Rare endocrine cases

Question 1

What is acromegaly?

Answer 1

Acromegaly is the hypersecretion of pituitary growth hormone, usually as a result of a pituitary tumour, which leads to an abnormal increase in size of the skeletal extremities.

Question 2

What is the cause of acromegaly?

Answer 2

· Rare – approx 3-4 people in every million
· Most often caused by a benign pituitary tumour, but can in rare cases be caused by a non-endocrine tumour secreting GH
· Further divided into micro and macroadenomas (macros most common) = Acro – extremities, mega – large
Some genetic link

Question 3

What are the symptoms of acromegaly?

Answer 3

· Onset is often slow and insidious, most often diagnosed in middle age. Men and women are equally affected.
· Growth of hands and feet
· Change in facial features – widening bridge of the nose, thick lips, protruding jaw and brow, macroglossia, teeth separation

· Headaches and visual disturbance due to tumor
· Deeper voice
· Skin tags, excessive sweating. Mild hirsutism in women.
· Joint pain and carpal tunnel syndrome.
· Hypertension and diabetes
Organomegaly (liver/spleen/goiter)

Question 4

What investigations are conducted if suspected acromegaly?

Answer 4

· Routine bloods – glucose, lipids, bone profile (may all be raised)
· IGF-1 excludes acromegaly if normal
· OGTT to confirm raised IGF-1
· Check thryoid, prolactin, gonadal and adrenal hormones
· MRI scan to assess for tumour
· CT if non-endocrine tumour suspected
· Cardiac workup: ECG and echo
· Thyroid ultrasound (inc risk of Ca)

Question 5

What are the treatment options for acromegaly?

Answer 5

· Nothing is 100% so normally a combination
· Endoscopic trans-sphenoidal surgery first line
· Radiotherapy as adjuvant
· Somatostatin analogues first-line drug treatment (ie octreotide)
Dopamine agonists such as bromocriptine sometimes used

Question 6

What is diabetes insipidus?

Answer 6

Diabetes Insipidus (DI) is a disorder caused by hyposecretion or insensitivity to ADH which leads to polydipsia, polyuria and large amounts of dilute urine.

Question 7

What is cranial diabetes insipidus?

Answer 7

caused by any condition which impairs the production, transportation, or release of ADH which in turn reduces the process involved in the concentration of urine leading to polyuria and polydipsia.

Question 8

What is nephrogenic diabetes insipidus?

Answer 8

decreased inability to concentrate urine due to conditions within the renal collecting duct causing resistance to ADH. There are also two minor forms of DI.

Question 9

What are the causes of diabetes inspidus?

Answer 9

· Idiopathic
· Tumour of the brain- craniopharyngioma, germinoma, lymphoma
· Intracranial surgery
· Head injury
· Infection- encephalitis, meningitis
· Vascular disorder- aneurysms, sickle cell disease
Radiotherapy

Question 10

How is diabetes insipidus investigated?

Answer 10

Record 24 hr urine = looking for >3L within 24hrs

Question 11

What are the management options for diabetes insipidus?

Answer 11

· Oral fluids encouraged
· Metabolic abnormalities are corrected if present
· Medication review for possible causes/worsening drugs
· If symptoms are mild (<4L urine per day) intervention is not usually advised
· Moderate cases – treated with Desmopressin.
· Can consider combination treatment involving thiazide diuretic and NSAID
In severe cases may require intermittent catheterization

Question 12

What is an androgen-secreting tumor?

Answer 12

These tumors make too much testosterone and can cause a virilizing (i.e. masculinizing) syndrome.

Question 13

What are the symptoms in women with an androgen-secreting tumour?

Answer 13

Women with tumors that make androgens (male hormones) may notice excessive facial and body hair growth, a receding hairline, acne, irregular menstrual periods, deepening of their voice (hirsutism) and ambiguous genitalia.

Question 14

How is the androgen-secreting tumour localized?

Answer 14

imaging- MRI/CAT scan to find the location of the tumour or venous sampling: surgeon/radiologist draws blood out directly from the veins draining both adrenal glands and ovaries = determine which organ is making too much hormone

Question 15

What is the treatment option for an androgen-secreting tumour?

Answer 15

remove tumour- open adrenalectomy with lymph node dissection (these tumours have a high risk of spreading to lymph nodes.

• Drugs that destroy adrenal tissue: mitotane or ketoconazole

Young patients with complete removal of the tumour have a better prognosis than older patients with larger tumours.

Question 16

What is phaeochromocytoma?

Answer 16

A phaeochromocytoma is a rare, usually benign tumor that develops in an adrenal gland. However, 1 in 10 pheochromocytomas are malignant.

Question 17

What does a phaeochromocytoma release?

Answer 17

Hormones that may cause high blood pressure, headache, sweating, and symptoms of a panic attack. If a pheochromocytoma isn’t treated, severe or life-threatening damage to other body systems can result.

Question 18

What are the symptoms of a pheochromocytomas?

Answer 18

• High blood pressure
  
  • Headache
  • Heavy sweating
  • Rapid heartbeat
  • Tremors
  • Pallor
  • Shortness of breath
    Panic attack-type symptoms

Question 19

What are the complications of a pheochromocytomas?

Answer 19

High blood pressure can damage organs, particularly tissues of the heart and blood vessel (cardiovascular) system, brain and kidneys. This damage can cause several critical conditions, including:

* Heart disease
* Stroke
* Kidney failure Problems with the nerves of the eye

Question 20

How is pheochromocytoma diagnosed?

Answer 20

A diagnosis of pheochromocytoma should be suspected when the patient simultaneously presents with hypertension and the classic triad of heart palpitations, headaches, and profuse sweating.

Question 21

What investigations are conducted with a suspected pheochromocytoma?

Answer 21

• Plasma + 3x24hr urinary metadrenaline and normetadrenaline
  
  • Abdominal CT or MRI (to detect adrenal tumours)

Question 22

What are the management options of a