Congenital Adrenal Hyperplasia (CAH) : Definition, Causes, Pathophysiology, Symptoms, Diagnosis, Management, & PPT
Definition
- Congenital Adrenal Hyperplasia (CAH) is a group of disorders characterized by deficiency of enzymes involved in adrenal cortical hormone biosynthesis.
- Inheritance: Autosomal recessive
Types
- 21-hydroxylase deficiency (most common type; 90% cases)
- 11β-hydroxylase deficiency (2nd most common type)
- 17α-hydroxylase deficiency
- 3-β-hydroxysteroid dehydrogenase deficiency
- Aldosterone synthase deficiency
Clinical Features
- Hypoglycemia: All type
- Hyperpigmentation: All type
- Either excess or deficiency of mineralocorticoids
- Salt retaining (excess of mineralocorticoids) Salt losing (deficiency of mineralocorticoids) Hypernatremia Hyponatremia Hypokalemia Hyperkalemia Hypertension Shock
- External genitalia
Normal
or
Ambiguous
⇓
Pseudohermaphroditism
Investigations
A. Screening tests
- 21-hydroxylase deficiency ⇒ Serum 17-hydroxy progesterone ↑
- 11β-hydroxylase deficiency ⇒ Serum 11-deoxy cortisol ↑
- Aldosterone synthase deficiency ⇒ Serum aldosterone level ↑
B. Definitive tests
- ACTH stimulation test
Treatment
Steroid
+
If salt losing: another steroid added
If ambiguous genitalia: Surgery + Hormonal therapy
In utero treatment
- Drug of choice for Prenatal treatment: Steroid
If previous baby or sibling with congenital adrenal hyperplasia
Start steroid as soon as pregnancy is confirmed
↓
If male child in uterus: Stop steroid after 10-12 weeks
If female child in uterus: Continue steroid till termination of pregnancy
⇓
Investigate post birth
Approach to solve Multiple Choice Question’s on CAH
Suspect: Any 2 out of 3 are present
- Hypoglycemia Genitalia abnormal Excess or deficiency of mineralocorticoids
⇓
CAH suspected
↓
1st step: Type pf presentation
⇓
Salt losing
- 21-hydroxylase deficiency 3-β-hydroxysteroid dehydrogenase deficiency Aldosterone synthase deficiency
Salt retaining
- 11β-hydroxylase deficiency 17α-hydroxylase deficiency
2nd step: Genitalia
⇓
Male (XY)
Normal
- 21-hydroxylase deficiency11β-hydroxylase deficiencyAldosterone synthase deficiency
Ambiguous
- 17α-hydroxylase deficiency3-β-hydroxysteroid dehydrogenase deficiency
Female (XX)
Normal
- 17α-hydroxylase deficiencyAldosterone synthase deficiency
Ambiguous
- 21-hydroxylase deficiency 11β-hydroxylase deficiency 3-β-hydroxysteroid dehydrogenase deficiency
Disclaimer: DoctorAlerts is an educational platform. It does not provide medical advice, diagnosis, or treatment. We neither promote nor sell any type of prescription drug or supplement.