Endocrinology Notes
Endocrinology Notes
Endocrinology Notes
PITUITARY DISORDERS
In the dexamethasone suppression test normal individuals suppress cortisol levels to <
50 nmol/L.
MRCPASS NOTES 1
The inferior petrosal sinus sampling test, an elevated central ACTH concentration
compared to a peripheral value (from arm veins) indicates pituitary dependent
Cushing's disease. The test involves a microcatheter being advanced through initially
the femoral vein and eventually into the inferior petrosal sinuses which lie along the
internal aspect of the skull base which drain blood from the pituitary gland.
Metyrapone is an inhibitor of 11 beta hydroxylase, inhibiting the conversion of 11
deoxycortisol to cortisol, and can be used as treatment in Cushing’s syndrome.
DIABETES
A random glucose of >11.1 and a fasting glucose of >6.8 mmol/L (two occasions)
would confirm the diagnosis .
Diabetic neuropathy
Autonomic neuropathy to the gut, bladder and sexual organs (impotence) can occur. A
3rd nerve mononeuropathy can occur. Motor neuropathy can cause muscle wasting,
and sensory neuropathy causes vibration sensory loss.
MRCPASS NOTES 2
In diabetics who have had an MI, the DIGAMI study showed that intravenous insulin
for 24 hours and subcutaneous insulin for 3 months improved mortality rates for up to
3 years after.
THYROID DISORDERS
Graves disease is the diagnosis - thyroid autoantibodies are increased. Almost 80%
of patients have exopthalmos. Medical treatment such as carbimazole or radioiodine
treatment are recommended rather than surgery. There will be increased uptake on the
thyroid radioisotope scan.
Toxic thyroid nodules are best treated with radioactive iodine as this concentrates on
the overactive adenoma cells. Radioiodine treatment is contraindicated in young
children, pregnant and lactating women. The major complication of treatment with
radioactive iodine is the progressive incidence of hypothyroidism and thyroid
replacement may be necessary in the future.
MRCPASS NOTES 3
Hashimoto’s thyroiditis. This disorder occurs most commonly in middle-aged
women and is caused by the reaction of the immune system against the thyroid gland.
It may occur in people with a family history of thyroid diseases or with other
autoimmune diseases, especially type 1 diabetes or adrenal insufficiency.
Sick euthyroid is seen in unwell patients who are clinically euthyroid but have low
levels of T3 and T4. The syndrome is very common and, in fact, may be found in up
to 70% of hospitalized patients. This is often why TFT’s are not accurate on patients
in ITU.
THYROID CARCINOMA
Poor prognostic factors in thyroid carcinoma include advanced age (>50), male,
advanced stage, prior neck surgery, and associated multiple endocrine neoplasia.
Overall, papillary carcinoma has a 30-year cancer-related death rate of 6%. Follicular
carcinoma has a 30-year cancer-related death rate of 15%.
PARATHYROID DISORDERS
MRCPASS NOTES 4
Pseudohypoparathyroidism is a genetic disorder that resembles hypoparathyroidism
(lowered levels of parathyroid hormone) but is caused by a lack of response to
parathyroid hormone rather than a deficiency in the hormone itself. A picture very
similar to hypoparathyroidism develops with hypocalcaemia in the blood and high
phophate levels.
This defect also causes short stature, round face and short hand bones and is also
called Albright's hereditary osteodystrophy. When Albright's hereditary
osteodystrophy occurs without hypocalcemia, it is known as
pseudopseudohypoparathyroidism.
MEN 2
MEN 2a is associated with medullary thyroid carcinoma (MTC), parathyroid tumours
(10-20%) and pheochromocytoma (20-50%).
MEN 2b is associated with presentation of medullary thyroid carcinoma, parathyroid
tumours and pheochromocytoma + ganglioneuromatosis (pathognomonic), and
marfanoid habitus.
ADRENAL DISEASES
In Conn's syndrome, renin levels are low, and excretion of potassium is high due to
increased sodium retention. There is autonomous aldosterone secretion in the
presence of low or suppressed renin activity. A low potassium (< 3.5 mmol/L)
accompanied by metabolic alkalosis is characteristic.
MRCPASS NOTES 5
Adrenal adenoma is the commonest cause of Conn's syndrome. Sodium chloride
infusion is a diagnostic test, aldosterone levels are suppressed in the normal
population but not in Conn's syndrome patients.
Steroid replacement is usually given 10/5/5 mg or 10/5 mg, although this is adjusted
with cortisol day curves. Fludrocortisone 100 μg mane should be adequate.
Steroids:
The equivalent ratio of prednisolone: hydrocortisone is 1:4.
The ratio for dexamethasone : prednisolone is 1:10.
The ratio for dexamethasone: hydrocortisone is 1:40.
MRCPASS NOTES 6
mid-line cranio-facial deformities such as cleft palate or harelip, and renal
abnormalities. Most are of normal or above average stature. Females may present with
primary amenorrhoea; males with cryptorchidism. LH and FSH levels are typically
low.
Vasopressin (Anti Diuretic Hormone) acts on the distal tubule and collecting ducts
to increase permeability to free water. Deficiency of this hormone in diabetes
insipidus results in the excretion of dilute urine (increased water clearance) and
hypernatraemia.
In a normal response to the water deprivation test the maximum urine osmolality
exceeds plasma osmolality and the urine osmolality does not increase > 5 % after
administration of vasopressin. The plasma osmolality normal range is 278-300
mosmol/kg and urine osmolality normal range is 350-1000 mosmol/kg.
In diabetes insipidus, patients are unable to concentrate their urine to greater than
plasma osmolality but after administration of vasopressin the urine osmolality
increases by > 50 %.
Patients with nephrogenic diabetes insipidus are unable to concentrate their urine
and they show no response to vasopressin
MRCPASS NOTES 7
renal haemangiomas. Diagnosis is with raised urinary catecholamines over 24 hours,
and also MIBG scan of the adrenals.
MRCPASS NOTES 8
Congenital adrenal hyperplasia: Hirsutism, ambibuous genitalia and precocious
puberty in boys (normal puberty is seen in girls). Premature epiphyseal closure is a
classical feature of CAH. It is also associated with hyperpigmentation and
hyperreninaemia due to sodium loss and hypovolaemia.
11-beta-hydroxylase is the second most common variant of CAH and accounts for
approximately 5% of cases. Deficiency of 11 beta-hydroxylase results in a loss of
cortisol; hence, due to feedback mechanisms, there is an increase in ACTH and a
subsequent increase in production of 11-deoxycorticosterone. Diagnosis is made by
measuring 11-deoxycortisol, which is typically high. In the classic form, other
hormones that may be elevated include DOC (a potent mineralocorticoid), urinary 17-
ketosteroids, and urinary tetra hydrometabolites.
PORPHYRIA
Infection, pregnancy, stress (eg argument) and drugs can precipitate an acute
porphyria attack.
MRCPASS NOTES 9
chloroquine
steroids
Purpuric rash is the most common presenting feature of cryoglobulinaemia but other
cutaneous features which may occur are Raynaud’s phenomenon, telangiectasiae,
urticaria and pigmentation.
MRCPASS NOTES 10
steatorrhoea
motor tics
emotional lability, but normal cognitive function
Phenylketonuria occurs due to a defective enzyme phenylalanine hydroxylase.
Classic PKU is present when plasma phenylalanine levels accumulate and exceed 20
mg/dL (1200 mmol/L). Urinary phenylalanine metabolites are raised.
Phenylalanine accumulation causes severe low IQ, microcephaly, epilepsy,
depigmentation of the iris and hair. Guthrie bacterial inhibition test is used for infant
testing. Fe chloride turns green in urine due to ketones.
METABOLIC DISORDERS
Causes of hypomagnesaemia:
Loop diuretics
Aminoglycosides
Cyclosporine
amphotericin
cisplatin
Normal anion gap metabolic acidosis: The normal anion gap is 8-16. The anion gap
in this question is Na+K-(Cl+HCO3) .
MRCPASS NOTES 11
Nephrocalcinosis is related to type I (distal) renal tubular acidosis. It also causes
hyperchloraemic metabolic acidosis (it is one of the causes of normal anion gap
metabolic acidosis).
Type 4 RTA is caused by a defect in the distal tubule, but it is different from classic
distal RTA and proximal RTA because it results in hyperkalaemia rather than
hypokalaemia. RTA type 4 is in effect hyporeninaemic hypoaldosteronism.
It occurs when blood levels of aldosterone are low or when the kidneys do not
respond to it. Fludrocortisone is usually effective as a form of treatment.
Type IV RTA may result from may result from sickle cell disease, urinary tract
obstruction, lupus, amyloidosis, or transplantation.
MRCPASS NOTES 12