Adrenal Disease - Congenital Adrenal Hyperplasia

Question 1

What is CAH?

Answer 1

Congenital Adrenal Hyperplasia - an inherited Autosomal Recessive condition resulting in underproduction of Cortisol and Aldosterone and overproduction of Androgens from birth.

Question 2

Aetiology of CAH (3).

Answer 2

1. Mainly - Congenital Deficiency of 21-Hydroxylase Enzyme.
2. Congenital Deficiency of 11-B-Hydroxylase.
3. Congenital Deficiency of 17-Hydroxylase Enzyme.

Question 3

Pathophysiology of CAH (5).

Answer 3

1. 21-Hydroxylase converts Progesterone into Aldosterone and Cortisol and Testosterone (but Testosterone can be converted otherwise too).
2. Deficiency of this enzyme.
3. Low Aldosterone, Low Cortisol.
4. Negative Feedback = High ACTH.
5. Extra Progesterone = Adrenal Androgens.

Question 4

Aspects of Clinical Presentation in Mild Cases (2).

Answer 4

1. Present = Childhood/After Puberty.

2. Related to High Androgen Levels.

Question 5

Clinical Features of Mild CAH in Male Patients (6).

Answer 5

1. Tall for Age.
2. Deep Voice.
3. Large Penis.
4. Small Testicles.
5. Early Puberty.
6. Skin Hyperpigmentation.

Question 6

Clinical Features of Mild CAH in Female Patients (6).

Answer 6

1. Tall for Age.
2. Facial Hair.
3. Absent Periods.
4. Deep Voice.
5. Early Puberty.
6. Skin Hyperpigmentation.

Question 7

Clinical Features of Severe CAH in All Patients (2).

Answer 7

1. Birth of Female = Virilised/Ambiguous Genitalia and Enlarged Clitoris (High Testosterone).
2. SEVERE = Hyponatraemia, Hyperkalaemia and Hypoglycaemia at Birth (poor feeding, vomiting, dehydration and arrhythmias).

Question 8

Management of CAH (4).

Answer 8

1. Paediatric Endocrinology Follow-Up.
2. Cortisol Replacement - Hydrocortisone.
3. Aldosterone Replacement - Fludrocortisone.
4. Virlised Genitalia - Corrective Surgery.