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Endocrinology

Teaching Cases

Siara Teelucksingh
20th August 2015
Case 1
A 31-year-old man is referred to the local Hypertension Clinic because of
recently discovered hypertension that is labile and difficult to control.
On seeing him his Blood Pressure is 210/170 mmHg.
Serum Creatinine is 1.5 mg/dL and Serum Potassium is 3.2 mmol/L.
He is on Enalapril 10mg po od, Nifedipine 20mg po bd and Atenolol 50mg po
od, but not on any diuretic.
Question
Which of the following is the most likely diagnosis?

- Pheochromocytoma
- Cushings Syndrome
- Conns Syndrome
- Addisons Disease
- Essential Hypertension
Discussion: Secondary Causes of Hypertension
- Pheochromocytoma
- Cushings Syndrome
- Conns Syndrome- HTN, HypoK (Muscle cramps, Weakness, Arrhythmias)
- Diff to Treat HTN - Ensure no Diuretics - wean off AntiHTNsives x 4-6/52 -
PRA, Aldosterone - USS/CT/MRI Adrenal Adenoma or Adrenal Hyperplasia
- Renal Artery Stenosis
- Coarctation of the Aorta
Case 2
A 35 year old female presents with failure to lose weight after giving birth to a
baby 6 weeks prior. She complains of dry skin, feeling cold when others are fine
and constipation. On examination, she is hoarse, has evidence of hair thinning
and has a firm, painless swelling in her neck. She has a family history of
hypothyroidism.
Question
Which of the following is the most likely cause of her presentation?

Hashimotos Thyroiditis
de Quervains Thyroiditis
Postpartum Thyroiditis
Euthyroid Sick Syndrome
Sheehan Syndrome
Discussion: Hypothyroidism
- Hashimotos Thyroiditis
- Most common cause - Runs in Families - Positive Anti-TPO antibodies
- Insidious Onset

- Postpartum Thyroiditis
- Occurs within 6/12 postpartum - firm painless swelling - more common
in patients with anti-TPO positive - usually self-limiting - Sometimes
permanent hypothyroidism
Case 3
An 18 year old female presents with tremor, anxiety, heat intolerance,
palpitations, shortness of breath and a diffuse swelling in her neck.
She has noticed that her eyes appeared bright over the last few weeks.
Question
The following image is of her Thyroid Scintigraphy.

What is the most likely cause of her thyrotoxicosis?

Graves disease
Toxic Nodule
Multinodular Goitre
de Quervains (Subacute Viral) Thyroiditis
Follicular Adenoma
Discussion: Hyperthyroidism
Causes of Hyperthyroidism
- Graves Disease
- Anti-TPO positive, Thyroid Scintigraphy shows diffuse uptake,
Associated with Thyroid Eye Disease, Responds well to Radioiodine
- Toxic Nodule
- Multinodular Goitre
- de Quervains (Subacute Viral) Thyroiditis
- Presents usually with pain, tender goitre and thyrotoxicosis - ESR
elevated - Treat with Prednisolone
Discussion
Thyroid Storm
- Unusual presentation of thyrotoxicosis and is precipitated by acute stress
in a previously undiagnosed patient
- Causes include infection, MI, DKA
- Inadequate adherence to therapy in an already diagnosed patient is
another cause
- Symptoms: Fever, Anxiety, Agitation, Sweating, Marked proximal
weakness, Tachycardias, Diarrhea, Heart Failure
- Mx: Carbimazole, B-Blockade, Digitalisation of AF, Corticosteroids
- Lugols iodine with Carbimazole achieves more rapid resolution
Case 4
A 55-year-old female presents with a 6 week history of nausea, abdominal pain,
constipation and right sided loin to groin pain associated with hematuria.
Renal ultrasound reveals bilateral renal calculi and routine biochemistry reveals
an elevated serum calcium of 11 mg/dL.
Her parathyroid hormone (PTH) level was found to be elevated.
A Tc99 Sestamibi Scan of Head/Neck/Upper Thorax revealed a parathyroid
adenoma.
Question
What is the most likely cause of her presentation?

Vitamin D toxicity
Primary hyperparathyroidism
Metastatic Breast Cancer
Sarcoidosis
Multiple Myeloma
Discussion: Hypercalcemia

The Tourniquet Effect can be a reason for hypercalcemia and as such, a first
elevated reading of Serum Calcium should be confirmed with a repeat sample
drawn without a tourniquet.

True Hypercalcemia: Common Causes: Primary Hyperparathyroidism,


Hypercalcemia of Malignancy, Sarcoidosis, Multiple Myeloma

Symptoms: Stones (Renal Calculi), Groans (Nausea, Vomiting, Abdominal


Pain, Constipation), Psychic Moans (Mood changes, Psychosis)
Case 5
A 54-year-old woman is seen for the first time in the Diabetes Clinic. She is
obese, plethoric and has marked bruising on her limbs and fresh striae over her
abdomen. She has developed a dorsal kyphosis following a vertebral collapse
earlier in the year.
Question
Which of the following is NOT a likely contributor to her presentation?

History of steroid injections for Osteoarthritis


Adrenal Adenoma
Pituitary Adenoma
Steroid inhalers for Bronchial Asthma
Oral prednisolone treatment for Rheumatoid Arthritis
Discussion: Cushings Syndrome
Cushing's syndrome is a collection of signs and symptoms due to prolonged
exposure to cortisol.
Signs and symptoms include: hypertension, central obesity but with thin arms
and legs, fresh striae, a moon face, plethora, buffalo hump, weak muscles,
weak bones, acne, and fragile skin that heals poorly. Women may have more
hair and irregular menstruation. Occasionally there may be changes in mood,
headaches, and a chronic feeling of tiredness.

Cushing's syndrome is caused by either excessive cortisol-like medication such


as prednisone or a tumor that either produces, or results in the production of
excessive cortisol by the adrenal glands. Cases due to a pituitary adenoma are
known as Cushing's disease.
Case 6
A 35-year-old is evaluated for weight loss and weakness with a recent history of
dizziness on going from supine to standing position. On examination, he is
hypotensive and has hyperpigmentation of the mucosa, elbows and skin
creases. Further investigations confirm a diagnosis of Addisons disease.
Question
Which one of the following is likely to be found in this condition?

Increased serum sodium


Increased serum chloride
Increased serum bicarbonate
Increased serum potassium
Decreased serum calcium
Discussion: Hypoadrenalism
In adrenal destruction, serum sodium, chloride and bicarbonate levels are
reduced, and serum potassium levels are elevated.
The hyponatremia is due to both loss of sodium in the urine (due to aldosterone
deficiency) and to movement into the intracellular compartment.
Hyperkalemia is caused by a combination of aldosterone deficiency, impaired
glomerular filtration (due to hypotension) and acidosis.

Causes: Addisons Disease, Waterhouse-Friderichsen syndrome (hemorrhagic


adrenalitis in fulminant meningococcemia), Disseminated Tuberculosis,
Bilateral Adrenal Metastasis
Case 7
A 75-year-old woman presents with a 2/7 history of vomiting, abdominal pain
and failure to pass flatus or stool.
On examination she has marked abdominal distention and decreased bowel
sounds. She also has marked thinning of the skin and extensive purpura.
She has no history of abdominal surgery.
Question
Which of the following is the next logical approach?

Emergency Exploratory Laparotomy


Drip & Suck
Enquire about a history of steroid use
Treat empirically with Hydrocortisone
Urgent Colonoscopy
Discussion: Relative Adrenal Insufficiency
Due to widespread injudicious administration of systemic steroids including
prednisolone and hydrocortisone, relative adrenal insufficiency has become an
increasingly common presentation.
This can be recognised by typical features as a spot diagnosis - thin skin and
purpura - with a positive response to having received steroid tablets or
injections in the past.
This commonly presents as unresolving intestinal obstruction, only reversible
with nothing other than steroid replacement.
Case 8
A 30-year-old woman presents to her GP with a history of amenorrhea and
galactorrhea. She is keen to become pregnant and has been trying to conceive
for 9 months with no success. She is of normal weight and has no constitutional
symptoms.
Question
Which of the following is most likely to be the reason for her symptoms?

Drug treatment she is on for asthma


Hypothyroidism
Hyperthyroidism
Previously undiagnosed hepatic impairment
Pituitary microadenoma
Discussion: Hyperprolactinemia
Sx: Galactorrhea, Amenorrhea, Decreased Libido
Causes:
- Pituitary Micro- (Common) or Macro-adenoma (Less common)
- Hypothyroidism
- PCOS
- Stress Related
- Pregnancy
- Drugs (TCAs, Antiemetics, Cimetidine)
- Renal Failure

Treatment: Dopaminergic agonists (Bromocriptine)


Case 9
A 55-year-old female presents with lethargy, weight loss, generalised weakness
and episodic dizziness when going from supine to standing position. She has
been hypothyroid for 20 years following the birth of her child, and is euthyroid
on replacement with Thyroxine 100mcg po od.
Question
Which of the following is most pertinent in her history taking and physical
examination?

Family history of hypothyroidism


Presence of a thyroid nodule
History of postpartum haemorrhage
Compliance with Thyroxine
Screening for Major Depressive Disorder
Discussion: Hypopituitarism
- Post-Surgical
- Sheehans Syndrome - Primary Hypopituitarism due to ischemic necrosis
of the pituitary gland caused by postpartum haemorrhage; characterised by
failure of postpartum lactation and failure to resume normal menstrual
cycle
Case 10
A 60-year-old man is referred to the Endocrine Clinic because his shoe size has
gone up from size 9 to size 11 and his wedding ring no longer fits him. He is
sweating a lot and his wife complains that he is snoring more at night. On
examination, he has a prominent jaw and wide spaces between his teeth.
Question
Which of the tests below is most useful for confirming a diagnosis of
acromegaly?

OGTT with GH measurements


Serum IGF-1 level
Skull X-Ray
Random GH level
MRI of pituitary fossa
Discussion: Acromegaly
IGF-1 provides the most sensitive lab test for the screening of acromegaly, and a
GH suppression test following an oral glucose load, which is a very specific lab
test, will confirm the diagnosis following a positive screening test for IGF-1. A
single value of the growth hormone (GH) is not useful in view of its pulsatility. GH
levels taken 2 hours after a 75 or 100 gram glucose tolerance test: GH levels are
suppressed below 1 g/L in normal people, and levels higher than this cutoff are
confirmatory of acromegaly. An MRI of the brain focusing on the sella turcica
after gadolinium administration allows for clear delineation of the pituitary and
the hypothalamus and the location of the tumor.
Case 11
A 35 year old man with Type 1 Diabetes mellitus who is on insulin presents in
the Emergency Department with fever, cough, vomiting and abdominal pain.
Examination reveals a dry mucosa, decreased skin turgor and a temperature of
37.8 degrees Celcius. Chest examination reveals bronchial breathing in the
right lower lobe, and a chest X-ray show it to be due to a right lower-zone
consolidation.
Other investigations show: Blood Glucose 540 mg/dL, Sodium 130 mmol/L,
Potassium 5.7 mmol/L, Urea 8.0 mmol/L, Crea 1.5 umol/L, pH 7.15,
Bicarbonate 12 mmol/L, PCO2 46 mmHg, Chloride 106 mmol/L. Urinary
ketones are positive (+++). The patient is admitted to the hospital and treated.
Question
Which of the following should not be used while treating him?

Intravenous Fluids
Insulin
Potassium
Bicarbonate
Antibiotics
Discussion: DKA - A Diabetic Emergency
Diabetic Ketoacidosis (DKA) is more common in T1DM than in T2DM.
Inadequate insulin causes lipolysis leading to ketosis and acidosis.
Common precipitating factors include: Inadequate insulin administration,
infections (eg. pneumonia, urinary tract infection), myocardial infarction, stroke,
gangrene.
Treatment is directed at the underlying cause and correction of the ketoacidotic
state. Here, the underlying cause, pneumonia, is treated with antibiotics. The
most important aspect of management is to give intravenous fluids as normal
saline, along with regular insulin. When the fluid balance is restored, the initially
high potassium concentration can fall and thus be corrected on its own or
monitored and supplemented as required.
Acidosis corrects itself, bicarbonate administration can impair cardiac function.
Case 12
A 25-year-old woman presents to the Reproductive Endocrinology Clinic with a
history of being unable to conceive after 2 years of using no contraception.

On examination she has central obesity, acne, hirsutism, hypertrichosis and


Grade 2 Acanthosis nigricans.

Her HbA1c is 5.4%.


Question
Which is the next step in her management?

Diet, Exercise & Metformin


Clomiphene Citrate to induce ovulation
Recommending Bariatric Surgery
Laparoscopic Ovarian Drilling
Considering Male Factor as a cause of infertility
Discussion: Insulin Resistance
Polycystic ovarian syndrome (PCOS) is one of the commonest causes of
anovulatory infertility. Patients can have a normal menstrual cycle but are more
likely to have oligomenorrhea. The underlying biochemical defect in patients
with PCOS is insulin resistance in both lean and obese patients with the
condition.
Discussion: Insulin Resistance
Other Associations with T2DM
- Acromegaly - Dx OGTT GH - > IGF1 monitoring post-Sx
- Haemochromatosis (Bronze Diabetes)
- Somatostatinoma (1:40,000,000)
- Glucagonoma (1:20,000,000) - 70% malignant [Necrolytic migratory
erythema]
- Atypical Antipsychotics
- Steroids
- Thiazides, B-blockers can worsen hyperglycemia in diabetics thus are not
first line antihypertensive agents in diabetics
Case 13
A 55-year-old lifelong smoker presents to his GP with a history of cough,
breathlessness and weight loss. A chest X-ray is abnormal, with a mass at the
right hilum.
Question
Which of the following results is the most likely to suggest the tumour is a
small-cell lung tumour?

Serum calcium of 10 mg/dL


Serum sodium of 123 mmol/L
Serum potassium of 5.5 mmol/L
Plasma osmolality of 335 mOsmol/kg
Urine osmolality of 145 mOsmol/kg
Discussion: SIADH
Small-cell lung tumours can secrete a number of hormones, including
antidiuretic hormone (ADH, vasopressin) and adrenocorticotropic hormone
(ACTH).
Excess ADH causes SIADH (Syndrome of Inappropriate Antidiuretic Hormone
Secretion), with hyponatremia and low plasma osmolality (normal range is 285-
305 mOsmol/kg) and concentrated urine (>500 mOsmol/kg).
Excess ACTH would cause a hypokalemic alkalosis and not hyperkalemia.
Hypercalcemia occurs in squamous-cell lung tumours because of ectopic
parathyroid hormone (PTH) secretion.
Case 14
A 30 year old woman is evaluated in the Endocrinology clinic because of
increased urine output. She weighs 60 kg and has a 24-hour urine output of
3500mL. Her basal urine osmolality is 210 mOsmol/kg. She undergoes a fluid
deprivation test, loses 3kg and her urine osmolality is 350 mOsmol/kg.
A subsequent injection of subcutaneous DDAVP (desmopressin acetate) did not
result in a further significant rise of urine osmolality after 2 hours
(355mOsmol/kg).
Question
Which is the most likely diagnosis?

Normal
Primary Polydipsia
Osmotic diuresis
Pituitary diabetes insipidus
Nephrogenic diabetes insipidus
Discussion: Polyuria
Diabetes Insipidus (DI) is suspected when the urine output is >50 mL/kg/day
(>3000mL for a 60kg female). If the basal urine osmolality is <300 mOsmol/kg,
it suggests an osmotic diuresis.
If fluid deprivation causes a urine osmolality >300 mOsmol/kg, it suggests
psychogenic (primary) polydipsia.
If not, it is either pituitary (neurogenic) or nephrogenic DI.
These are differentiated by the administration of subcutaneous DDAVP, which
causes an increased urine osmolality to >300 mOsmol/kg in neurogenic DI.
MEN 1
Multiple Endocrine Neoplasia type 1 (MEN 1 or Werner Syndrome) has an
autosomal dominant mode of inheritance and involves the three Ps: Parathyroid,
Pituitary, Pancreas
- Hyperparathyroidism is the most common manifestation in MEN 1
- Prolactinomas are the most common in the pituitary gland
- The pancreas is the second most commonly involved organ in MEN 1.
Pancreatic tumours are associated with
- Pancreatic Polypeptide (75-85%
- Gastrin (Zollinger-Ellison Syndrome) - Recurrent Peptic Ulcers
- Insulinoma - Hypoglycemia
- Glucagonoma - Hyperglycemia & Rash (Necrolytic Migratory Erythema)
- VIPoma (Vasoactive Intestinal Peptide Secreting Tumour) - Diarrhea &
Hypokalemia
MEN 2
MEN 2 usually involves the thyroid and parathyroid glands and
pheochromocytoma.
- MEN 2A is characterised by medullary thyroid carcinoma, parathyroid
hyperplasia/adenoma and pheochromocytoma
- MEN 2B is associated with mucosal and gastrointestinal neuromas and
Marfanoid features