

What are the most common causes of pituitary hypofunction?

  1. Traumatic brain injury
  2. Subarachnoid hemorrhage

44

Patient presents with a sudden, excruciating headache with diplopia and hypopituitarism.  What is the likely diagnosis?

Pituitary apoplexy

(Sudden hemorrhage into the pituitary)

45

What is the most common cause of pituitary necrosis?

Sheehan Syndrome

46

What is Sheehan Syndrome?  How does this occur?

Postpartum necrosis of the pituitary

Pituitary doubles its size during pregnancy, but does not have increased vasculature.  Therefore, if there is hemorrhage during or following birth, the pituitary can become ischemic and necrotic.

47

A fluid-filled cyst is found near the pituitary.  It is lined by ciliated cuboidal epithelium, occasional goblet cells, and anterior pituitary cells.  What is the diagnosis?

Rathke cleft cyst

48

What is the common cause of empty sella syndrome?

Defect in diaphram sella allows arachnoid mater and CSF to herniate into the sella, damaging the pituitary tissue

49

What population is most effected by empty sella syndrome?

Obese women with multiple pregnancies

50

What are the symptoms of empty sella syndrome?

Visual field defects

Endocrine abnormalities: Hyperprolactinemia, sometimes hypopituitarism

51

What are the causes of secondary empty sella syndrome?

Surgical removal

Infarction of pituitary adenoma

52

What genetic defect is most commonly associated with hypopituitarism?

PIT-1

Causes decreased: GH, Prolactin, TSH

53

What inflammatory disorders/infxns can cause Ant. pituitary hormone deficiencies?

Sarcoidosis

TB meningitis

54

What results from Congenital TSH deficiency?

Hypothyroidism

Cretinism with mental retardation and retarded growth

55

What results from LH and FSH deficiency?

Hypogonadism

  • Females
    • Amenorrhea
    • Infertility
    • Atrophy of ovaries
  • Males
    • Testicular atrophy
    • Sterility
    • Impotence
    • Loss of axillary and pubic hair

56

   What is the Hand-Schuller-Christian triad?

Diabetes insipidus

Calvarial bone defects

Exophthalmos

57

What causes Diabetes Insipidus?  How is diagnosis made?

  • Cause
    • ADH deficiency
    • Unable to reabsorb water
      • serum osm > urine osm
  • Diagnosis
    • Water deprivation test

58

What causes SIADH?  What are the symptoms?

  • Cause
    • excess ADH causes excessive resorption of water
    • Most common cause: ADH secreting oat cell CA of lung
  • Symptoms
    • hyponatremia
    • cerebral edema
    • neurologic dysfuntion
    • Urine osm > serum osm

59

What disease process is pictured below?

Craniopharyngioma

60

What suprasellar tumors are most common?

  1. Gliomas
  2. Craniopharyngiomas

61

What is the origin of Craniopharyngiomas?

Reminants of Rathke pouch

62

What populations are most affected by craniopharyngiomas?  What type of tumor is found in each?  What are the symptoms?

  • Children 5-15 y/o
    • type:
      • Adamantinomatous: SS epithelium, lamellar keratin, cholesterol-rich fluid, calcifications
    • Symptoms:
      • endocrine deficiencies (growth retardation)
  • Adults 65 years or older
    • type:
      • Papillary: solid sheets and papilla; lacks keratin, calcifications, cysts
    • Symptoms:
      • Visual disturbances

63

What is the prognosis for craniopharyngiomas?

Excellent prognosis

Malignant transformation very rare

64

What are goitrogens?

Inhibitors of thyroid gland

  • Suppress production of T2 and T4
  • Increase TSH

65

What effect does Propylthiouracil have on the thyroid?

Inhibits oxidation of iodine to T3 or T4

66

What function does large doses of iodine have on the thyroid?

Inhibits proteolysis of thyroglobulin to form thyroid hormones

67

What is the difference between Thyrotoxicosis and Hyperthyroidism?

  • Thyrotoxicosis
    • Elevated T3 and T4
    • Hypermetabolic state
  • Hyperthyroidism
    • Increased TSH
    • Hyperfunctioning

68

What are the most common causes of Thyrotoxicosis?

  1. Diffuse hyperplasia (Graves)
  2. Hyperfunctional multinodular goiter
  3. Hyperfunctional adenoma

69

What happens to the neuromuscular system with excess thyroid hormone?

Sympathetic overactivity

70

What happens to the skeletal system with excess thyroid hormone?

Osteoporosis

71

What is thyroid storm?  What are the symptoms?

  • Def
    • Severe hyperthyroidism
    • usually in background of Graves
  • Cause
    • set off by infxn, surgery, stress
  • Symptoms
    • Fever
    • Pronounced tachycardia

72

What is Apathetic Hyperthyroidism?  How does it present?

  • Def
    • thyperthyroidism in elderly
    • masked by aging and co-morbidities
  • Presentation
    • Weight loss
    • Worsening cardiac disease

73

What are the lab values for primary and secondary Apathetic Hyperthyroidism?

  • Primary
    • Decreased TSH
    • Elevated Free T4 or Free T3
  • Secondary
    • Increased TSH (or normal)
    • Elevated FT4 and FT3

74

What is the difference in results of radioactive iodine scan in Graves and Thyrotoxicosis?

  • Graves
    • Uptake of radioactive iodine
  • Thyrotoxicosis
    • No uptake

75

What is the most common cause of Hypothyroidism?

Autoimmune, usually Hashimoto's

76

What is Dyshormonogenetic hypothyroidism?

Genetic inability to produce thyroid hormone

77

What is Cretinism?  How does it present?

  • Cretinism
    • hypothyroidism
    • develops in infancy / early childhood
  • Presentation
    • Impaired CNS and Skeletal development
      • "floppy baby"
    • Protruding tongue
    • Umbilical hernia

78

What is Myxedema?  How does it present?  What do labs show for primary and secondary disease?

  • Myxedema
    • Hypothyroidism developing in an older child or adult
  • Presentation
    • Slowed mental and physical activity
    • Increased LDL or creatine kinase
  • Primary
    • Increased TSH
    • Decreased FT4
  • Secondary
    • Decreased TSH
    • Decreased FT4

79

What does increased cholesterol / LDL in a person who has "just been feeling crappy" indicate?

TSH testing should be done

(Possible myxedema)

80

Patient presents with fever, chills, and neck pain.  They are found to have thyroiditis.  What type of thyroiditis do they have?  What is the effect on thyroid function?

Infectious thyroiditis

No effect on thyroid function

81

What is the most common cause of hypothyroidism in iodine sufficienct areas?

Hashimoto's

82

What Abs are found in Hashimoto Thyroiditis?

Thyroid peroxidase (thyroblobulin)

 

83

What is the histologic appearance of Hashimoto thyroiditis?

  • mononuclear infiltrate with germinal centers
  • Hurthle cells
    • atrophic, enlarged eosinophilic cells of follicles
  • Fibrosis

84

What are the labs present in Hashimoto's thyroiditis?

  • Increased TSH
  • Decreased FT4
  • TPO abs

85

What is the presentation of Hashimoto's?

Painless enlargement

Normally in middle-aged women

86

Hashimoto's Thyroiditis has an increased predisposition for what malignancies?

  • B-cell lymphomas, esp. marginal zone type
    • already has germinal centers present
  • Papillary carcinoma

87

What is the cause of Subacute DeQuervain Granulomatous Thyroiditis?

Viral infection (esp UTI)

This activates cytotoxic T-cells, damaging follicles

This causes a granulomatous infiltrate

88

A patient presents with a painful enlargement in the neck.  The pain radiates and causes pain when swallowing.  Labs show low TSH and increased FT3 and FT4.  The hyperthyroidism lasts a couple weeks, followed by full recovery.  What is the diagnosis?

Subacute Granulomatous DeQuervain Thyroiditis

89

What is the morphology of Subacute DeQuervain Granulomatous Thyroiditis?

Aggregates of inflammatory cells (granulomatous inflammation)

Multinucleated giant cells surrounding pools of colloid

90

What is the prognosis for Subacute DeQuervain Granulomatous Thyroiditis?

Complete recovery

91

A patient presents with a stony hard, painless thyroid with an asymmetric nodularity.  It was found to be fibrotic with extention into the surrounding neck structures.  What is the diagnosis?

Riedel's Thyroiditis

92

What is the etiology of Riedel's Thyroiditis?

Autoimmune

Plasma cell IgG causes fibrosis

93

What is the most common causeof endogenous hyperthyroidism?

Graves Disease

94

What antibodies are found in Graves disease?

  1. TSH receptor Ab
  2. Thyroid peroxidase Ab
  3. Thyroglobulin Ab

95

What HLA polymorphism is associated with Graves?

HLA-D3

96

What is the histologic appearance of Graves Disease?

Increased height and number of follicular cells

Decreased colloid with sawtooth edges

97

What are the major clinical findings of Graves?

  1. Thyrotoxicosis
  2. Diffuse thyroid hyperplasia
  3. Ophthalmopathy (exophthalmos)
    • increased glycosaminoglycan and adiposite deposition behind eye
  4. Dermopathy (myxedema)
    • scaly thickening and induration
    • most common in shins

98

What are the lab findings for Graves?

  • Decreased TSH
  • Elevated FT3 and FT4 (stimulated by binding of Ab to TSH receptor)

99

What can increased intake of thiocynates cause?

Endemic goiter

(Diffuse Non-toxic/Simple Goiter)

Thiocynates block iodine transport

Found in cabbage, cassava, cauliflower

100

What is the appearance of diffuse non-toxic goiter?

Diffusely enlarged w/o nodularity

101

What are the characteristics of the hyperplastic phase and the colloid involutional phase of Diffuse Non-toxic Goiter?

  • Hyperplastic​
    • Occurs first
    • crowded follicular cells
    • Reduced colloid in follicles
  • Colloid Involutional Phase
    • accumulation of colloid w/i enlarged follicles
    • Follicular flattening and atrophy

102

What is a plunging goiter?

Extends behind sternum, trachea, esophagus

aka intrathoracic goiter

103

What is Plummer's disease?

Development of autonomous nodules in longstanding multinodular goiter

Results in hyperthyroidism

104

Which is more likely to be more neoplastic: solitary or multiple nodules?

Solitary

105

Which is more likely to be more neoplastic: nodules in a younger patient or an older patient?

Younger patient

106

Which is more likely to be more neoplastic: Nodules in a male or female patient?

Male

107

Which is more likely to be more neoplastic: Hot nodules or cold nodules?

Cold

108

What mutation is found most often in Follicluar Thyroid adenoma?

GNAS

RAS, PIK3CA, and PAX8-PPARG fusion gene can also be found in some, but are also found in thyroid malignancies

109

What differentiates Follicular adenoma from Follicular CA?

  • Follicular adenoma
    • well demarcated (w/capsule)
  • Follicular CA
    • invades through capsule

110

What are the clinical features of Follicular Adenoma?

  • Painless
  • Unilateral
  • Cold nodule

 

111

RET mutation is found in which types of Thyroid CA?

  1. Papillary CA
  2. Medullary Thyroid CA

112

NTRK1 gain of function mutation is found in which types of Thyroid CA?

  1. Papillary CA

113

BRAF mutation is found in which types of Thyroid CA?

  1. Papillary CA
    • assoc. w/ metastatic disease and extrathyroid extension

114

RAS and PIK3CA mutation is found in which types of Thyroid CA?

  1. Follicular CA
  2. Anaplastic CA

115

PTEN mutation is found in which types of Thyroid CA?

  1. Follicular

116

PAX8-PPARG fusion gene is found in which types of Thyroid CA?

  1. Follicular CA
  2. (Papillary adenomas)

117

TP53 and beta-catenin mutation is found in which types of Thyroid CA?

  1. Anaplastic CA
    • probably relates to aggressive behavior

118

What is the most common form of thyroid cancer?

Papillary CA

119

What is the most common thyroid CA associated with radiation exposure?

Papillary CA

120

What are the microscopic features of Papillary CA?

  • Papillae
  • "Orphan Annie Eye" nuclei
  • Psammoma bodies
  • Intranuclear inclusions / invaginations

121

What is the clinical course of Papillary CA?

  • Present as asymptomatic nodule
  • May spread to cervical nodes
  • Overall good prognosis

 

122

Follicular variant Papillary thyroid CA

  • Histology
  • Mutation
  • Prognosis

  • Histology
    • No papillae
    • Follicular pattern
    • Orphan Annie Eye nuclear change
  • Mutation
    • RAS mutations
    • BRAF
  • Prognosis
    • Encapsulated form has best prognosis
    • Infiltrative form more aggressive

 

123

Tall Cell Variant of PTC

  • Population
  • Histology
  • Mutation
  • Prognosis

  • Population
    • older individuals
  • Histology
    • Tall columnar cells
  • Mutation
    • BRAF
    • RET/PTC translocation
  • Prognosis
    • Higher incidence of extension, vascular invasion, and metastasis
    • More aggressive

 

124

Diffuse Sclerosing Variant of PTC

  • Population
  • Histology
  • Mutation
  • Prognosis

  • Population
    • children and young adults
  • Histology
    • papillae mixed with squamous cell nests
    • fibrosis
  • Mutation
    • RET/PTC mutation
  • Prognosis
    • 1/2 nodal metastasis

125

Are papillary microcarcinomas malignant?

They are precursors to standard PTC

126

Which Thyroid Carcinoma has increased incidence in areas of endemic iodine deficiency?

Follicular Carcinoma

127

What is the gross and microscopic morphology of Follicular Carcinoma?

  • Gross
    • Slowly growing painless nodule
    • Single nodule
    • May be well circumscribed or widely infiltrative
  • Micro
    • Follicular cell pattern w/ nest or sheet of cells
    • No Orphan Annie Eye nuclei, papillae, or psammoma bodies

128

How do metastasis travel in papillary vs follicular thyroid CA?

  • Papillary
    • via lymphatics
  • Follicular
    • via blood

 

129

Levels of what molecule are followed for recurrence of Follicular TC?

Thyroglobulin

130

Anaplastic Thyroid CA

  • Morphology
  • Clinical Course

  • Morphology
    • Giant cells
    • Spindle cells
  • Clinical Course
    • Rapidly growing bulky mass of neck
    • Can metastasize
    • Death in less han a year

 

131

Medullary Carcinoma

  • Cells of origin
  • Mutations
  • Morphology
  • Clinical course

  • Cells of origin
    • Parafollicular C cells
    • secrete calcitonin
  • Mutations
    • RET
    • MEN 2A and 2B
    • Familial forms
  • Morphology
    • Neoplastic cells in amyloid stroma
  • Clinical course
    • May have paraneoplastic syndromes
      • Diarrhea (VIP)
      • Cushing's syndrome (ACTH)

 

132

What is the most aggressive form of medullary TC?

MEN 2B

133

What lines Thyroglossal duct cyst?

Squamous or respiratory epithelium

Thyroid tissue

134

What disease process is pictured below?

Follicular adenoma

135

What disease process is pictured below?

Follicular CA of Thyroid

136

What disease process is pictured below?

L: Follicular Adenoma

R: Follicular CA of Thyroid

137

What disease process is pictured below?

Subacute De Quervain Granulomatous Thyroiditis

138

What disease process is pictured below?

Graves

139

What disease process is pictured below?

Hashimoto Thyroiditis

140

What disease process is pictured below?

Medullary CA of Thyroid

141

What disease process is pictured below?

Multinodular goiter

142

What disease process is pictured below?

Papillary CA of Thyroid

143

What is the most common cause of primary hyperparathyroidism?

Adenoma

144

What genetic mutations are associated with sporadic adenoma?

Cyclin D1 gene overexpression

MEN 1 gene mutation even in absence of MEN 1

145

What is the function of the MEN 1 gene?  What manifestations does it cause in primary hyperparathyroidism?

  • Function
    • Tumor suppressor
  • Manifestation
    • adenoma
    • hyperplasia

 

146

What is the function of the MEN 2A gene?  What manifestation does it cause in primary hyperparathyroidism?

  • Function
    • mutation in RET gene
    • activates tyrosine kinase receptor
  • Manifestation
    • Parathyroid hyperplasia

147

What is the morphology of Parathyroid adenomas?

Loss of fat

Predominantly composed of chief cells

0.5 - 5.0 gm

148

Familial Hypocaliuric Hypercalcemia

  • Inheritance
  • Mutation
  • Morphology
  • Course

  • Inheritance
    • AD
  • Mutation
    • CASR LOS mutation (Ca sensing gene)
      • Increases PTH
      • Hypercalcemia and hypocalciuria
  • Morphology
    • mild hyperplasia
  • Course
    • benign

 

149

What is the morphology of Primary Parathyroid Hyperplasia?

  • All glands are involved
  • Weight of all glands less than 1.0 gm
  • Hyperplasia
    • Chief cell hyperplasia
    • Oxyphil / water clear cell hyperplasia
  • Decreased stromal fat

150

What is the morphology of Parathyroid carcinomas?

One gland involved

up to 10 gm in size

 

151

What determines malignancy in Parathyroid CA?

Invasion or metastasis

(Cell histology is unreliable)

152

What are the labs for Primary Hyperparathyroidism?  Hypercalcemia of cancer?

  • Primary Hyperparathyroidism
    • Increased PTH
    • Increased Ca
    • Decreased PO4
  • Hypercalcemia of Cancer
    • increased PTH-related protein
    • Low - Normal PTH
    • Increased Ca
    • Normal - Increased PO4

153

What symptoms are associated with Primary Hyperparathyroidism?

"Painful bones, renal stones, abdominal groans, and psychic moans"

154

What is the most common cause of Secondary Hyperparathyroidism?

Renal Failure

155

What is the mechanism of Secondary Hyperparathyroidism?

Chronic renal failure

  • Decreased PO4 excretion and increased serum lvls
  • Phosphorus binds free calcium
    • Decreased free Ca
  • Stimulation of PTH
  • Increased Ca
  • (Also low levels of Vit D)

 

156

What is the morphology,clinical course, and treatment for Secondary Hyperparathyroidism?

  • Morphology
    • Hyperplasia
  • Course
    • Renal osteodystrophy
      • bone probs
    • Calciphylaxis
      • blood vessel calcification leading to damage to other orgnas
  • Treatment
    • Vit D supplementation
    • PO4 binders

 

157

What is tertiary hyperparathyroidism?

Autonomy of PTH activity in those with secondary hyperparathyroidism, resulting in hypercalcemia

158

What are the components of DiGeorge syndrome?

  • Absence of parathyroid glands
  • Thymic aplasia
  • CV defects

159

Mutation in the AIRE gene results in what?

Autoimmune Hypoparathyroidism

(AutoImmune REgulator = AIRE)

160

Mutation in CASR results in what? What is its function?

AD Hypoparathyroidism

Function: Ca sensing, mutation causes hightened sensing

161

What is Chvostek sign?  What diagnosis does it indicate?

  • Sign
    • Tapping along course of facial nerve
    • If it induces contraction of the muscles of the eye, mouth, or nose, it may be due to subclinical hypoparathyroidism

162

What is Trousseau sign?  What diagnosis does it indicate?

  • Sign
    • inflate a bp cuff for several minutes
    • induces carpal spasm 
  • Diagnosis
    • hypoparathyroidism

163

What are the clinical manifestations of hypoparathyroidism?

  • Tetany
  • Circumoral numbness
  • Parasthesias
  • Mental status changes
  • Cataracts
    • Calcification of the lenses
  • Prolonged QT
    • Conduction abnormalities

164

Hypoparathyroidism causes calcification in what area of the brain?

Basal ganglia

165

What is the cause of Pseudohypoparathyroidism?

end-organ resistance to PTH

166

Albright hereditary osteodystrophy

  • Inheritance
  • Type of disease
  • Symptoms
  • Labs

  • Inheritance
    • AD
  • Type of disease
    • Pseudohypoparathyroidism
  • Cause
    • end-organ resistance to:
      • PTH
      • TSH
      • LH/FSH
  • Symptoms
    • Short stature
    • obesity
    • Short metacarpal and metatarsal bones
    • dimples replace 3rd and 4th knuckles
  • Labs
    • Elevated PTH
    • Decreased Ca
    • Increased PO4

167

What is pseudopseudohypoparathyroidism?

Same physical findings as AHO but w/o PTH, Ca, and PO4 abnormalities

168

What are the criteria of malignancy for Pancreatic Neuroendocrine Tumors (PanNETs)?

  • Local invasion
  • Vascular invastion
  • Metastasis

NOT  histology

169

Are most PanNETs benign or malignant?

malignant

Except insulinomas (90% benign)

170

What genetic alterations are associated with Sporadic PanNETs?

  • MEN1
  • PTEN / TSC2
    • activate oncogenic TOR signaling pathway
  • ATRX / DAXX
    • activating mutations

171

A Patient presents with confusion after exercising heavily.  Blood sugar is below 50.  Labs show high levels of insulin.  The patient is given glucose and promptly recovers.  What is the diagnosis?

Insulinoma

172

What is the histology of Insulinoma?

  • Solitary tumor
  • Deposition of amyloid in extracellular tissues

173

What is the treatment of Insulinoma?

Surgical removal

174

What is the "Gastrinoma Triangle"?

Duodenum, peripancreatic soft tissue, and pancreas

Areas where Gastrinomas may occur

175

Patient presents multiple gastric and duodenal ulcers.  They are unresponsive to therapy.  What is the diagnosis?

Gastrinoma

(aka Zollinger Ellison Syndrome)

176

What is the presentation in Alpha-cell PanNETs?  What population is most affected?

  • Presentation
    • High glucagon levels
    • Mild diabetes
    • Rash
      • Necrolytic migrating erythema
    • Anemia
  • Population
    • Peri and post menopausal women

177

What is the presentation in Delta cell PanNETs?

  • Increased somatostatin
  • Diabetes mellitus
  • Cholelithiasis
  • Steatorrhea
  • Hypochlorhydria

 

178

What is the presentation in VIPoma?

WDHA Syndrome

  • Watery Diarrhea
  • Hypokalemia
  • Achlorhydria

179

What disease process is pictured below?

Solitary Chief Cell Parathyroid Adenoma

180

What disease process is pictured below?

Insulinoma

181

What disease process is pictured below?

Dissecting Osteitis

182

What disease process is pictured below?

Craniopharyngeoma

183

What cells are pictured below?

beta cells of the pancreas

184

What cells are pictured below?

L: alpha cells

R: delta cells of pancreas

185

What is the normal blood glucose and HbA1c measurements?

Blood glucose: 70-120

HbA1c: 4-6%

186

What are the diagnostic values of the following for Diabetes Mellitus?

  • Random glucose
  • Fasting glucose
  • OGTT
  • HbA1c

  • Random glucose
    • >200
  • Fasting glucose
    • >126
  • OGTT
    • >200
  • HbA1c
    • >6.5%

187

What are the diagnositc values of the following for pre-diabetes?

  • Fasting glucose
  • OGTT
  • HbA1c

  • Fasting glucose
    • 100-125
  • OGTT
    • 140-199
  • HbA1c
    • 6 - 6.5%

188

Which type of diabetes is increased by adiposity?

Type 2

It increases insulin resistance by downregulating receptors

189

What are the differences between Type 1 and Type 2 DM histologically?

  • Islet size
    • T1: decreased number and size
    • T2: Subtle reduction in mass
  • Other
    • T1: Leukocytic infiltrate in islets (insulinitis)
    • T2: Amyloid deposition in islets; may have fibrosis

 

190

What type of arteriolosclerosis is present in diabetic macrovascular disease?

Hyaline arteriolosclerosis: diffuse thickening of membranes

Leaky capillaries

191

What do the afferent and efferent glomerular hilar arterioles show in diabetic nephropathy?

Hyalnie thickening

Involvement of both is characteristic of DM

192

What are the gross findings of chronic pyelonephritis in diabetics?

Shurnken kidneys

Deep U-shaped scars

193

What causes Diabetic Retinopathy?

Hypoxia-induced overexpression of VEGF in the retina

194

How does Diabetic neuropathy present in the upper extremity?

Glove and stocking pattern

195

What causes the increased susceptibility to infection in DM?

Defects in:

  • Chemotaxis
  • Endothelial adherance
  • Microbicidal activity
  • Cytokine production

And vascular compromise

196

What disease process is pictured below?

Amyloidosis in Type 2 DM - induced Diabetic nephropathy

197

What disease process is pictured below?

Diabetic nephropathy

198

What disease process is pictured below?

Insulinitis: leukocytic infiltrate in islet

Type 1 DM

199

What disease process is pictured below?

Nephrosclerosis with long-standing DM

200

What is the most common cause of Cushing Syndrome?

Iatrogenic

201

What is Cushing disease?

Pituitary hypersecretion of ACTH

202

hat is the most common cause of CUshing Disease?

ACTH producing microadenoma

203

What is the most common cause of ectopic ACTH secretion in Cushing Syndrome?

Bronchogenic (Oat Cell) CA

204

What is Massive Macronodular Adrenocortical Disease?

Primary adrenal hyperplasia

Over-expression of various hormone receptors causes hyperplasia in response to ADH, GIP, LH

205

What is Microdulular - Primary Pigmented Nodular Adrenal Disease?

Primary Adrenal Hyperplasia

Bilateral pigmented nodules

May be assoc. w/ Carney's complex (PRKAR1A gene mutation)

206

What are the lab results for the following tests in Pituitary Cushing?

  • ACTH
  • Suppression of Cortisol w/ high dose Dexamethasone
  • ACTH level w/ CRH stimulation

  • ACTH
    • Increased
  • Suppression of Cortisol w/ high dose Dexamethasone
    • >50%
  • ACTH level w/ CRH stimulation
    • Increased

207

What are the lab results for the following tests in Adrenal Cushing?

  • ACTH
  • Suppression of Cortisol w/ high dose Dexamethasone
  • ACTH level w/ CRH stimulation

  • ACTH
    • Decreased
  • Suppression of Cortisol w/ high dose Dexamethasone
    • <50%
  • ACTH level w/ CRH stimulation
    • No change

208

What are the lab results for the following tests in Ectopic Cushing?

  • ACTH
  • Suppression of Cortisol w/ high dose Dexamethasone
  • ACTH level w/ CRH stimulation

  • ACTH
    • Increased
  • Suppression of Cortisol w/ high dose Dexamethasone
    • <50%
  • ACTH level w/ CRH stimulation
    • No change

209

What are the following lab values for Primary vs Secondary Hyperaldosteronism?

  • Aldosterone
  • Renin
  • Na
  • K

  • Aldosterone
    • Primary = Increased
    • Secondary = Increased
  • Renin
    • Primary = Low
    • Secondary = High
  • Na
    • Primary = Increased
    • Secondary = Increased
  • K
    • Primary = Decreased
    • Secondary = Decreased

210

What mutation may be present in those with Bilateral Idiopathic Hyperaldosteronism?

KCNJ5

Encodes a Potassium Channel

211

What is Conn Syndrome?  What population does it affect?

  • Conn Syndrome
    • Aldosterone - secreting adenoma
  • Population
    • Men more than women
      • (Only endocrine disorder studies so far!)

212

What genetic mutation causes Glucocorticoid Remediable Hyperaldosteronism?

Rearrangement on chromosome 8

Puts aldosterone synthase under control of ACTH promoter

Aldosterone production is under the control of the ACTH feedback loop

213

In what syndrome is aldosterone inhibited by dexamethasone?

Glucocorticoid remediable hyperaldosteronism?

214

What is the primary symptoms in hyperaldosteronism?

HTN

215

What are the symptoms of late-onset adrenal virilism in 21-OH deficiency?

  • Appear in late childhood or adolescence
  • May be asymptomatic
  • Symptoms:
    • hirsuitism
    • Acne
    • Menstrual irregularities

 

216

What should be suspected in any neonate with ambiguous genitalia?

Congenital Adrenal Hyperplasia (CAH)

217

How does androgen excess present in males?

Enlargement of external genitalia

Precocious puberty

Oligospermia

218

How does androgen excess present in females?

  • Masculinization
    • Infants
      • Clitoral hypertrophy
      • Psuedohermaphroditism
    • Post-pubertal
      • Oligomenorrhea
      • Hirsuitism
      • Acne

 

219

Increased plasma 17-hydroxyprogesterone is diagnostic of what syndrome?

21-OH deficiency

220

Waterhouse-Friderichsen Syndrome

  • Population
  • Cause
  • Signs / Symptoms

  • Population
    • Most common in children
  • Cause: infectious
    • Neisseria meningitidis most common
    • Pseudomonas
    • Staph
    • H. influenza
  • Signs / Symptoms
    • Massive bilat adrenal hemorrhage
      • Adrenocortical insufficiency
      • Rapidly progressive hypotension
        • Shock
      • DIC

 

221

Autoimmune Polyendocrine Syndrome Type 1

  • Cause
  • Symptoms

  • APST1
    • Form of Addison's
  • Cause
    • Mutation in AIRE (autoimmune regulator gene)
    • Ab to IL-17 and IL-22
      • crucial to fungal immunity
    • Chronic Mucocutaneous Candidiasis
  • Symptoms
    • Ectodermay dystrophy
    • Assoc. w/ combo of autoimmune disorders

 

222

Autoimmune Polyendocrine Syndrome Type 2

  • Population
  • Cause
  • Symptoms

  • APST2
    • Form of Addison's
  • Population
    • Early adulthood
  • Cause
    • Genetic HLA linkage
  • Symptoms
    • Autoimmune adrenalitis
    • w/ Autoimmune thyroiditis or Type I DM

223

Addison's Disease induced by carcinoma is most likely from mets from which organs?

  • Lungs
  • Breast

224

What is the clinical course of Primary Adrenocortical Insufficiency?

  • Hyperpigmentation
    • sun-exposed areas
    • pressure points
  • Hyponatrema
    • Volume depletion
    • HypoTN
  • Hyperkalemia
  • Possible Hypoglycemia

 

225

What is the screening test for Primary and Secondary Adrenocortical Insufficiency?

Low response to Cosyntropin Stimulation Test

226

What are the values of the following lab tests in Primary vs Secondary Adrenocortical Insufficiency?

  • Cosyntropin Stimulation Test
  • ACTH
  • ACTH test response

  • Cosyntropin Stimulation Test
    • Primary: Low response
    • Secondary: Low response
  • ACTH
    • Primary: Increased
    • Secondary: Low
  • ACTH test response
    • Primary: None
    • Secondary: Increased cortisol

 

227

Are adrenal adenomas or carcinomas more common in children?

Carcinoma

228

Are carcinomas or adenomas more likely to be virilizing?  Have Cushing Syndrome?  Hyperaldosteronism?

  • Virilizing = CA
  • Cushing = adenoma
  • Hyperaldosteronism = adenoma

 

229

What is the Rule of 10% in Pheochromocytoma?

  • 10% extra-adrenal (paragangliomas)
  • 10% sporatic are bilateral (50% in familial)
  • 10% adrenal are malignant
  • 10% associated with familial (actually 25%)
  • 10% not associated with HTN

230

What is the histology of Pheochromocytoma?

Zellballen pattern (trabeculae or nests of cells)

Prominent vascularity

231

How is malignancy determined?

Exclusively by metastasis

232

What labs are used to diagnose Pheochromocytoma?

  • Metanephrines
  • VMA
  • (either in urine or plasma)

233

What are the abnormalities present in MEN-1?  What mutation causes it?

  • Abnormalities: the 3 P's
    • Pituitary adenomas
      • Most common: Prolactinoma
    • Parathyroid hyperplasia or adenoma
    • Pancreatic Neuroendocrine tumors
  • Mutation
    • MEN-1 gene on 11q13

 

 

234

What abnormalities are present in MEN-2A?  What is the associated mutation?

  • Abnormalities
    • Medullary Thyroid CA
    • Pheochromocytoma
    • Parathyroid hyperplasia
  • Mutation
    • RET gene
    • chromosome 10

 

235

What abnormalities are present in MEN-2B?  What is the associated mutation?

  • Abnormalities
    • Medullary Thyroid CA
    • Pheochromocytoma
    • Mucosal neuromas
    • Marfanous habitis
  • Mutation
    • RET gene

 

236

Is Medullary Thyroid CA more aggressive in MEN-2A or MEN-2B?

2B

237

What is the composition of Pineoblastomas?  How does it spread? What population is most commonly affected?

  • Composition
    • Primitive neuroectodermal cells
  • Spread
    • Spread along CSF pathways
  • Population
    • Pediatrics

238

What is the composition of Pineocytomas?  What symptoms result? What population is most commonly affected?

  • Composition
    • more differentiated cells (glial, neuronal, retinal)
  • Symptoms
    • Headache
    • Visual disturbance
    • Mental deterioration
  • Population
    • Adults