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Endocrinology > Adrenal Disease > Flashcards

Adrenal Disease Flashcards

1
Q

What is the HPA axis and hormones involved for adrenal function

A

Hypothalamus - corticotropin releasing hormone

Anterior pituitary - adrenocorticotropin hormone

Adrenal cortex - aldosterone, cortisol, androgens (salty, sweet, sex)

*medulla - catecholamine production

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2
Q

What is adrenal insufficiency

What are the most common primary and secondary causes of AI

A

Life-threatening deficiency of glucocorticoid +/- mineralocorticoid

Addison’s disease

Primary - CAH and autoimmune, other dysgenesis

Secondary - withdrawal of therapeutic glucocorticoids

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3
Q

What are causes of primary adrenal insufficiency (5)

A

Damage to gland - Hemorrhage (Friedrichson-Waterhouse), Autoimmune (Addison’s disease, AIRE mutation - autoimmune regulator gene), Infection (TB, fungal, HIV), Drugs (ketoconazole)

Abnormal development - X-linked adrenal hypoplasia congenital (DAX1), adrenal hypoplasia (SF-1 mutation)

Steroidogenesis disorders - CAH (21 hydroxylase deficiency, 11 beta hydroxylase deficiency)

Peroxisomal defects - adrenoleukodystrophy, Zellweger syndrome

Unresponsive to ACTH - Allgrove syndrome

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4
Q

What are causes of secondary (pituitary) or tertiary (hypothalamic) adrenal insufficiency (3 categories)

A

Congenital - midline defects (septo-optic dysplasia), idiopathic, mutations (PROP-1, PIT-1, T-Pit, POMC)

Acquired - tumor, hemorrhage, surgery, cranial radiation

Infiltrative - hemochromatosis, sarcoidosis, Langerhans histiocytosis

*tertiary hypothalamic suppression - after cessation of supraphysiologic glucocorticoids

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5
Q

What are supraphysiologic doses of glucocorticoids (in hydrocort, prednisone, dexamethasone dosing)?

A

Baseline production of glucocorticoid

Hydrocortisone - 6-8mg/m^2/day

Prednisone - 1-1.5 mg/m^2/day

Dexamethasone 0.2-0.3mg/m^2/day

*approximately factor of 5

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6
Q

How do you calculate body surface area

A

SQAURE ROOT OF: (ht x wt)/3600

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7
Q

What two labs do you want to do on an undervirilized male?

A

Karyotype

Testosterone

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8
Q

Two reasons for low testosterone in undervirilized male?

A

testosterone synthesis defect

Defective testicular differentiation

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9
Q

What are two lab tests you want in a hypervirilized female?

A

karyotype

17-OHP

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10
Q

Two diseases causing normal to high testosterone in undervirilized males?

A

androgen receptor defects

5 alpha reductase deficiency

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11
Q

Name 3 things on the differential for a hypervirilized female with normal 17-OHP but high testosterone?

A

Aromatase deficiency (can’t convert testo to estrogen)

maternal androgens

tumour

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12
Q

What is the inheritance pattern of CAH

A

Autosomal recessive

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13
Q

What is congenital adrenal hyperplasia, and what is the most common cause

A

Enzymatic defect in steroidogenic pathway to cortisol

90-95% 21-hydroxylase mutation (elevated 17-OHP)

75% are classic salt wasting

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14
Q

Why do you get virilization with CAH (aka what is the pathway to create cortisol)

A

Pathway from cholesterol –> pregnenolone –> progesterone –> 17-OHP

Without 21-hydroxylase, cannot get from to aldosterone or cortisol

Shunting from 17-OHP to production of testosterone

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15
Q

What are the androgen related clinical findings in CAH

A
  • genital ambiguity in females (clitoromegaly, fusion of labioscrotal folds, penile urethra, normal internal organs)
  • subtle virilization in males
  • early axillary and pubic hair
  • acne
  • body odor
  • accelerated growth, but compromised final height from early fusion of growth plates
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16
Q

What are the salt-wasting features of CAH

A

Aldosterone deficiency - presents in first few weeks as adrenal crisis

  • hyperpigmentation of skin creases and genitalia
  • initial demand of frequent feeding (dehydration vs. salt craving)
  • nonspecific unwell infant findings, including dehydration, hypothermia, hypotension, vomiting
  • HYPOnatremia, HYPOglycemia
  • HYPERkalemia
  • metabolic acidosis
17
Q

What investigations (labs/imaging) do you do to test for CAH?

*same as ambiguous genitalia

A

lytes, glucose, CBG

cortisol

ACTH and stim test

17-OHP

androstenedione

renin activity

karyotype

pelvic ultrasound *remember females will have female internal organs

18
Q

How do you do an ACTH stim test

A

Cosyntropin (synthetic ACTH) 0.25mg

Prior and 60 min after - 17-OHP, cortisol, DHEA, androstenedione, 11-deoxycortisol, deoxycorticosterone, 17-hydroxypregnenolone

19
Q

How do you manage an adrenal crisis

A

Fluids

Stress dose hydrocortisone 100mg/m^2/day

Treat electrolyte abnormalities

20
Q

Which two steroid formulations have mineralocorticoid effect?

A

hydrocortisone

prednisone

*dex does not have any mineralocorticoid

21
Q

What is the long-term management of CAH

A

Cortisol replacement - hydrocortisone 10-20mg/m^2/day divided TID (short half life and minimal growth suppression)

Monitor for Cushing syndrome

Monitor for growth - bone age

Stress dose steroids during illness

Fludrocortisone replacement 0.1-0.2mg with NaCl supplements

Monitor renin activity levels

Plastic surgery

22
Q

What is the long-term outcome for CAH (growth, fertility, cognitive)

A

Growth - tall in childhood but short in adulthood from premature fusion of growth plates - may be able to supplement growth hormone/block puberty for increased height

Fertility - reduced in both males and females

Cognition - normal

23
Q

What is Addison’s disease

A

Primary adrenal insufficiency

24
Q

What are the clinical manifestations of Addison’s disease

A

Adrenal crisis

Salt-wasting

Fatigue, weakness, loss of appetite, poor weight gain

Gastro-like illness

“muddy” hyperpigmentation

25
Q

What are the lab findings in Addison’s disease

A

Adrenal crisis - HYPOnatremia, HYPOglycemia, HYPERkalemia)

Elevated renin and ACTH

Low early AM cortisol

26
Q

What are the autoimmune polyglandular syndromes (2)

A

APS 1 - AIRE gene mutations

  • mucocutaneous candidiasis
  • hypoparathyroidism
  • Addison’s disease

APS 2 - Polygenic

  • autoimmune thyroid disease
  • Addison’s disease
  • T1DM
27
Q

What the difference between Cushing Syndrome and Cushing Disease?

A

Syndrome - clinical findings from excess glucocorticoids

  • hypothalamic, pituitary, primary adrenal, ectopic ACTH, iatrogenic
  • under 5y - most common adrenal - McCune Albright Disease

Disease - excess pituitary ACTH production

  • pituitary adenoma
  • most common >5

Endocrinology (3 decks)

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