Endocrinology II Flashcards
A 69-year-old lady presents to her general practitioner with a two month history of lethargy, abdominal pain, night sweats and weight loss.
On examination she is tender over the epigastrium and is noticed to have generalised lymphadenopathy. Liver function tests are normal.
She was referred to have an ultrasound of the abdomen, which revealed gross splenomegaly, together with free fluid in the abdomen and pelvis. There has been no previous history of trauma to her abdomen.
There is no history of foreign travel.
It was decided to perform a laparotomy to treat her condition which revealed an enlarged spleen with several capsular tears and rupture.
The symptoms and signs in this patient are clearly suggestive of non-Hodgkin’s lymphoma, which is a malignancy involving the lymph nodes. It is characterised by the spread of disease from one lymph node group to another and by the development of systemic symptoms with advanced disease.
The common clinical presentations include painless, swollen lymph nodes especially in the neck, axilla and the thigh. There may be itchiness, fever with night sweats, coughs and chest pain, weakness and unexplained loss of body weight.
If the Non-Hodgkin’s lymphoma affects the tissues in the abdomen the patient may present with abdominal pain, hepatomegaly or splenomegaly, decreased appetite, nausea and vomiting.
A 66-year-old female is admitted with a six hour history of episodic left sided loin pain, which radiates to the groin. She is apyrexial with a blood pressure of 145/90 mmHg and is slightly tender in the right flank.
This case has renal colic which in this age group may be associated with hyperparathyroidism and hence hypercalcaemia and hypercalciuria.
A 55-year-old man is routinely admitted for repair of an inguinal hernia. In his medical history he has hypertension for which he takes bendroflumethiazide. Examination reveals a blood pressure of 158/92 mmHg but is otherwise unremarkable except for his right sided indirect inguinal hernia. However, his ECG printout indicates that he has prolonged QT interval and U waves.
This case has treated hypertension but his ECG shows QT prolongation and U waves. These are typical of hypokalaemia. Hypokalaemia and hypertension may occur in association with Conn’s syndrome which may be exacerbated by diuretic therapy such as bendroflumethiazide.
A 72-year-old Asian male presents with a three month history of weakness and generalised aches. His past history includes hypertension for which he takes amlodipine and he also takes Losec for gastro-oesophageal reflux. On examination he has a body mass index of 22 kg/m2 and has obvious proximal muscle weakness, some tenderness over the iliac crests but no other abnormalities.
This case of an elderly Asian male with weakness and generalised aches and pains associated with a proximal myopathy suggests osteomalacia - hypocalcaemia.
A 57-year-old male with diabetes requests sildenafil for erectile dysfunction.
Which of the following are contraindicated with sildenafil?
Sildenafil is contraindicated if the patient is taking nitrates, or nitrate derivatives (nicorandil).
We are informed on the prescribing information that if the patient takes nitrates then they should be stopped for the period during which sildenafil is used.
A 56-year-old female presents with a three month history of weight gain and tiredness. Examination reveals a diffuse enlargement of the thyroid with no lymphadenopathy. Her thyroid function tests reveal a T4 of 8.2 nmol/L and a TSH of 25 mU/L.
T4 10-23 nmol/L
TSH 0.5-4 mU/L
Calcium 2.2-2.5 mmol/L
PTH 3-5.5 pmol/L
Hashimoto’s thyroiditis
This woman has hypothyroidism and the most likely explanation is Hashimoto’s thyroiditis, an autoimmune destruction of the thyroid associated with positive thyroid microsomal autoantibodies.
A 76-year-old female presents with a swelling in the neck and a dysphonia. Examination reveals generally enlarged hard thyroid mass. A craggy, right cervical lymph node is palpable. She has a soft voice. Thyroid function tests show a T4 of 12.8 nmol/L and a TSH of 2 mU/L.
T4 10-23 nmol/L
TSH 0.5-4 mU/L
Calcium 2.2-2.5 mmol/L
PTH 3-5.5 pmol/L
Anaplastic thyroid cancer
This elderly patient has features of a thyroid cancer associated with recurrent laryngeal involvement and would suggest anaplastic thyroid cancer.
A 45-year-old male who underwent bilateral adrenalectomy for phaeochromocytoma presents with a neck swelling. Examination reveals an enlarged left lobe of the thyroid with no palpable lymphadenopathy. Thyroid function tests show a T4 of 15.2 nmol/L and a TSH of 2.2 mU/L.
T4 10-23 nmol/L
TSH 0.5-4 mU/L
Calcium 2.2-2.5 mmol/L
PTH 3-5.5 pmol/L
Medullary carcinoma of the thyroid
This case of a patient with bilateral phaeochromocytomas and a thyroid swelling would suggest medullary thyroid cancer associated with MEN type 2.
A 58-year-old male presents with weight loss and palpitations. Examination reveals him to appear clinically euthyroid with an asymmetrical enlargement of the thyroid and no lymphadenopathy. His thyroid function tests show a T4 of 20.8 nmol/L and a TSH of 0.02 mU/L.
T4 10-23 nmol/L
TSH 0.5-4 mU/L
Calcium 2.2-2.5 mmol/L
PTH 3-5.5 pmol/L
Multinodular goitre
This patient with thyroid enlargement and subclinical hyperthyroidism (low TSH normal T4) is likely to have a toxic multinodular goitre.
A 74-year-old male presents with a two month history of weight loss, thirst and nocturia. Examination reveals no specific abnormality. His thyroid function tests show a T4 of 13.1 nmol/L and TSH of 1.5 mU/L, with a calcium of 3.5 mmol/L and a PTH of 128 pmol/L.
T4 10-23 nmol/L
TSH 0.5-4 mU/L
Calcium 2.2-2.5 mmol/L
PTH 3-5.5 pmol/L
Parathyroid cancer
The elderly male with hypercalcaemia and grossly elevated PTH would suggest a parathyroid carcinoma rather than a benign parathyroid adenoma.
A 46-year-old male who 10 years ago underwent parathyroidectomy for hyperparathyroidism, presents with recurrent duodenal ulceration despite taking proton pump inhibitor (PPI)therapy.
The first patient has hyperparathyroidism and features of persistent duodenal ulceration despite PPI therapy (suggesting Zollinger-Ellison [ZE] syndrome) and hence multiple endocrine neoplasia (MEN) type 1.
Pancreatic neoplasia/ZE syndrome is not a feature of MEN type 2.
A 45-year-old male presents with a one month history of PR bleeding. On examination, he is noted to have circumoral pigmentation and freckling.
Case 2 has Peutz-Jeghers syndrome characterised by multiple polyps that may involve the entire gut, but are almost always present and most numerous in the small gut; in about 20-30 percent of cases they may occur in the stomach and colon.
Melanin spots, which are clinically characteristic, occur in almost all cases on the oral mucosa and lips and may occasionally be noted on the fingers, toes or on the face.
Clinical features include abdominal pain, intussusception, bleeding, etcetera.
The polyps are hamartomas.
Malignancy, in association with this syndrome, is quite rare and the subject of individual case reports. Association of this syndrome with ovarian tumours or cysts has been noted in some five percent of cases reported in females.
Inheritance occurs as an autosomal dominant trait.
Mutation can occur and may account for instances lacking a family history.
A 65-year-old female is referred with episodic light headedness and sweats. There is no past medical history of note. On examination, she has a few rubbery skin nodules and axillary freckling which she states she has had for many years. The only other feature is a blood pressure of 198/102 mmHg. She has a past medical history of acoustic neuroma.
The final case has subcutaneous nodules and has episodic symptoms with hypertension suggesting a phaeochromocytoma.
This suggests a diagnosis of neurofibromatosis. An autosomal dominant condition, other features include:
neurofibrosarcomas
osteomalacia, and
acoustic neuromas
A 62 year-old-female presents with weight loss, abdominal swelling and sweats. On examination she has a fine tremor of the outstretched hands, lid lag, but no palpable thyroid. Abdominal examination reveals a 10 cm right sided, lower abdominal mass extending above the rim of the pelvis.
The first patient has a pelvic mass and features of thyrotoxicosis suggesting a diagnosis of struma ovarii. This rare condition is an ovarian tumour which contains thyroid tissue and can cause thyrotoxicosis.
A 34-year-old male presents with episodic palpitations and sweats. Eight years ago he successfully underwent parathyroidectomy for hyperparathyroidism. Examination reveals a right sided thyroid swelling, a blood pressure of 180/100 mmHg but no specific abnormality on abdominal, respiratory or cardiovascular examination.
The second case of a patient with previous hyperparathyroidism, features suggestive of a phaeochromocytoma with a thyroid swelling (medullary thyroid cancer) supports a diagnosis of multiple endocrine neoplasia (MEN) type 2.
This condition is associated with the RET proto-oncogene and is autosomal dominant. It differs from MEN type 1, in that the latter is characterised by pituitary, parathyroid and pancreatic neoplasia.
A 29-year-old female presents with haematuria, weight loss and occasional night sweats. On examination, she is noted to have a right sided flank mass and fundoscopy reveals retinal haemangiomas.
The last case is a young woman with features suggestive of renal carcinoma and who has retinal haemangiomas.
The diagnosis is von Hippel-Lindau (vHL) disease, an autosomal dominant condition characterised by the deletion of the vHL tumour suppressor gene.
Other features include cerebellar haemangiomas, spinal cord haemangiomas and phaeochromocytoma.
A 65-year-old female is brought to casualty by her daughter with a three hour history of drowsiness and confusion. She is a type 2 diabetic and has recently commenced treatment with Glibenclamide 10 mg daily.
Hypoglycaemia
This case is a typical presentation of hypoglycaemia and this was probably precipitated by her long acting sulphonylurea – Glibenclamide.
A 60-year-old female presents with a one week history of deteriorating tiredness, polyuria and polydipsia. Two years ago she was diagnosed with metastatic breast carcinoma for which she receives Tamoxifen.
The case of metastatic breast cancer and polyuria/polydipsia and tiredness suggests hypercalcaemia.
Hypercalcaemia may be a consequence of direct bone erosion as with breast cancer or as a consequence of the elaboration of ectopic PTHrp by the tumour (squamous cell carcinoma of the lung) or due to elaboration of Vitamin D (Sarcoid/Lymphomas).
A 55-year-old male is admitted with urinary retention associated with urine tract infection. He is catheterized, receives treatment with Cefuroxime and is advised to drink plenty of water. The following day he becomes increasingly drowsy and develops fits.
This patient has features to suggest acute hyponatraemia which may have arisen following excessive water consumption and SIADH/infection. Fits are a serious manifestation signifying hyponatraemic encephalopathy.
Normal range sodium 134-144 mmol/l).
A 63-year-old male with a four year history of treated hypertension presents to his GP with tiredness and lethargy. On examination he appears well, is overweight and has a blood pressure of 144/90 mmHg. Routine biochemistry reveals a serum sodium of 130 mmol/l.
The first case of a patient with fatigue associated with hypertension and mild hyponatraemia suggests the use of diuretic therapy as a treatment of his hypertension. In particular, bendroflumethiazide, a first choice antihypertensive, often causes a mild hyponatraemia.
It is best treated by switching to an alternative antihypertensive. None of the other diagnoses would really be applicable for this patient as we are given no other suggestions.
Normal range sodium 134-144 mmol/l).
A 22-year-old female is brought to casualty with fits after attending a ‘rave’. On examination, she has a temperature of 38.3°C, a blood pressure of 128/80 mmHg and is drowsy. She has no previous medical history. Her serum sodium is 116 mmol/l.
The second case of a female who is admitted with hyponatraemic encephalopathy suggests the abuse of ecstasy and excessive water consumption. This patient is at serious risk from the associated cerebral oedema and requires appropriate therapy to raise her sodium. This may include hypertonic saline.
Normal range sodium 134-144 mmol/l).
A 33-year-old female with a past history of treated hypothyroidism presents with a two month history of weight loss and fatigue. On examination she is thin, appears pale, a pulse of 88 bpm and has a blood pressure of 100/60 mmHg. Her serum sodium concentration is 128 mmol/l.
The final case of a patient with hypothyroidism has hypotension, is thin and has a mild hyponatraemia which would suggest Addison’s. In particular, the autoimmunity in this patient would increase the risk of further autoimmune disorders.
The evidence would point away from a diagnosis of hypothyroidism due to under-replacement as the patient is thin and has a healthy pulse rate.