CLINICAL CASES - ENDOCRINOLOGY

Question 1

21 year female
Presents acutely unwell for past 48hrs, with vomiting + diarrhoea.
“Unwell” for past few months + weight loss + amenorrhoea.
O/E: dark skin, dehydrated, hypotensive, reduced Na+ and increased K+.

What can be inferred is wrong with this patient (basic - not final diagnosis)>

Answer 1

Adrenal insufficiency.

Primary: Addison’s disease, congenital adrenal hyperplasia, adrenal TB/malignancy.

Secondary: lack of ACTH stimulation, iatrogenic (excess exogenous steroid), pituitary/hypothalamic disorders.

Question 2

21 year female
Presents acutely unwell for past 48hrs, with vomiting + diarrhoea.
“Unwell” for past few months + weight loss + amenorrhoea.
O/E: dark skin, dehydrated, hypotensive, reduced Na+ and increased K+.

Early morning cortisol 75nmol/L increasing to 150nmol/L after synacthen.
Significantly elevated plasma ACTH.
Positive adrenal antibodies.

Diagnosis?

Answer 2

Addison’s disease.

Question 3

21 year female
Presents acutely unwell for past 48hrs, with vomiting + diarrhoea.
“Unwell” for past few months + weight loss + amenorrhoea.
O/E: dark skin, dehydrated, hypotensive, reduced Na+ and increased K+.

Early morning cortisol 75nmol/L increasing to 150nmol/L after synacthen.
Significantly elevated plasma ACTH.
Positive adrenal antibodies.

Treatment?

Answer 3

hydrocortisone 30mg daily in divided doses + fludrocortisone.

Question 4

17 y/o female presents with 3yr history of: central weight gain, acne, amenorrhoea, hypertension, severe osteoporosis and myopathy.

Diagnosis?

Answer 4

Cushing’s syndrome.

Question 5

17 y/o female presents with 3yr history of: central weight gain, acne, amenorrhoea, hypertension, severe osteoporosis and myopathy.
Massive striae covering thighs and abdomen.

mechanism of disease?

Answer 5

Cushing’s syndrome: excess cortisol production.

Question 6

34 y/o male presents with a 1yr history of hypertension and no other significant PMHx. No regular meds.

O/E: BP 168/98mmHg. Normal renal function. Low plasma potassium.

Diagnosis?

Answer 6

Primary aldosteronism - hypertension + hypokalaemia.

Question 7

80 y/o male presents to ARU with 1 stone weight loss, cough and back pain.
- cCa2+ level = 3.4 (2.2-2.6mmol/L).
- Phosphate = 1.4 (0.8-1.5mmol/L).
- Alk. Phos = 272 (30-130U/L).
CXR- LLL collapse.

What investigations would you order?

Answer 7

Spinal x-ray, isotope bone scan, myeloma screen (protein electrophoresis etc).

Question 8

80 y/o male presents to ARU with 1 stone weight loss, cough and back pain.
- cCa2+ level = 3.4 (2.2-2.6mmol/L).
- Phosphate = 1.4 (0.8-1.5mmol/L).
- Alk. Phos = 272 (30-130U/L).
CXR- LLL collapse.

Differential diagnosis?

Answer 8

Malignant hypercalcaemia.

Question 9

33 y/o female presents to bone clinic with incidental hypercalcaemia.
- cCa2+ level = 2.72 (2.2-2.6mmol/L).
- Phosphate = 1.0 (0.8-1.5mmol/L).
- Alk. Phos = 120 (30-130U/L).
PTH = 7.9

Investigations?

Answer 9

Urinary calcium excretion.

Question 10

33 y/o female presents to bone clinic with incidental hypercalcaemia.
- cCa2+ level = 2.72 (2.2-2.6mmol/L).
- Phosphate = 1.0 (0.8-1.5mmol/L).
- Alk. Phos = 120 (30-130U/L).
PTH = 7.9

Urinary calcium excretion = 0.02 mmol/L GFR.

Differential diagnosis?

Answer 10

Familial hypocalciuric hypocalcaemia.

(increased serum calcium and low urinary calcium).