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(C) CM 1A: Heme/Onc/Endo > Lecture 15: Adrenal Disorders Part 2 > Flashcards

Lecture 15: Adrenal Disorders Part 2 Flashcards

1
Q

What kind of inheritance is Congenital Adrenal Hyperplasia? (CAH)

A

Autosomal Recessive

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2
Q

What does CAH involve? What is the result?

A

Involves a steroidogenic enzymatic block, resulting in cortisol deficiency.

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3
Q

What is the most common enzyme deficiency in CAH? What does it result in an excess of?

A

21-hydroxylase (21A), which is 90-95% of CAH.
Results in an androgen excess.
Results in a cortisol AND aldosterone deficiency.

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4
Q

What are the 3 common pathophysiological presentations of 21A deficiency CAH?

A
  1. Salt-wasting CAH with aldosterone def.
  2. Virilizing CAH with androgen excess.
  3. Non-classic CAH
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5
Q

What other enzymatic deficiencies are linked to CAH?

A
  • 17A1
  • HSD3B2
  • 11B1
  • Oxidoreductase
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6
Q

Which enzyme deficiency results in a similar deficiency like 21A?

A

11-beta-hydroxylase.

Appears 1 step before the pathways for aldosterone and cortisol.

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7
Q

What is the precusor steroid that becomes estrogen and testosterone?

A

DHEA

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8
Q

What are the two pathophysiological mechanisms that generate all the S/S of CAH?

A
  1. Mineralcorticoid and glucocorticoid deficiency.
  2. Androgen excess.
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9
Q

What are the 3 clinical presentation types for females with CAH?

A
  1. Classic virilizing CAH
  2. Simple virilizing CAH
  3. Non-classic CAH
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10
Q

How does classic virilizing CAH appear in females?

A

Genital atypia (clitoral enlargement, labial fusion, urogenital sinus formation)
Aldosterone insufficiency S/S

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11
Q

How does simple virilizing CAH present in females?

A
  • Milder genital atypia.
  • Variable adrenal insufficiency
  • Precocious puberty, accelerated growth and skeletal maturity.
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12
Q

How does nonclassic CAH present in females?

A
  • Oligomenorrhea
  • Hirsutism
  • Infertility
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13
Q

What are the 2 common clinical presentations for males with CAH?

A
  1. Classic salt-wasting adrenal hyperplasia
  2. Simple virilizing adrenal hyperplasia
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14
Q

How does classic salt-wasting CAH present in males?

A
  • Normal appearing genitalia aside from hyperpigmented scrotum and enlarged phallus.
  • Failure to thrive symptoms (similar to classic virilizing CAH)
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15
Q

How does simple virilizing CAH present in males?

A

Precocious puberty at 2-4 with pubic hair, body odor, accelerated linear growth and skeletal maturation

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16
Q

What can happen to male genitalia with the other causes of CAH?

A

Ambiguous genitalia or female genitalia due to the inadequate testosterone production.

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17
Q

What steroid do CYP17A1 and HSD3B2 cause a massive buildup of?

A

Pregnenolone

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18
Q

How do we workup CAH?

A
  • Newborn screening
  • Ambiguous genitalia = hormonal, genetic, and chromosomal tests.
  • Hormonal workup
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19
Q

Serum levels of what two steroids is elevated in 21-hydroxylase deficiency for CAH?

A

17-hydroxyprogesterone
DHEA

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20
Q

What is a BMP primarily ordered for in a workup for CAH?

A

Electrolyte abnormalities due to aldosterone deficiency.

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21
Q

When is a CT abdomen indicated for CAH workup?

A

Ruling out bilateral adrenal hemorrhage.
Mainly used in people WITHOUT ambiguous genitalia.

Waterhouse-friedrichsen syndrome

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22
Q

When is a pelvic US indicated for CAH workup?

A

Assessing organic anomalies associated with ambiguous genitalia, such as renal or sex organ anomalies.

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23
Q

What is the overall treatment goal for CAH?

A

Smallest doses of gluco/mineralcorticoids to adequately suppress androgen precusors and promote normal growth.

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24
Q

How do we treat CAH?

A

Hydrocortisone treatment with initial dosing and then tapering down to maintenance.

Fludrocortisone daily

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25
Q

What is primary hyperaldosteronism? Main causes?

A

Hypersecretion of aldosterone that DOES NOT suppress with sodium loading.

Main causes are
* Bilateral idiopathic adrenal hyperplasia (60-70%)
* Unilateral aldosterone-producing tumor (30-40%)

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26
Q

What are the two types of aldosterone-producing tumors?

A

Benign, aka Conn syndrome.

Malignant carcinoma.

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27
Q

How does primary hyperaldosteronism typically present?

A
  • Refractory HTN from an early age with no risk factors.
  • HA
  • HypoK inconsistently
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28
Q

How does a BMP typically present for a person with primary hyperaldosteronism?

A
  • HyperN
  • Possible HypoK
  • Increased CO2
  • Or normal :)
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29
Q

What PRA and plasma aldosterone concentration (PAC) do we expect in a pt with primary hyperaldosteronism?

A

Obtaining it in the AM in a seated position
* PRA low
* PAC elevated
* Ratio of aldosterone to renin is >20-25 (95% sensitivity)

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30
Q

When is the recommended time to draw PAC/PRA labs?

A

Out of bed for 2 hrs + seated for 15-60 minutes prior to blood draw.

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31
Q

What medications can affect PAC/PRA lab results?

A

RAAS system inhibitors

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32
Q

What oral testing can be used to confirm primary hyperaldosteronism?

A

Oral salt loading. (3 days of salt intake > 5g/day)
1. Measure Serum K daily
2. On day 3, assess electrolytes and start a 24h urine for aldosterone, Na, and creatinine.
3. Urine aldosterone > 12 mcg/24h with normal everything else = confirms hyperaldosteronism.

33
Q

What IV testing can be used to confirm primary hyperaldosteronism?

A

IV 2L NS over 4 hrs while seated.

Plasma aldosterone > 10ng = confirms.

34
Q

What findings on a CT abd scan correlate to a benign tumor? Malignant tumor? Hyperplasia? Negative?

A

Benign = < 4cm
Malignant => 4 cm or growth or 10+ HU
Bilateral thickening or micronodular changes indicate hyperplasia.

Adrenal vein sampling if surgery considered

35
Q

What is adrenal vein sampling and when is it recommended?

A

Assessing aldosterone levels directly from the adrenal vein.

Indicated only if severely uncontrolled HTN + adrenalectomy is being considered for tx. Determines which gland is hyperactive.

36
Q

What is the treatment for an unilateral adrenal adenoma?

A

Unilateral adrenalectomy

37
Q

What is the treatment for bilateral adrenal hyperplasia?

A

Medical management.

Removal will cause adrenal insufficiency.

38
Q

What are the mainstays of managing primary hyperaldosteronism?

A
  • Low Na diet
  • K+ sparing diuretics
  • DHP CCBs (nifedipine to reduce production of aldosterone)
  • ACEI or ARB
39
Q

What are the 3 categories for adrenal tumors?

A
  • Functional (hormone-secreting) or silent
  • Benign or malignant
  • Incidentaloma
40
Q

What CT findings indicate malignancy?

A
  • > 4cm
  • Nodule growth (with previous)
  • Density > 10 HU
41
Q

What does a pheo secrete? Where is it usually found?

A

Epi and NE

Generally found as a vascularized tumor in the medulla. Comes from the sympathetic paraganglia.

42
Q

How are pheos categorized by location?

A

90% adrenal medulla.
10% extra-adrenal

43
Q

What are most pheos caused by?

A

Idiopathic!

30% are genetic.

44
Q

What is the avg age of onset of pheo and what is the most associated dx with it?

A

Average age: 40

HTN Dx

45
Q

What is the rule of 10s for pheo?

A

10% are bilateral
10% are extra-adrenal
10% are malignant

46
Q

What is the classic triad for pheo?

A
  1. Episodic palpitations
  2. HA
  3. Profuse diaphoresis

Paroxysms last < 1 hour
Precipitated by stress, change in position, peeing, and meds.

Adding in HTN makes it highly suggestive for pheo.

47
Q

What is the most sensitive test to screen for pheo? How does it work?

A

Plasma free metanephrines.
1. Sit for 15 mins before collection.
2. If elevated, lay supine for 30 mins in a quiet room and then repeat.

Normal = R/O pheo.
Elevated = check urine metanephrines.

48
Q

How is a urine fractionated metanephrine and creatinine test done? What makes it diagnostic for pheo?

A
  1. 24hr collection ideally.

Diagnostic = 3x UNL for BOTH serum and urine metanephrines.

49
Q

When is CT used for imaging for pheo? When is MRI used instead?

A

CT is for gen pop.
MRI is preferred in children or pregnant women.

50
Q

What is a PET scan used for in pheo workup?

A

R/o malignancy

51
Q

How is pheo managed?

A

Adrenal surgeon due to resection need and BP being VERY labile during surgery.

52
Q

What is the main concern of post-pheo removal?

A

ACTH levels, since high risk of post-surgical adrenal insufficiency.

Pheos are generally medullary, so it requires a lot of adrenal gland removal.

53
Q

What is the BP goal for a pheo pt awaiting surgery? What is the preferred antiHTNs and treatment protocol?

A

<160/90

Alpha-adrenergic blockers such as doxazosin, prazosin, or terazosin.

High salt, increased water intake. (Prevents orthostatic hypotension since their HTN is episodic)

54
Q

What are the 4 main complications associated with pheos?

A
  • HTN Crisis
  • Cardiac arrhythmias
  • CVA
  • MI
55
Q

What qualifies as a functional adrenal adenoma?

A

Benign neoplasm > 1cm arising from cortex.
Must secrete steroids independently from ACTH or RAA system.

56
Q

Name the 3 layers of cortex and medulla and what disease corresponds to an adenoma there.

A

Zona glomerulosa: primary aldosteronism
Zona fasciculata: Cushing’s disease
Zona reticularis: hyperandrogenism
Medulla: Pheo

Go Find Rex, Make Good Sex

57
Q

What are the two risk factors for developing an adrenal carcinoma?

A
  • Children living in southern Brazil
  • Adrenal hyperplasia
58
Q

When are functional adrenal carcinomas more common? Non-functional?

A

Functional: birth-10y
Non-functional: 30-40y

Functional is more common, 60% of adrenal carcinomas.

59
Q

How do non-functional adrenal carcinomas present if they don’t secrete steroids?

A

Malignancy/metastasis S/S
* Fever
* Weight loss
* Abd pain/tenderness
* Abd pain
* Back pain

Rarely caught prior to metastasis since no definitive symptoms.

60
Q

What would an adrenal carcinoma be like if it was palpable?

A

Palpable, firm, adherent mass of the abdomen.

Palpating it is rare since obesity is so prevalent.

61
Q

What kind of CT would you order to workup a suspected adrenal carcinoma?

A

CT of the abdomen and pelvis WITH contrast.

62
Q

If I get a PET scan of a pt with a known malignancy with high uptake of tracer and we suspect adrenal carcinoma, whats the next step?

A

Fine needle aspiration.

We need to r/o metastasis if a patient has a known malignancy (AKA making sure the carcinoma isn’t originally from the lungs)

PHEO must be ruled out prior to a FNA.

63
Q

When do we NOT do a fine-needle aspiration?

A

Not for differentiating between adenoma vs carcinoma since seeding risk is high.

Must r/o pheo first since a FNA will place the patient into HTN crisis.

64
Q

How do we stage an adrenal carcinoma?

A

Standard TNM staging.

65
Q

What is the long-acting glucocorticoid?

A

Dexamethasone

66
Q

What is the short-acting glucocorticoid?

A

Hydrocortisone

67
Q

What glucocorticoid has a syrup formulation?

A

Prednisolone

Can give to someone who cannot swallow.

68
Q

How do glucocorticoids help reduce swelling?

A

Reversing capillary permeability

69
Q

What are the 3 CIs for glucocorticoid use?

A

Allergy
Coadministration with live vaccines
Systemic fungal infections

70
Q

When does glucorticoid dosing require tapering down?

A

If therapy lasts > 7 days

71
Q

What labs should we monitor in someone with daily glucocorticoid use?

A
  • Elevated BG
  • Na Retention
  • K loss
72
Q

What are the main endocrine effects of glucocorticoid use?

A
  • Suppression of HPA
  • Growth failure in children
  • Insulin resistance
  • DM/abnormal glucose tolerance test
73
Q

What are the main GI SE of glucocorticoids?

A

Gastric irritation
Peptic ulcers

74
Q

What are the main CV SE of glucocorticoids?

A
  • HTN
  • CHF in predisposed pts
75
Q

How does glucocorticoid use affect your WBC Diffs?

A

Leukocytosis
Neutrophilia
Lymphopenia
Eosinopenia
Monocytopenia

AKA everything down except neutrophils.

76
Q

What is the MSK concern with long-term glucocorticoid use?

A

Osteoporosis

77
Q

What is the ophthalmic concern with glucocorticoid use?

78
Q

What are the main CNS SE of glucocorticoid use?

A
  • Sleep disturbances/insomnia (Main symptom)
  • Euphoria, depression, mania, psychosis
79
Q

What is the most pertinent electrolyte abnormality that can occur with glucocorticoid use?

(C) CM 1A: Heme/Onc/Endo (28 decks)

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