25.1 Biochem: Diagnosis of adrenal disorders Flashcards

1
Q

What disease affect the adrenal cortex and medulla?

A

Cortex: Cushings/Addisons
Medulla: Pheochryomacytoma

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2
Q

Where in the adrenal cortex are mineralcorticoids, glucocorticoids and sex steroids produced?

A

Mineralcorticoids (aldosterone): glomerulosa

Glucocorticoids (cortisol, some androg.): fasiculata

Sex steroids, androg., some cortisol: reticularis

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3
Q

Cortisol is synonymous with….?

A

Hydrocortisone

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4
Q

What are some steps in the steroid synthesis pathway?

A

Cholesterol–> pregnenolone–> progesterone (then either aldosterone, cortisol or T/E)

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5
Q

What are 4 actions of glucocorticoids?

A

Gluconeogenesis
Lipolysis
Mobilisation of AAs
Immunosupression

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6
Q

What can long term increases in cortisol lead to?

A

Weight gain, wasting, hypertension and hyperglycaemia

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7
Q

What are ACTH dependent and independent causes of hypercortisolism?

A

Depend: pituitary adenoma (Cushing’s disease), ectopic ACTH syndrome

Indep (Cushing’s syndrome): adrenal adenoma/carcinoma, nodular hyperplasia, administration of glucocorticoids

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8
Q

What is the most common cause of hypercortisolism?

A

Administration of glucorcorticoids (ACTH-independent)

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9
Q

What is the appearance of a person with Cushing’s?

A
Moon face, adiposity around torso
Hirsutism
Hypertension
(short stature if pre-puberty)
Red striae
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10
Q

How do we investigate Cushings?

A

Dexamethisone supression test and urine free cortisol

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11
Q

What is a condition where we have too little cortisol? What can occur?

A

Addisons, if organism is stressed then death etc. can occur.

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12
Q

What are some causes of adrenocortical insufficiency? (3)

A

Genetic (enzyme or metabolic defect), autoimmune, infectious disease (TB)

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13
Q

What are the electrolyte imbalances that occur in Addisons?

A

Low Na, high K+

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14
Q

What do we see in people with Addisons disease?

A

Sometimes thin, gum pigmentation, often vitiligo

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15
Q

What is CAH due to in most cases?

A

21-hydroxylase deficiency

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16
Q

What are the 3 presentations of CAH in females?

A

Infant: ambiguous genitalia
Child: premature pubic hair, enlarged clitoris
Adolescence: hirsutism and acne

(due to high DHEA)

17
Q

What do we see in males with CAH?

A

Baby, 2-3 weeks: adrenal crisis

Toddler, 2-3 yo: premature sexual development

18
Q

What is aldosterone regulated by?

A

K+

RAS

19
Q

What does aldosterone do?

A

Increases reabsorption of Na/H2O

Increases excretion of K+ from distal tubule

20
Q

What is Conn’s syndrome?

A

Mineralocorticoid excess (tumour that secretes aldosterone=high Na, low K)