Adrenal Disorders - Part 2 - Exam 3 Flashcards
What are the physiology effects of aldosterone?
aldosterone tells kidney to retain Na, water follows, blood volume and pressure increases and K is excreted
What is the physiological effects of cortisol?
decreases inflammation
increased gluconeogensis
decreases lymphatic tissue, decreases lymphocytes
dehydroepiandrosterone is ???
the precursor to sex steroids in the adrenal glands
______ autosomal recessive disorder involving a steroidogenic enzymatic block (defective or absent enzyme), leading to a deficiency in cortisol
Congenital Adrenal Hyperplasia (CAH)
Congenital Adrenal Hyperplasia (CAH) depending on the exact enzymatic block there will also be _______ and/or _____
either excessive or deficient aldosterone and/or androgen
What is the MC enzyme deficiency in Congenital Adrenal Hyperplasia (CAH)
21-hydroxylase (CYP21A)
What are the 3 pathophysiologcal presentations of CAH? What is the additional hormone in play?
salt wasting CAH : aldosterone deficiency
virilizing CAH: androgen excess
nonclassic CAH - less severe
CYP17A1, 3 beta-HSD (HSD3B2), CYP11B1, P450 oxidoreductase. What are these involved in?
other enzymes that could be the cause of Congenital Adrenal Hyperplasia (CAH)
What do you think happens to ACTH in Congenital Adrenal Hyperplasia?
ACTH will increase because no cortisol is being produced to shut off the negative feedback loop
What happens to androgens in Congenital Adrenal Hyperplasia?
increase in ACTH and increase in androgen
DHEA is a precursor for _____ and _____. DHEA produces ____ of estrogen before and ____ of estrogen after menopause.¹
estrogen and testosterone
75%
100%
genital atypia: clitoral enlargement, labial fusion, formation of a urogenital sinus, grossly normal appearing genitalia with hyperpigmented scrotum, enlarged phallus
vomiting, dehydration, hyponatremia, hyperkalemia, hypotensive shock
What am I?
Classic “salt-wasting” virilizing adrenal hyperplasia of CAH 21-hydroxylase deficiency
milder genital atypia presentations
precocious puberty (puberty before 9 years old), accelerated growth
early skeletal maturation
pubic hair, adult body odor
What am I?
Simple virilizing adrenal hyperplasia of CAH with 21-hydroxylase deficiency
_____ is noticed during adolescent/early adulthood - oligomenorrhea, hirsutism, and/or infertility
Nonclassic adrenal hyperplasia
ambiguous genitalia or female genitalia in Congenital Adrenal Hyperplasia results from ????
What three enzymes are involved?
results from an inadequate testosterone production in the 1st trimester of pregnancy due to complete androgenic enzymatic block
StAR protein
HSD3B2
CYP17A1
**In CAH _____ and _______ are elevated in 21-hydroxylase deficiency
serum 17-hydroxyprogesterone (CYP17) is elevated
What is the workup for CAH?
-newborn screening: 21-hydroxylase deficiency (CYP21A2)
-Ambiguous genitalia: immediate hormonal, genetic and chromosomal testing
-enzyme metabolites: serum 17-hydroxyprogesterone (CYP17) and serum DHEA
-CMP
-Consider imaging (NOT necessary for dx but can help further investigate)
In CAH _____ is used to rule out adrenal hemorrhage. When is it used?
_____ is used when assessing organic anomalies associated with ambiguous genitalia
CT abdomen
used only in patients without ambiguous genitalia
pelvic US
What is the treatment goal for CAH?
provide the smallest dose of gluco- and mineralocorticoid that will adequately suppress excess androgen precursors and produce normalization of growth velocity and skeletal maturation
What is likely to occur with high doses of glucocorticoids?
What is likely to occur with high doses of mineralocorticoids?
Cushings
HTN/hypernatremia/hypokalemia
What is the treatment for CAH? What do you need to monitor for? What are adjustments based on?
Hydrocortisone, dividing TID and Fludrocortisone 0.05 - 0.15 mg daily
monitor for normalization of serum 17-hydroxyprogesterone
adjust dose to maintain normal growth rate and skeletal maturation
When using Fludrocortisone 0.05 - 0.15 mg daily in CAH pts, what do you need to monitor?
monitor BP and plasma renin activity
Name some things that inadequate CAH control leads to?
precocious puberty (males)
masculinity (females)
rapid skeletal maturation resulting in tall children → short adults
adrenal crisis
psychosocial disturbances
______ A condition resulting from hypersecretion of aldosterone that doesn’t suppress with sodium loading
Primary hyperaldosteronism
What is Conn syndrome?
A benign growth in an adrenal gland (aldosterone-producing adenoma)
associated with primary hyperaldosteronism
What are the causes of primary hyperaldosteronism?
bilateral idiopathic adrenal hyperplasia - 60-70%
unilateral aldosterone-producing tumor (either benign or maligant)
refractory hypertension
headaches (HA)
muscle weakness
fatigue
polyuria
polydipsia
HA
paresthesias
tetany
What am I?
Primary Hyperaldosteronism
What will the BMP look like in a pt with primary hyperaldosteronism?
hypernatremia, (+/-)hypokalemia¹
increased CO2² (reflective of HCO3):metabolic alkalosis
May also be normal
____ is the initial diagnostic for primary hyperaldosteronism.
Plasma Renin Activity (PRA) and Aldosterone Concentration (PAC)
PRA: Low
PAC: Elevated
What is the Plasma aldosterone/renin ratio used in? What is normal?
primary hyperaldosteronism
normal is < 10
ratio > 20-25 ( 95% sensitivity and 75% specificity for primary aldosteronism)
PRA: Low
PAC: Elevated