Endocrine: Congenital Adrenal Hyperplasia
21α-Hydroxylase Deficiency
Basics
- Most Common Cause of Congenital Adrenal Hyperplasia
- Deficiency:
- Impaired Conversion of Progesterone to 11-Deoxycorticosterone
- Impaired Conversion of 17-Hydroxyprogesterone to 11-Deoxycortisol
- Effects: Mn
- Decreased Mineralocorticoid Production
- Decreased Cortisol Production
- Increased Androgen Production
Presentation
- Salt-Wasting:
- Hyponatremia
- Hyperkalemia
- Increased Renin
- Hypocortisolism:
- Nausea & Vomiting
- Diarrhea
- Adrenal Crisis
- Hypovolemia & Shock
- Virilization:
- Precocious Puberty
- Masculinization
- Ambiguous Genitalia in Females
- Clitoral Enlargement
- Labial Fusion
- Infertility
- Hirsutism
- Acne
Diagnosis
- Diagnosis: Elevated Plasma 17-Hydroxyprogesterone & Low Cortisol
- May Need ACTH Stimulation Test if Equivocal
Treatment
- Primary Treatment: Corticosteroids & Mineralocorticoids (Fludrocortisone)
- May Require Genitoplasty Reconstructive Surgery
Adrenal Hormone Synthesis 1
11β-Hydroxylase Deficiency
Basics
- Deficiency:
- Impaired Conversion of 11-Deoxycorticosterone to Corticosterone
- Impaired Conversion of 11-Deoxycortisol to Cortisol
- Effects: Mn
- Increased 11-Deoxycorticosterone Acts as a Strong Mineralocorticoid Despite Decreased Aldosterone Production
- Decreased Cortisol Production
- Increased Androgen Production
Presentation
- Salt-Saving:
- Hypertension
- Hypokalemia
- Hypocortisolism:
- Nausea & Vomiting
- Diarrhea
- Adrenal Crisis
- Hypovolemia & Shock
- Virilization:
- Precocious Puberty
- Masculinization
- Ambiguous Genitalia in Females
- Clitoral Enlargement
- Labial Fusion
- Infertility
- Hirsutism
- Acne
Diagnosis
- Diagnosis: Elevated Plasma 11-Deoxycortisol & Low Cortisol
Treatment
- Primary Treatment: Corticosteroids
- Mineralocorticoid Receptor Antagonists (Spironolactone & Eplerenone) If Needed for Hypertension
- May Require Genitoplasty Reconstructive Surgery
Adrenal Hormone Synthesis 1
17α-Hydroxylase Deficiency
Basics
- Deficiency:
- Impaired Conversion of Pregnenolone to 17-Hydroxypregnenolone
- Impaired Conversion of Progesterone to 17-Hydroxyprogesterone
- Effects: Mn
- Increased Mineralocorticoid Production
- Decreased Cortisol Production
- Decreased Androgen Production
Presentation
- Salt-Saving:
- Hypertension
- Hypokalemia
- Hypocortisolism:
- Nausea & Vomiting
- Diarrhea
- Adrenal Crisis
- Hypovolemia & Shock
- Virilization:
- Primary Amenorrhea
- Absence of Secondary Sexual Characteristics
- Minimal Body Hair
- Ambiguous Genitalia
Diagnosis
- Diagnosis: Elevated Plasma 11-Deoxycorticosterone & Corticosterone with Low Cortisol & Androgens
Treatment
- Primary Treatment: Corticosteroids
- Mineralocorticoid Receptor Antagonists (Spironolactone & Eplerenone) If Needed for Hypertension
- Sex Hormone Supplementation (Estrogen or Testosterone)
- May Require Genitoplasty Reconstructive Surgery
Adrenal Hormone Synthesis 1
Mnemonics
Effects of Congenital Adrenal Hyperplasia
- To Remember the Effects: Write “A-T”; Then Write the Associated Number Underneath
- A-Aldosterone; T-Testosterone
- A Before T: “BP Goes Up Before Having Sex”
- 1 (Up Arrow) Increases & Other Numbers Decrease
References
- Colo M. Wikimedia Commons. (License: CC BY-SA-3.0)
