Miscellaneous

Question 1

Cushing Syndrome

Answer 1

Persistent excessive corticosteroids
Appearance
- Moon-like facies, striae, easy bruising, resistant hypertension, osteoporosis, dorsal fat pad, proximal myopathy
- Symptoms
- Decreased libido, menstrual changes, lethargy, depression
Test
- Late-night salivary cortisol x 2
- 24 hour urinary free cortisol excretion x 2
- Overnight 1mg Dexamethasone suppression test

Question 2

Diabetes Insipidus

Answer 2

Impaired secretion of vasopressin (Anti-diuretic hormone)
Symptoms - Polyuria, nocturia, polydipsia
Causes - Post-operative for hypothalamic pituitary operation , tumours, infections, infiltrations, anorexia nervosa, trauma, post-supraventricular tachycardia. Psychogenic polydypsia, idiopathic
Treatment - Desmopressin BD

Question 2

Syndrome of secretion of inappropriate anti-diuretic hormone

Answer 2

Causes - Cancer (Lung, lymphomas, kidney, pancreas), Pulmonary disorders, intracranial lesions, carbamazepine, antipsychotic agents, Hypothyroidism, adrenal insufficiency
Signs- Hyponatraemia, Hypoosmolality, Urine concentration. Water retention

Treatment - Treat underlying cause, fluid restriction to 800mL/day

Question 3

Post-partum Thyroid dysfunction

Answer 3

Initial hyperthyroidism (release of preformed thyroid hormone from damaged thyroid follicles) followed by hypothyroidism.
- Usually mild and transient with reversion to euthyroid status within 1 year post-partum.
- Anti-TPO associated with more severe disease. Can consider short-term thyroxine replacement in hypothyroid stage.
- Increases risk of developing hypothyroidism in next 10 years

Question 4

Carcinoid Syndrome

Answer 4

Hormone secretion of carcinoid cells

Most patients are asymptomatic.

Features
- Skin flushing
- Diarrhoea
- Valvular heart disease
- Wheezing, telangiectasia, hypotension, cyanosis

Site of tumours
- Appendix, ileum, stomach, bronchi.

Investigation
- 24H urinary excretion of 5-HIAA (End-product of serotonin metabolism)

Question 5

Klinefelter Syndrome

Answer 5

• 47XXY genetic mutation
• 1:1000 men
• 25% ever learn of diagnosis.
• Most common cause of androgen deficiency in males. Impairs testosterone production and spermatogenesis.

Clinical picture
- Taller than average height, reduced facial hair, reduced body hair, gynaecomastia, feminine fat distribution, osteoporosis, testicular atrophy, varicose veins.
- Note: Testes volume < 4mL is the only consistent feature of klinefelter syndrome

Investigations
Diagnosis
- 2x morning testosterone
- LH, FSH will both be elevated from mid-puberty
- Karyotype 47XXY

Monitoring of complications
- DEXA (Osteoporosis)
- Semen analysis (?Oligo or azoospermia)
- TFT (Hypothyroidism)
- fasting BSL (Diabetes)

Rx
- Testosterone replacement therapy.