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What is gigantism?
excess GH due to pituitary tumour before epiphyseal plates of long bones close
What is acromegaly?
excess GH due to a pituitary tumour after epiphyseal plates have sealed
Cause of acromegaly
pituitary gland producing too much growth hormone usually due to an adenoma in the pituitary gland
Presentation of acromegaly
swollen hands and feet
tiredness and difficulty sleeping
sometime sleep apnoea
gradual changes in facial features - brow, lower jaw and nose getting larger
teeth becoming more widely spaced
numbness and weakness in your hands - carpal tunnel syndrome
children and teenagers abnormally tall
thick, coarse, oily skin
joint pain
Investigations for acromegaly
blood tests - measure GH levels, insulin-like growth factor 1 (IGF-1) (elevated suggests acromegaly)
MRI scan of brain
Management of acromegaly
surgery to remove tumour
monthly injections of octreotide, lanreotide or pasireotide
a daily pegvisomant injection
bromocriptine or cabergoline tablets
radiotherapy - stereotactic or conventional
Complications of acromegaly
type 2 diabetes
hypertension
heart disease
cardiomyopathy
arthritis
bowel polyps
What is 1º hypercortisolism / Cushing’s syndrome?
hypersecretion of cortisol due to a tumour in the adrenal cortex
What is 2º hypercortisolism / Cushing’s disease
hypersecretion of cortisol due to a tumour in the pituitary gland
Causes of Cushing’s Syndrome
tumour in the pituitary gland in the brain
tumour in one of the adrenal glands
body producing too much cortisol
Presentation of Cushing’s Syndrome
increased fat on chest and tummy but slim arms and legs
a build-up of fat on the back of neck and shoulders, known as ‘buffalo hump’
red, puffy, rounded face
weight gain
skin that bruises easily
large purple stretch marks
weakness in upper arms and thighs
low libido and fertility problems
depression and mood swings
Investigations of Cushing’s Syndrome
measure cortisol levels in urine, blood and saliva (high cortisol suggests Cushing’s)
Management of Cushing’s Syndrome
reduce or stop steroids if they are the cause
surgery to remove tumour
radiotherapy
medicine to reduce the effect of cortisol (ketocanazole, mitotane, metyrapone), (mifepristone for people with type 2 diabetes)
What causes hypotension in Addison’s Disease?
loss of permissive effect of cortisol on adenoreceptors and loss of ability to retain Na⁺ leading to hypovolaemia
What is Addison’s Disease?
hyposecretion of all adrenal steroid hormones
Causes of Addison’s Disease
autoimmune destruction of adrenal cortex resulting in disruption of the production of the steroid hormones aldosterone and cortisol
TB can also damage adrenal glands
Presentation of Addison’s Disease
fatigue
muscle weakness
low mood
loss of appetite and unintentional weight loss
increased thirst
dizziness / fainting, cramps, exhaustion develop over time
darkened skin, lips or gums
hypotension
Management of Addison’s Disease
medication to replace missing hormones - hydrocortisone (prednisolone and dexamethasone can also be used) to replace cortisol and fludrocortisone to replace aldosterone
Investigations for Addison’s Disease
blood tests
sodium (low)
cortisol (low)
potassium (high)
ACTH (high)
aldosterone (low)
glucose (low)
adrenal antibodies (positive)
synacthen stimulation test - ACTH level high but cortisol and aldosterone low = Addison’s Disease
thyroid function test
CT / MRI
Causes of hypercalcaemia
overactive parathyroid glands
Presentation of hypercalcaemia
excessive thirst
frequent urination
nausea and vomiting
constipation
muscle weakness
fatigue
Management of hypercalcaemia
IV isotonic saline, subcutaneous calcitonin and a bisphosphonate
Complications of hypercalcaemia
osteoporosis
kidney stones
kidney failure
arrhythmia
Causes of hyperprolactinaemia
pregnancy
lactation
stress
drugs
pituitary lesions
What drugs can cause hyperprolactinaemia
dopamine antagonists
DA-depleting agents
oestrogens
some antidepressants
Presentation of hyperprolactinaemia
milky nipple discharge
menstrual irregularities
erectile dysfunction
headaches
visual problems
Investigations for hyperprolactinaemia
bloods - prolactin (high)
MRI
Management of hyperprolactinaemia
surgery to remove tumour
medicine to lower prolactin levels - Bromocriptine, cabergoline
What is hypopituitarism?
deficiency of one or more of the pituitary hormones
Causes of hypopituitarism
head injuries
brain surgery
radiation treatment to head or neck
stroke or haemorrhage
Presentation of GH deficiency hypopituitarism
fatigue
muscle weakness
changes in body fat composition
Presentation of LH and FSH deficiency hypopituitarism
hot flashes
irregular or no periods
loss of pubic hair
an inability to produce milk for breast-feeding
Presentation of TSH deficiency hypopituitarism
fatigue
weight gain
dry skin
constipation
sensitivity to cold or difficulty staying warm
Presentation of ACTH deficiency hypopituitarism
severe fatigue
hypotension
frequent and prolonged infections
nausea and vomiting
abdominal pain
confusion
Presentation of ADH deficiency hypopituitarism
eccessive urination
extreme thirst
electrolyte imbalances
Management of hypopituitarism
hormone replacement therapy
surgery to remove pituitary adenoma
Management of hypersecretion pituitary tumours
dopamine agents (prolactinoma)
somatostatin analogues (acromegaly)
GH receptor antagonist (acromegaly)
Management of hyposecretion pituitary tumours
cortisol, T4, sex steroids, GH
desmopressin
Adverse effects of somatostatin analogues
nausea, cramps, diarrhoea, flatulence
cholesterol gallstones
Causes of hypothyroidism
immune system attaching the thyroid gland
thyroid cancer
Presentation of hypothyroidism
fatigue / lethargy
cold intolerance
weight gain
weakness, arthralgia, myalgia
constipation
menstrual irregularities
depression, impaired concentration / memory
dry skin
reduced body and scalp hair
thyroid pain
oedema, including swelling of eyelids
hoarse voice
goitre
bradycardia and diastolic hypertension
paraesthesia
Investigations for hypothyroidism
thyroid function test - measures TSH and free T4 (high TSH, low FT4 = hypothyroidism)
bloods - FBC, glucose or HbA1c
Management of hypothyroidism
levothyroxine daily
regular blood tests until correct does of levothyroxine is reached
What dosage of levothyroxine should adults <65 years be started on?
1.6 micrograms per kg daily
What dosage of levothyroxine should adults >65 years or with pre-existing cardia disease be started on?
25 to 50 micrograms daily
How should levothyroxine be taken?
first thing in the morning
with water
on an empty stomach
Causes of hyperthyroidism
Graves’ disease
nodules on the thyroid
amiodarone
Presentation of hyperthyroidism
nervousness, anxiety, irritability
mood swings
difficulty sleeping
persistent tiredness and weakness
sensitivity to heat
swelling in neck (goitre)
palpitations
light periods
bowel frequency
hyperreflexia
twitching or trembling
weight loss
Investigations for hyperthyroidism
thyroid function blood test - measure TSH, T3 and T4 (low TSH and high FT3/FT4 = hyperthyroidism)
thyroid scan
Management of hyperthyroidism
carbimazole / propylthiouracil to stop thyroid producing excess hormones
radioiodine treatment
surgery to remove some or all of thyroid
Causes of thyroid cancer
thyroiditis
goitre
radiotherapy in childhood
obesity
familial adenomatous polyposis
acromegaly
Presentation of thyroid cancer
a painless lump or swelling in the front of the neck
swollen glands in the neck
unexplained hoarseness that does not get better after a few weeks
a sore throat that does not get better
difficulty swallowing (dysphagia)
Investigations for thyroid cancer
thyroid function test - rule in hyper/hypothyroidism instead of cancer
ultrasound
biopsy
CT / MRI
Management of thyroid cancer
surgery - to remove all or part of the thyroid
radioactive iodine treatment
external radiotherapy
chemotherapy and targeted therapies
Normal calcium level
between 2.1 mmol per litre and 2.6 mmol per litre
Causes of hypocalcaemia
total thyroidectomy
parathyroidectomy
severe vitamin D deficiency
Mg²⁺ deficiency
Presentation of hypocalcaemia
paraesthesia
tetany (neuromuscular irritability)
carpopedal spasm
muscle cramps
muscle twitching
seizures
prolonged QT interval
hypotension
heart failure
arrythmia
Investigations for hypocalcaemia
ECG
serum calcium
albumin
phosphate
U&Es
vitamin D
magnesium
Management of mild hypocalcaemia
oral calcium tablets
vitamin D if deficient
Management of severe hypocalcaemia
IV calcium gluconate
treat underlying cause
Growth disorders - indications for referral
extreme short or tall stature
height below target height
abnormal height velocity
history of chronic disease
obvious dysmorphic syndrome
early / late puberty
Causes of short stature
undernutrition
chronic illness - JCA, IBD, coeliac
iatrogenic - steroids
psychological and social
hormonal - GHS, hypothyroidism
syndromes - Turner, P-W
What is early puberty in boys?
<9 years
What is delayed puberty in boys?
14 years
What is early puberty in girls?
<8 years
What is delayed puberty in girls?
13 years
Causes of delayed puberty
gonadal dysgenesis
chronic diseases - Crohn’s, asthma
impaired HPG axis
bone age delay
What is type I diabetes mellitus?
insulin-dependent diabetes - where your blood glucose level is to high because your body can’t make insulin
Presentation of type I diabetes mellitus
short duration of:
thirst
peeing more frequently (polyuria)
nocturia
fatigue
weight loss
abdominal pain
blurred vision
on examination:
ketones on breath
dehydration
increased RR, tachycardia, hypotension
low grade infections, thrush
Investigations for diabetes
diagnostic glucose levels - fasting ≥ 7.0mmol/l, random ≥ 11.1mmol/l
oral glucose tolerance test 2hrs after 75g CHO ≥ 11/1mol/l
HbA1c ≥ 48mmol/mol
Management of type I diabetes mellitus
eat healthily
exercise regularly
regular blood tests
smoking cessation
reduce alcohol intake
regular insulin injections for rest of life
What is type II diabetes?
non-insulin dependent diabetes - when the insulin your pancreas makes can’t work properly as the body’s cells do not react to insulin properly, or your pancreas can’t make enough insulin and so blood glucose levels keep rising
Risk factors for type II diabetes mellitus
obesity
unhealthy diet
hypertension
long-term steroid use
age
ethnicity
family history
Management of type II diabetes mellitus
eat healthily
exercise regularly
regular blood tests
smoking cessation
reduce alcohol intake
weight loss
metformin
gliclazide / glimepiride / alogliptin / pioglitazone
dapagliflozin / empaglifozin
exenatide or liraglutide injections
insulin
Side effects of metformin
nausea and vomiting
diarrhoea
Impaired fasting glucose level in intermediate hyperglycaemia
6.1 - 7mmol/l
Impaired glucose tolerance 2hrs glucose test in intermediate hyperglycaemia
≥7.8 and <11mmol/l
HbA1c in intermediate hyperglycaemia
42 - 47mmol/mol
When can HbA1c not be used for diagnosing diabetes mellitus?
children and young people
pregnancy - correct or recent (<2months)
short duration diabetes symptoms
high risk of diabetes and acutely ill
patients taking medications that can cause rapid glucose risk (corticosteroids, antipsychotic drugs)
acute pancreatic damage / pancreatic surgery
renal failure
HIV infection
Presentation of type II diabetes mellitus
thirst
peeing more frequently (polyuria)
nocturia
fatigue
weight loss
blurred vision
not ketotic
overweight
low grade infections, thrush
Causes of autoimmune diseases
genetic factors
environmental factors
infections
drugs
UV radiation
Management of autoimmune diseases
suppression of the damaging immune response
replacement of the function of the damaged organ
What is cretinism?
hypothyroidism present in the new-born where there is physical growth and mental development impairment
What is the most common cause of acquired hypothyroidism in adults?
Hashimoto thyroiditis
What are autoimmune polyendocrine syndromes?
a diverse group of clinical conditions characterised by functional impairment of multiple endocrine glands due to loss of immune tolerance
Examples of autoimmune polyendocrine syndromes
alopecia
vitiligo
coeliac disease
autoimmune gastritis with vitamin B12 deficiency
Presentation of autoimmune polyendocrine syndrome type 1 (ASP-1)
at least two of three cardinal components during childhood:
chronic mucocutaneous candidiasis
hypoparathyroidism
primary adrenal insufficiency
other typical components:
enamel hypoplasia
enteropathy with chronic diarrhoea or constipation
primary ovarian insufficiency
less frequent components:
bilateral keratitis
periodic fever with rash
autoimmunity-induced hepatitis, pneumonitis, nephritis, exocrine pancreatitis, functional asplenia
What is more common, autoimmune polyendocrine syndrome type 1 or 2?
type 2
Presentation of autoimmune polyendorine syndrome type 2 (ASP-2)
at least two of:
type 1 diabetes
autoimmune thyroid disease
Addison’s disease
Presentation of hyperglycaemia
tiredness
nausea
hyperactivity
irritability
blurred vision
increased breathing
Presentation of hypoglycaemia
headache
hunger
sweating
confusion
shakes
irritability
anxiety
blurred vision
drowsiness
confusion
What can chronic poor control of diabetes lead to in small blood vessel damage
visual impairment
renal dysfunction
foot ulcers
What can chronic poor control of diabetes lead to in large blood vessel damage
stroke
myocardial infarction
Why are laboratory tests used for in diabetes?
diagnosis
monitoring
prognosis
screening
Co-morbidities associated with obesity
asthma
cancer
cardiovascular disease
dementia
depression
type 2 diabetes
fertility problems
gastro-oesophageal reflux disease
kidney disease
liver disease
osteoarthritis
acute pancreatitis
obstructive sleep apnoea syndrome
Management of obesity tier system
Tier 1 - population-wide health improvement work
Tier 2 - primary care
Tier 3 - specialist weight management
Tier 4 - specialist surgical service
Tier 1 management of obesity
population-wide health improvement work:
community interventions including active referral
walking groups
leisure club classes
cooking classes
Tier 2 management of obesity
Primary care
NHS Health Weight programmes
lifestyle adviser
community dietetic
drug therapy if appropriate supported by local clinical guidance
Tier 3 management of obesity
Specialist Weight Management
access to multi-disciplinary team e.g. dietetic led programme, psychological expertise, physiotherapy
Tier 4 management of obesity
Specialist Surgical Service:
bariatric surgery
gastric bands
specialist follow up