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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
What is primary hyperaldosteronism? Main causes?
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%)
26
What are the two types of aldosterone-producing tumors?
Benign, aka Conn syndrome. Malignant carcinoma.
27
How does primary hyperaldosteronism typically present?
* Refractory HTN from an early age with no risk factors. * HA * HypoK inconsistently
28
How does a BMP typically present for a person with primary hyperaldosteronism?
* HyperN * Possible HypoK * Increased CO2 * Or normal :)
29
What PRA and plasma aldosterone concentration (PAC) do we expect in a pt with primary hyperaldosteronism?
Obtaining it in the AM in a seated position * PRA low * PAC elevated * Ratio of aldosterone to renin is >20-25 (95% sensitivity)
30
When is the recommended time to draw PAC/PRA labs?
Out of bed for 2 hrs + seated for 15-60 minutes prior to blood draw.
31
What medications can affect PAC/PRA lab results?
RAAS system inhibitors
32
What oral testing can be used to confirm primary hyperaldosteronism?
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
What IV testing can be used to confirm primary hyperaldosteronism?
IV 2L NS over 4 hrs while seated. Plasma aldosterone > 10ng = confirms.
34
What findings on a CT abd scan correlate to a benign tumor? Malignant tumor? Hyperplasia? Negative?
Benign = < 4cm Malignant => 4 cm or growth or 10+ HU Bilateral thickening or micronodular changes indicate hyperplasia. Adrenal vein sampling if surgery considered
35
What is adrenal vein sampling and when is it recommended?
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
What is the treatment for an unilateral adrenal adenoma?
Unilateral adrenalectomy
37
What is the treatment for bilateral adrenal hyperplasia?
Medical management. Removal will cause adrenal insufficiency.
38
What are the mainstays of managing primary hyperaldosteronism?
* Low Na diet * K+ sparing diuretics * DHP CCBs (nifedipine to reduce production of aldosterone) * ACEI or ARB
39
What are the 3 categories for adrenal tumors?
* Functional (hormone-secreting) or silent * Benign or malignant * Incidentaloma
40
What CT findings indicate malignancy?
* >4cm * Nodule growth (with previous) * Density > 10 HU
41
What does a pheo secrete? Where is it usually found?
Epi and NE Generally found as a vascularized tumor in the medulla. Comes from the sympathetic paraganglia.
42
How are pheos categorized by location?
90% adrenal medulla. 10% extra-adrenal
43
What are most pheos caused by?
Idiopathic! 30% are genetic.
44
What is the avg age of onset of pheo and what is the most associated dx with it?
Average age: 40 HTN Dx
45
What is the rule of 10s for pheo?
10% are bilateral 10% are extra-adrenal 10% are malignant
46
What is the classic triad for pheo?
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
What is the most sensitive test to screen for pheo? How does it work?
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
How is a urine fractionated metanephrine and creatinine test done? What makes it diagnostic for pheo?
1. 24hr collection ideally. Diagnostic = 3x UNL for BOTH serum and urine metanephrines.
49
When is CT used for imaging for pheo? When is MRI used instead?
CT is for gen pop. MRI is preferred in children or pregnant women.
50
What is a PET scan used for in pheo workup?
R/o malignancy
51
How is pheo managed?
Adrenal surgeon due to resection need and BP being VERY labile during surgery.
52
What is the main concern of post-pheo removal?
ACTH levels, since high risk of post-surgical adrenal insufficiency. Pheos are generally medullary, so it requires a lot of adrenal gland removal.
53
What is the BP goal for a pheo pt awaiting surgery? What is the preferred antiHTNs and treatment protocol?
<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
What are the 4 main complications associated with pheos?
* HTN Crisis * Cardiac arrhythmias * CVA * MI
55
What qualifies as a functional adrenal adenoma?
Benign neoplasm > 1cm arising from cortex. Must secrete steroids independently from ACTH or RAA system.
56
Name the 3 layers of cortex and medulla and what disease corresponds to an adenoma there.
Zona glomerulosa: primary aldosteronism Zona fasciculata: Cushing's disease Zona reticularis: hyperandrogenism Medulla: Pheo Go Find Rex, Make Good Sex
57
What are the two risk factors for developing an adrenal carcinoma?
* Children living in southern Brazil * Adrenal hyperplasia
58
When are functional adrenal carcinomas more common? Non-functional?
Functional: birth-10y Non-functional: 30-40y | Functional is more common, 60% of adrenal carcinomas.
59
How do non-functional adrenal carcinomas present if they don't secrete steroids?
Malignancy/metastasis S/S * Fever * Weight loss * Abd pain/tenderness * Abd pain * Back pain | Rarely caught prior to metastasis since no definitive symptoms.
60
What would an adrenal carcinoma be like if it was palpable?
Palpable, firm, adherent mass of the abdomen. | Palpating it is rare since obesity is so prevalent.
61
What kind of CT would you order to workup a suspected adrenal carcinoma?
CT of the abdomen and pelvis WITH contrast.
62
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?
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
When do we NOT do a fine-needle aspiration?
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
How do we stage an adrenal carcinoma?
Standard TNM staging.
65
What is the long-acting glucocorticoid?
Dexamethasone
66
What is the short-acting glucocorticoid?
Hydrocortisone
67
What glucocorticoid has a syrup formulation?
Prednisolone | Can give to someone who cannot swallow.
68
How do glucocorticoids help reduce swelling?
Reversing capillary permeability
69
What are the 3 CIs for glucocorticoid use?
Allergy Coadministration with live vaccines Systemic fungal infections
70
When does glucorticoid dosing require tapering down?
If therapy lasts > 7 days
71
What labs should we monitor in someone with daily glucocorticoid use?
* Elevated BG * Na Retention * K loss
72
What are the main endocrine effects of glucocorticoid use?
* Suppression of HPA * Growth failure in children * Insulin resistance * DM/abnormal glucose tolerance test
73
What are the main GI SE of glucocorticoids?
Gastric irritation Peptic ulcers
74
What are the main CV SE of glucocorticoids?
* HTN * CHF in predisposed pts
75
How does glucocorticoid use affect your WBC Diffs?
Leukocytosis Neutrophilia Lymphopenia Eosinopenia Monocytopenia | AKA everything down except neutrophils.
76
What is the MSK concern with long-term glucocorticoid use?
Osteoporosis
77
What is the ophthalmic concern with glucocorticoid use?
Glaucoma
78
What are the main CNS SE of glucocorticoid use?
* Sleep disturbances/insomnia (Main symptom) * Euphoria, depression, mania, psychosis
79
What is the most pertinent electrolyte abnormality that can occur with glucocorticoid use?
HypoK

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

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