2: Steroid Biosynthesis Flashcards

1
Q

Mineralocorticoid receptors (MRs)

A

Group of nuclear receptors (ligands bind in nucleus)

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2
Q

Five steroid hormones that bind MRs and which ones have the highest binding efficacy

A
  1. Aldosterone: highest
  2. 11-deoxycorticosterone: very high
  3. Testosterone, cortisol, cortisone
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3
Q

What is common about all hormones that bind MRs

A

Increase Na retention -> cause hypertension

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4
Q

Reminder of the HPA axis

A

CRH from hypothalamus -> ACTH from anterior pituitary -> adrenal cortex

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5
Q

What can mutations in 17,20 lyase cause? How?

A

Prostate cancer; major sex hormones are not made -> steroid synthesis shifts towards corticosterone -> excess corticosterone causes adrenal hyperplasia

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6
Q

Where is 25-hydroxycholecalciferol exclusively produced?

A

Liver

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7
Q

Aldosterone function

A

Balances Na and K in blood

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8
Q

Conn Syndrome / Primary Aldosteronism

A

Adrenal glands produce too much aldosterone -> loss of K + retention of Na

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9
Q

What does loss of K and retention of Na cause in Conn Syndrome?

A

Body holds too much water -> HTN

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10
Q

Mechanism of adrenal hyperplasia

A

Increased production from adrenal gland of cortisol precursors and androgens

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11
Q

What two enzymes can be mutated in adrenal hyperplasia?

A

21-hydroxylase, 11B-hydroxylase

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12
Q

Mutation in 21-hydroxylase causes increase in which hormone?

A

Progesterone

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13
Q

Mutation in 21-hydroxylase causes decrease in which four hormones?

A

Deoxycorticosterone, 11-deoxycortisol, cortisol, aldosterone

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14
Q

Mutation in 11B-hydroxylase causes increase in which hormone?

A

Deoxycorticosterone

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15
Q

Mutation in 11B-hydroxylase causes decrease in which three hormones?

A

Corticosterone, cortisol, aldosterone

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16
Q

Presentation of adrenal hyperplasia

A
  1. Hypertension
  2. Life-threatening sinus/pulmonary infections
  3. Orthostatic syncope, short stature, severe acne
  4. In females: hirsutism, general oligomenorrhea, infertility
17
Q

Two ways to diagnose adrenal hyperplasia in a fetus?

A
  1. Excess cortisol precursors in amniotic fluid

2. HLA haplotyping

18
Q

Treatment of adrenal hyperplasia

A

Carefully monitored hormone replacement therapy