and delirium or psychiatric symptoms. In hypoparathyroidism,
hypocalcaemia may cause hyper-reflexia or tetany (involuntary
muscle contraction), most commonly in the hands or feet.
Paraesthesiae of the hands and feet or around the mouth may
occur. Hypoparathyroidism is most often caused by inadvertent
damage to the glands during thyroid surgery but may also be
caused by autoimmune disease. Patients with the rare autosomal
dominant condition pseudohypoparathyroidism have end-organ
resistance to parathyroid hormone and typically have short stature,
a round face and shortening of the fourth and fifth metacarpal
The physical examination • 199
• Examine the neck for scars. Parathyroid tumours are very
• Measure the blood pressure and assess the state
of hydration (p. 244). Inflating the blood pressure cuff
in a patient with hypocalcaemia may precipitate carpal
muscle contraction, producing a typical picture with
the thumb adducted, the proximal interphalangeal
and distal interphalangeal joints extended and the
metacarpophalangeal joints flexed (‘main d’accoucheur’,
hand of the obstetrician, or Trousseau’s sign;
• Test for muscle weakness and hyper-reflexia (p. 138).
• Look for evidence of recent fractures or bone deformity/
• Perform urinalysis (renal stones may result in
• polyuria, polydipsia (hypercalcaemia)
• abdominal pain or constipation (hypercalcaemia)
• confusion or psychiatric symptoms (hypercalcaemia)
• muscle cramps, perioral or peripheral paraesthesia
Past medical, drug, family and
• recent neck surgery or irradiation
• past history of bone fractures
• past history of renal stones
• family history of hyperparathyroidism (which can be part of
the autosomal dominant multiple endocrine neoplasia
syndrome) or other endocrine disease (Addison’s disease
and type 1 diabetes can be associated with
hypoparathyroidism as part of the autosomal recessive
type 1 autoimmune polyglandular syndrome).
• Hands: ask the patient to make a fist and assess the
length of the metacarpals (in pseudohypoparathyroidism
the metacarpals of the ring and little fingers are shortened;
(A) Courtesy of Dr Dilip Patel.
or headache due to expansion of the sella. Adenomas may
produce hormones such as prolactin, GH or ACTH; the resulting
symptoms and signs will depend on the excess hormone
• galactorrhoea (breast milk secretion)
• oligomenorrhoea, amenorrhoea or infertility (in women)
• reduced libido, erectile dysfunction and reduced shaving
GH excess prior to puberty presents as gigantism; after puberty,
• changes in facial features (ask to see old
• an increase in shoe, ring or glove size
• associated medical conditions: arthropathy, carpal tunnel
syndrome, hypertension, diabetes, colonic malignancy,
Apart from headache due to stretching of the diaphragma sellae
and visual abnormalities, clinical presentation depends on the
deficiency of the specific anterior pituitary hormones involved.
Individual or multiple hormones may be involved, so questioning
in relation to deficiencies of the thyroid, adrenocortical and
reproductive hormones is needed.
Enquire about family history since pituitary disease can occur as
part of inherited multiple endocrine neoplasia or familial pituitary
• Look at the face for coarsening of features, thick, greasy
skin, prominent supraorbital ridges, enlargement of the
nose, prognathism (protrusion of the mandible) and
separation of the lower teeth (Fig. 10.9A,B).
• Examine the hands and feet for soft-tissue enlargement
and tight-fitting rings or shoes, carpal tunnel syndrome
and arthropathy (Fig. 10.9C,D).
• Assess the visual fields (p. 162).
• Check the blood pressure and perform urinalysis.
Hypertension and diabetes mellitus are common
Fig. 10.8 Pituitary macroadenoma. The tumour extends into the
suprasellar cistern and is compressing the optic chiasm. Courtesy of
The pituitary gland is enclosed in the sella turcica at the base of
the skull beneath the hypothalamus. It is bridged over by a fold of
dura mater (diaphragma sellae) with the sphenoidal sinus below
and the optic chiasm above. Lateral to the pituitary fossa are the
cavernous sinuses, containing cranial nerves III, IV and VI and the
internal carotid arteries. The gland comprises anterior and posterior
lobes. The anterior lobe secretes adrenocorticotrophic hormone
(ACTH), prolactin, growth hormone (GH), thyroid-stimulating
hormone (TSH) and gonadotrophins (luteinising hormone (LH)
and follicle-stimulating hormone (FSH)). The posterior lobe is
an extension of the hypothalamus, and secretes vasopressin
(antidiuretic hormone) and oxytocin.
Pituitary tumours are common and are found incidentally in around
10% of patients undergoing head computed tomography (CT) or
magnetic resonance imaging (MRI). Hypopituitarism can result
from a space-occupying lesion or from a destructive or infiltrative
process such as trauma, radiotherapy, sarcoidosis, tuberculosis
or metastatic disease. Pituitary infarction or haemorrhage can
result in acute hypopituitarism (referred to as pituitary apoplexy)
and is a medical emergency; it is often associated with headache,
vomiting, visual impairment and altered consciousness.
Non-functioning pituitary adenomas may be asymptomatic
or may present with local effects, such as compression of the
optic chiasm causing visual loss (typically bitemporal upper
quadrantanopia or hemianopia; Fig. 10.8 and see Fig. 8.5)
• absent axillary hair (Fig. 10.10B)
• reduced/absent secondary sexual hair and testicular
atrophy (caused by gonadotrophin deficiency)
• visual field defects (most often bitemporal hemianopia),
optic atrophy or cranial nerve defects (III, IV and VI),
caused by a tumour compressing the optic chiasm, optic
• extreme skin pallor (a combination of mild anaemia and
melanocyte-stimulating hormone deficiency; Fig. 10.10A)
The adrenals are small, pyramidal organs lying immediately
above the kidneys on their posteromedial surface. The adrenal
medulla is part of the sympathetic nervous system and
secretes catecholamines. The adrenal cortex secretes cortisol
(a glucocorticoid), mineralocorticoids and androgens.
Cushing’s syndrome is caused by excess exogenous or
endogenous glucocorticoid exposure. Most cases are iatro-
• nausea, vomiting, diarrhoea, constipation, abdominal pain
Enquire about recent or past exogenous glucocorticoid usage
(route, dose, duration) as this may contribute to either iatrogenic
Cushing’s syndrome or suppression of the hypothalamic–pituitary–
adrenal axis and resultant glucocorticoid insufficiency.
• Look at the face and general appearance for central
obesity; there may be a round, plethoric ‘moon’
face (Fig. 10.11A) or dorsocervical fat pad (‘buffalo
• Examine the skin for thinning and bruising (10.11D), striae
(especially abdominal; Fig. 10.11C), acne, hirsutism and
signs of infection or poor wound healing.
• Examine the legs for proximal muscle weakness and
• Perform ophthalmoscopy for cataracts and hypertensive
retinal changes (see Fig. 8.18).
• Perform urinalysis for glycosuria.
genic and caused by side effects of glucocorticoid therapy.
‘Endogenous’ Cushing’s usually results from an ACTH-secreting
pituitary microadenoma, but other causes include a primary
adrenal tumour or ‘ectopic’ ACTH secretion by a tumour. The
catabolic effects of glucocorticoids cause widespread tissue
breakdown (leading to proximal myopathy, fragility fractures,
spontaneous bruising and skin thinning) and central accumulation
of body fat (Fig. 10.11). Patients may develop hypertension or
diabetes and are susceptible to infection. Hypertension can also
result from overproduction of aldosterone (a mineralocorticoid)
Addison’s disease is due to inadequate secretion of cortisol,
usually secondary to autoimmune destruction of the adrenal
cortex. Symptoms are usually non-specific (see later).
Adrenal adenomas usually present with features of hormone
hypersecretion, as described later. Occasionally, they may be
asymptomatic and are detected incidentally on abdominal CT
or MRI scans. Functioning adrenal adenomas may present with
refractory hypertension (Box 10.4).
• increase in weight, particularly if the weight is centrally
• bruising, violaceous striae and skin thinning
• difficulty rising from a chair/bath (may indicate proximal
The physical examination • 203
10.4 Adrenal causes of endocrine hypertension
Condition Hormone produced in excess Associated features
Conn’s syndrome Aldosterone Hypokalaemia
skin thinning, violaceous striae, hypokalaemia
Phaeochromocytoma Noradrenaline (norepinephrine),
Paroxysmal symptoms, including hypertension, palpitations, sweating
insufficiency, the pituitary increases ACTH secretion in
response to low cortisol levels. High levels of ACTH increase
melanocyte-stimulating hormone, leading to increased skin
pigmentation (most striking in white Caucasians). Vitiligo
(depigmentation of areas of skin) occurs in 10–20% of
Addison’s disease cases (Fig. 10.12A).
• Measure the blood pressure and test for postural
hypotension (p. 51), resulting from salt and water loss due
to inadequate mineralocorticoid.
• Look for signs of weight loss.
• Examine the skin for abnormal or excessive pigmentation.
This is most prominent in sun-exposed areas or epithelia
subject to trauma or pressure: skin creases, buccal mucosa
(Fig. 10.12B) and recent scars. In primary adrenal
The gonads (testes and ovaries) secrete sex hormones
(testosterone and oestrogen) in response to gonadotrophin
(FSH and LH) release by the pituitary. The reproductive system
Most commonly, men present with androgen deficiency, whereas
women present with hyperandrogenism.
Hypogonadism can be primary (failure of the gonad itself) or
secondary (where reduced gonadotrophin levels cause gonadal
failure). Klinefelter’s syndrome (47XXY) is the most common cause
of primary hypogonadism in men (1:600 live male births; Fig.
10.13). Secondary hypogonadism may be caused by pituitary
disease, extremes of weight, or drugs that suppress hypothalamic
gonadotrophin releasing hormone release (such as anabolic
steroids or opiates). Presenting symptoms in men include loss
of libido, erectile dysfunction, loss of secondary sexual hair,
reduction in testicular size and gynaecomastia (p. 214).
Hyperandrogenism in women usually presents with hirsutism
(excessive male-pattern hair growth; Fig. 10.14), acne and/or
oligomenorrhoea, and is commonly due to polycystic ovarian
syndrome (PCOS; usually also associated with obesity).
Other less common causes should be considered (such as
congenital adrenal hyperplasia). Virilisation is suggested by
male-pattern baldness, deepening of the voice, increased
muscle bulk and clitoromegaly; if present in women with a short
history of severe hirsutism, consider a testosterone-secreting
• thirst: due to the resulting loss of fluid
• weight loss: due to fluid depletion and breakdown of fat
and muscle secondary to insulin deficiency.
Other common symptoms are tiredness, mood changes and
blurred vision (due to glucose-induced changes in lens refraction).
Bacterial and fungal skin infections are common because of the
combination of hyperglycaemia, impaired immune resistance
and tissue ischaemia. Itching of the genitalia (pruritus vulvae in
women, balanitis in men) is due to Candida yeast infection (thrush).
Past medical, drug, family and
• Previous glucose intolerance or gestational diabetes, which
are risk factors for progression to type 2 diabetes.
• Other autoimmune conditions such as thyroid disease
(increased incidence of type 1 diabetes).
• Drug therapy: glucocorticoids can cause steroid-induced
• Family history of diabetes or autoimmune disease.
Monogenic diabetes is usually inherited in an autosomal
dominant manner. Patients are often slim (unlike those with
type 2 diabetes) but do not require insulin at diagnosis (unlike
those with type 1 diabetes). Monogenic diabetes should be
considered in people presenting with diabetes under the age
of 30 who have an affected parent or a family history of
early-onset diabetes in around 50% of first-degree relatives.
• Smoking habit: combines with diabetes to increase the
risk of vascular complications.
• Alcohol: raises the possibility of pancreatic diabetes.
Fig. 10.13 Klinefelter’s syndrome. Tall stature, gynaecomastia, reduced
The pancreas lies behind the stomach on the posterior abdominal
wall. Its endocrine functions include production of insulin (from beta
cells), glucagon, gastrin and somatostatin. Its exocrine function
is to produce alkaline secretions containing digestive enzymes.
Diabetes mellitus is characterised by hyperglycaemia caused
by absolute or relative insulin deficiency.
Diabetes may be primary or secondary. Primary diabetes is
• type 1: severe insulin deficiency due to autoimmune
destruction of the pancreatic islets. These patients are
susceptible to acute decompensation due to hypoglycaemia
or ketoacidosis, both of which require prompt treatment.
• type 2: commonly affects people who are obese and
insulin-resistant, although impaired beta-cell function is
also important. These patients may decompensate by
developing a hyperosmolar hyperglycaemic state.
Secondary causes of diabetes and the associated history and
examination features are described in Box 10.5.
Diabetes mellitus commonly presents with a classical triad of
• polyuria (and nocturia): due to osmotic diuresis caused by
Assessment of a patient with newly
• Look for evidence of weight loss and dehydration.
Unintentional weight loss is suggestive of insulin deficiency.
• Check for clinical features of acromegaly or Cushing’s
• Look for Kussmaul respiration (hyperventilation with a
deep, sighing respiratory pattern) or the sweet smell of
ketones, both of which suggest insulin deficiency and
• Skin: look for signs of infection such as cellulitis, boils,
abscesses and fungal infections, paying particular attention
to the feet (see later). Look for signs of insulin resistance
such as acanthosis nigricans (Fig. 10.15A). Necrobiosis
lipoidica, a yellow, indurated or ulcerated area surrounded
by a red margin indicating collagen degeneration (Fig.
10.15B), may occur on the shins in type 1 diabetes and
often causes chronic ulceration.
• Look for xanthelasmata and xanthomata (Fig. 10.15C; see
Fig. 4.6); these are suggestive of dyslipidaemia, which may
• Measure the pulse and blood pressure, and examine the
cardiovascular and peripheral vascular systems, with a
particular emphasis on arterial pulses in the feet (p. 69).
• Examine the central nervous system, with a particular
focus on sensation in the lower limbs (p. 143).
• Test visual acuity and perform fundoscopy (p. 164; see
• Perform urinalysis for glycosuria.
Microvascular, neuropathic and macrovascular complications
of hyperglycaemia can occur in patients with any type of diabetes
mellitus, and may be present at diagnosis in patients with
Glycosuria is in keeping with diabetes; the presence of urinary
(or blood) ketones suggests insulin deficiency and the possibility
of diabetic ketoacidosis. Other investigations to consider are
In established diabetes, vital aspects of the history (Box
10.6) and examination should be reviewed at least once
The physical examination will differ, depending on whether this
is a new presentation of diabetes or a patient with established
diabetes attending for their annual review.
10.6 Routine history taking as part of the annual
• Ask about frequency of blood glucose testing and frequency and
awareness of symptoms of hypoglycaemia
• When relevant, give guidance on driving and/or pre-pregnancy
• Enquire about any lumpiness (lipohypertrophy), bruising or
Symptoms of macrovascular disease
• Ask whether there has been any angina, myocardial infarction,
claudication, stroke or transient ischaemic attack since the last
Symptoms of microvascular disease
• Ask whether there has been any change in vision or any numbness
or altered sensation in the feet
• Ask about neuropathy and peripheral vascular symptoms as above
• Enquire about any breaks in the skin, infections or ulcers
• Enquire about erectile dysfunction in men
• Ask about postural hypotension, sweating, diarrhoea and vomiting in
10.5 Causes of secondary diabetesa
Cause of diabetes Examples Clinical features
Pancreatic disease Pancreatitis Abdominal pain
Trauma/pancreatectomy Surgical scar
Cystic fibrosis Chronic cough, purulent sputum
Haemochromatosis Skin pigmentation (‘bronze diabetes’)
Endocrinopathies Acromegaly, Cushing’s syndrome p. 202
Drugs Glucocorticoids (e.g. prednisolone)
Antipsychotics (e.g. olanzapine)
Features of Cushing’s syndrome (see Fig. 10.11)
Immunosuppressants (e.g. ciclosporin, tacrolimus) Gum hypertrophy may be seen with ciclosporin use
Pregnancy Gestational diabetes may develop in the third trimester Gravid uterus
Glucokinase deficiency Glucokinase deficiency is present from birth with
Based on classification by the American Diabetes Association.
The physical examination • 207
Up to 40% of people with diabetes have peripheral neuropathy and
40% have peripheral vascular disease, both of which contribute
to a 15% lifetime risk of foot ulcers (Fig. 10.16).
Early recognition of the ‘at-risk’ foot is essential. There are
• Neuropathic: neuropathy predominates but the major
• Neuroischaemic: reduced arterial supply produces
ischaemia and exacerbates neuropathy.
Infection may complicate both presentations.
• Look for hair loss and nail dystrophy.
• Examine the skin (including the interdigital clefts) for
excessive callus, skin breaks, infections and ulcers. Look
for any discoloration. Distal pallor can suggest early
ischaemia, while purple/black discoloration suggests
• Ask the patient to stand so that you can assess the foot
arch; look for deformation of the joints of the feet.
• Feel the temperature of the feet.
• Examine the dorsalis pedis and posterior tibial pulses. If
absent, arrange Doppler studies and evaluate the
ankle:brachial pressure index (p. 69).
• Test for peripheral neuropathy: use a 10-g monofilament
to apply a standard, reproducible stimulus. The technique
Routine review of a patient with diabetes
• Weigh the patient: weight gain in type 2 diabetes is likely
to be associated with worsening insulin resistance while
weight loss in type 1 diabetes often suggests poor
glycaemic control and inadequate insulin dosage.
• For patients on insulin, examine insulin injection sites for
evidence of lipohypertrophy (which may cause
unpredictable insulin release), lipoatrophy (rare) or signs of
• Measure the pulse and blood pressure.
• Test visual acuity and perform fundoscopy (p. 164; see
• Examine the feet (see the next section).
• Perform routine biochemical screening (Box 10.7).
Fig. 10.15 Diabetes and the skin. A Acanthosis nigricans.
B Necrobiosis lipoidica. C Eruptive xanthomata.
10.7 Investigations in diabetes
Investigation Indication/comment
To make a diagnosis of diabetes.
Patients will also monitor capillary blood
glucose to adjust their treatment
HbA1c Can be used for diagnosis of type 2
diabetes and to assess glycaemic burden
Ketones suggest insulin deficiency,
which occurs in type 1 diabetes and in
diabetes due to pancreatic pathology
To confirm a diagnosis of autoimmune
HbA1c An important measure of glycaemic
control over the preceding 3 months;
predicts risk of complications
Urea and electrolytes To assess for the presence of diabetic
Lipid profile To aid estimation of cardiovascular risk
and guide treatment with lipid-lowering
Thyroid function tests To screen for the commonly associated
To assess for early signs of diabetic
nephropathy (microalbuminuria)
To screen for diabetic retinopathy and/or
GAD, glutamic acid decarboxylase.
and the best sites to test are shown in Fig. 10.17. Avoid
areas of untreated callus. Sensory loss typically occurs in
• Assess dorsal column function by testing vibration and
• Undertake a foot risk assessment to guide management
Hair loss and nail dystrophy occur with ischaemia. Feet are
warm in neuropathy and cold in ischaemia. Ischaemic ulcers are
typically found distally: at the tips of toes (see Fig. 10.16B), for
example. There may be skin fissures or tinea infection (‘athlete’s
foot’). Loss of sensation to vibration (p. 143) and proprioception
(p. 144) are early signs of diabetic peripheral neuropathy. Sensory
neuropathy is present if the patient cannot feel the monofilament
on the sites shown in Fig. 10.17. This suggests loss of protective
pain sensation and is a good predictor of future ulceration.
With significant neuropathy, the foot arch may be excessive or
collapsed (rocker-bottom sole). Both conditions cause abnormal
pressures and increase the risk of plantar ulceration (see Fig.
10.16C), particularly in the forefoot. Charcot’s arthropathy is
disorganised foot architecture, acute inflammation, fracture and
bone thinning in a patient with neuropathy. It presents acutely
as a hot, red, swollen foot and is often difficult to distinguish
10.8 Risk assessment of the diabetic foot
Level of risk Definition Action required
High Previous ulceration or amputation, or more than one risk factor
Annual screening should be undertaken by a specialist
Active foot disease Ulceration, spreading infection, critical ischaemia or an
unexplained red, hot, swollen foot
Prompt referral to a multidisciplinary diabetic foot team is
Fig. 10.16 Diabetic foot complications. A Infected foot ulcer with
cellulitis and ascending lymphangitis. B Ischaemic foot: digital gangrene.
C Charcot arthropathy with plantar ulcer.
Fig. 10.17 Monofilament sensory testing of the diabetic foot.
A Apply sufficient force to allow the filament to bend. B Sites at highest
risk (toes and metatarsal heads).
The physical examination • 209
Please examine her thyroid status
• Introduce yourself and clean your hands.
• Palpate the pulse for bounding pulse, tachycardia and atrial fibrillation.
• Test eye movements for ophthalmoplegia and lid lag.
• Auscultate any goitre for bruit.
• Examine the shins for pretibial myxoedema and test for hyper-reflexia.
• Thank the patient and clean your hands.
These findings suggest autoimmune thyrotoxicosis (Graves’ disease).
Thyroid function tests, thyroid receptor autoantibodies and thyroid scintigraphy.
Mr Birnam, 67 years old, has type 2 diabetes and presents with pain in his lower limbs.
• Introduce yourself and clean your hands.
• Inspect the skin for excessive callus, infections and ulcers.
• Palpate the feet to assess the temperature of the skin.
• Palpate the dorsalis pedis and posterior tibial pulses.
• Test for peripheral neuropathy using a 10-g monofilament and tuning fork.
• Thank the patient and clean your hands.
Doppler studies to evaluate the ankle : brachial pressure index. Review of diabetes control.
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