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214 • THEEAR,NOSEANDTHROAT
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A
CD
B
Fig. 9.27 Disorders of the tongue and teeth. A Oral thrush. B Leukoplakia. C Aphthous stomatitis causing a deep ulcer in a patient with inflammatory
bowel disease.
Macroglossia (enlarged tongue) occurs in Down’s syndrome,
acromegaly (see Fig. 10.9), hypothyroidism and amyloidosis.
Wasting and fasciculation of the tongue are features of motor
neuron disease.
White plaques of candidiasis on the tongue or mucosa
(Fig. 9.27A) come away easily when scraped but leukoplakia (a
keratotic precancerous condition) does not and requires excision
biopsy (see Fig. 9.27B). Cancers (usually squamous) may occur
at any site in the mouth. Any painless persistent mass in the
mouth should be assumed to be oral cancer and referred urgently for biopsy. Similarly, any mouth ulcer persisting for over
3 weeks requires biopsy to exclude cancer (see Fig. 9.27C).
A stone may be felt in the submandibular (or, rarely, the parotid) duct. Rotten teeth (dental caries) are common in patients
with poor oral hygiene (see Fig. 9.27D).
Neck
The neck must be examined in all patients with mouth or throat
symptoms, or a neck mass.
D Dental caries. (B) From Bull TR. Color Atlas of ENT Diagnosis. 3rd edn. London: Mosby–Wolfe; 1995.
• From behind, palpate the neck. Work systematically around
the neck. Start in the midline and gently palpate the submental, submandibular and preauricular areas, assessing for
the presence of any masses or swelling. Then palpate down
the anterior border of the sternocleidomastoid muscle to the
midline inferiorly.
• Palpate the midline structures of the neck from inferior to
superior up to the submental area, noting any masses.
• If a midline mass is present, ask the patient to swallow (offer a
glass of water if needed) and then instruct them to stick out
their tongue while you palpate the mass. Movement superiorly on swallowing suggests a thyroid swelling (p. 224), while
movement on tongue protrusion suggests a thyroglossal cyst
(Fig. 9.28).
• Palpate the posterior triangle of the neck, including the pos-
terior border of sternocleidomastoid and anterior border of
trapezius. Palpate for occipital lymph nodes posteriorly.
• For any mass, note the size, site, consistency, edge, fixation
to deeper structures, tethering to the skin, warmth, fluctuance, pulsatility and transillumination (p. 35).
Examination sequence (Video 20)
• With the patient sitting down and their neck fully exposed (ties
and scarves removed and shirt unbuttoned), look at their
neck from in front. Inspect for scars, masses or pulsation.
Investigations
Initial investigations are summarised in Box 9.11.
Fig. 9.28 Thyroglossal cyst.
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Investigations • 215
9.11 Mouth, throat and neck investigations
Investigation Indication/comment
Full blood count Infective causes of mouth, throat or neck
Monospot Infectious mononucleosis
Throat swab Acute tonsillitis and pharyngitis
Endoscopy and biopsy Cancer of larynx and pharynx, changes in vocal
Ultrasound Æ fineneedle aspiration
Computed tomography Cancer and metastases
PCR, Polymerase chain reaction.
symptoms
Hepatosplenomegaly can occur in infectious
mononucleosis so liver function tests can be
useful
Patients may carry Streptococcus pyogenes
and have a viral infection (detected by PCR), so
swab does not always help direct management
PCR may help identify viral causes
cords
Under general anaesthetic
Neck lumps, swellings
Useful in staging
9
OSCE Example 1: Hoarseness
Mr Smith, 65 years old, presents with hoarseness.
Please take a history from the patient
• Introduce yourself and clean your hands.
• Invite the patient to describe the presenting symptoms, using open questioning.
• Take a detailed history of the presenting symptoms, asking specifically about onset, progression, fluctuation or constancy, provoking factors (work, singing,
shouting) and weak or croaky voice. Enquire about associated cough, shortness of breath, throat pain, ear pain, dysphagia or weight loss.
• Ask about relevant history, including previous neck surgery, neck trauma, prolonged intubation, reflux disease and significant systemic conditions,
including neurological problems.
• Enquire about drug history: specifically, recent courses of antibiotics (laryngeal candidiasis), anticholinergics (causing dry throat) or angiotensin-converting
enzyme inhibitors (causing chronic dry cough).
• Ask about social history, including profession (singer, teacher), smoking and alcohol consumption.
• Address any patient concerns.
• Thank the patient and clean your hands.
Summarise your findings
The patient is a heavy smoker and reports slowly progressive hoarseness associated with breathlessness and a dry cough.
Suggest a diagnosis
This history suggests recurrent laryngeal nerve damage from a bronchial carcinoma. The differential diagnosis would include laryngeal carcinoma.
Suggest initial investigations
Full ear, nose and throat examination, including oral cavity, throat and neck, with a chest x-ray to exclude a bronchial carcinoma at the left hilum causing
recurrent laryngeal nerve palsy. Persistent hoarseness (>3 weeks) requires referral for laryngoscopy to exclude laryngeal malignancy.
216 • THEEAR,NOSEANDTHROAT
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OSCE Example 2: Neck lump
Mrs. Lee, 55 years old, presents with a lump just under her left ear at the angle of her jaw.
Please examine her neck lump
• Introduce yourself and clean your hands.
• Inspect the neck for scars or swelling. If a neck lump is visible, describe its size, shape and site, as well as any skin changes. If it is in the midline, ask the
patient to swallow and stick out their tongue.
• Ask if the lump is painful and if the patient minds you examining it.
• Palpate the lump to assess consistency, edge, fixation to deeper structures, tethering to the skin, warmth, fluctuance, pulsatility and transillumination.
• Palpate the anterior and posterior triangles of the neck, and the parotid region.
• Examine the oral cavity, throat, nose and ears (as potential primary sites of infection or malignancy that might be causing the neck mass).
• Assess facial nerve function if you suspect a parotid mass.
• Thank the patient and clean your hands.
Summarise your findings
Examination confirms a firm, non-tender, mobile lump about 1 cm in diameter behind the angle of the jaw on the left.
Suggest a diagnosis
The most likely diagnosis is a pleomorphic salivary adenoma in the tail of the parotid.
Suggest investigations
Ultrasound scan with or without fine-needle aspiration.
Integrated examination sequence for ear, nose and throat disease
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• Position the patient: on an examination couch with the upper body at 45 degrees and neck fully exposed.
• Examine the ears:
–
Inspect: pinna skin, shape, size, position, deformity, scars.
– Palpate: pinna, tragus, mastoid.
– Otoscopy: external auditory canal (swelling, discharge), tympanic membrane (red, perforated).
– If there is hearing loss: whispered voice test and tuning fork tests.
– If there are balance symptoms: vestibular examination, including Dix–Hallpike.
• Examine the nose:
• Inspect:
–
External nose (swelling, bruising, skin changes, deformity).
– Anterior nasal septum (swelling, visible vessels, crusting ulceration, septal perforation). Exclude septal haematoma in nasal trauma.
– Inferior turbinates (hypertrophy, swelling, polyps).
• Palpate:
–
Nasal bones (bony or cartilaginous deformity).
– Airway patency using metal spatula.
• Examine the mouth and throat:
• Listen to the voice (rough, breathy, wet, muffled, nasal escape).
• Remove any dentures.
• Inspect:
–
Oral cavity, oropharynx.
– Mucosal discoloration, inflammation, ulceration, masses, opening of parotid and submandibular ducts.
– Hard palate for cleft, abnormal arched palate, telangiectasia.
– Soft palate for cleft, bifid uvula, swelling or lesions.
– Tonsils, noting size, symmetry, colour, pus or membrane.
• Palpate:
–
Any lesion, identifying characteristics.
– Base of tongue or tonsils if asymmetrical.
– Parotid and submandibular ducts, feeling for stones.
• Examine the neck:
• Inspect:
– Scars, skin changes.
– If there is midline swelling, ask the patient to swallow and stick out their tongue.
• Palpate:
Anterior and posterior triangles of the neck and parotid region.
–
– If there is a neck lump, note size, site, shape, consistency, edges, attachments, tenderness, warmth, pulsatility, transillumination.
– If there is a parotid lump, assess the facial nerve.
Investigations • 217
9
Anna R Dover
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Nicola Zammitt
10
The endocrine system
The thyroid 220
Anatomy and physiology 220
The history 222
Common presenting symptoms 222
Past medical, drug, family and social history 222
The physical examination 222
General examination 222
Thyroid gland 224
Eyes 225
The parathyroids 225
Anatomy and physiology 225
The history 225
Common presenting symptoms 225
Past medical, drug, family and social history 226
The physical examination 226
The pituitary 226
Anatomy and physiology 226
The history 226
Common presenting symptoms 226
Family history 227
The physical examination 227
The adrenals 228
Anatomy and physiology 228
The history 228
Common presenting symptoms 228
Past medical and drug history 231
The physical examination 231
The gonads 231
Anatomy and physiology 231
Common presenting symptoms and signs 231
Diabetes 232
Anatomy and physiology 232
The history 233
Common presenting symptoms 233
Past medical, drug, family and social history 234
The physical examination 234
OSCE example 1: Neck swelling 238
OSCE example 2: The diabetic foot 238
220 • THE ENDOCRINE SYSTEM
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Endocrine glands synthesise hormones that are released into the
circulation and act at distant sites. Diseases may result from
excessive or inadequate hormone production, target organ hypersensitivity or resistance to the hormone. The main endocrine
glands are the pituitary, thyroid, adrenals, gonads (testes and
ovaries), parathyroids and the endocrine pancreas. With the
notable exception of the pancreatic islet cells (which release insulin) and the parathyroids, most endocrine glands are themselves controlled by hormones released from the pituitary.
Since hormones circulate throughout the body, symptoms
and signs of endocrine disease are frequently non-specific,
THE THYROID
Anatomy and physiology
The thyroid is a butterfly-shaped gland that lies inferior to the
cricoid cartilage, approximately 4 cm below the superior notch of
the thyroid cartilage (Fig. 10.1A). The normal thyroid has a volume of less than 20 mL and is palpable in about 50% of women
and 25% of men. It features a central isthmus approximately
1.5 cm wide, overlying the second to fourth tracheal rings, and
two lateral lobes that are usually no larger than the distal phalanx
of the patient’s thumb. The thyroid may extend into the superior
mediastinum and can be partly or entirely retrosternal. Rarely, it is
located along the line of the thyroglossal duct, along which the
embryological thyroid descends from the base of the tongue to
its final position. Thyroglossal cysts can also arise from the
affecting many body systems (Box 10.1). Often, endocrine disease is picked up incidentally during biochemical testing or
radiological imaging. Careful history taking and examination are
required to recognise characteristic patterns of disease. Thyroid
disease and diabetes mellitus are common and frequently familial; establishing a detailed family history is therefore important.
Some less common endocrine disorders (such as multiple
endocrine neoplasia) show an autosomal dominant pattern of
inheritance.
thyroglossal duct, often at the level of the hyoid bone
(Fig. 10.1A); these characteristically move upwards on tongue
protrusion. The thyroid is attached to the pretracheal fascia and
thus moves superiorly on swallowing or neck extension.
Thyrotoxicosis is a clinical state of increased metabolism
caused by elevated circulating levels of thyroid hormones.
Graves’ disease is the most common cause (Fig. 10.2 and
Box 10.2). It is an autoimmune condition with a familial compo-
nent and is 5–10 times more common in women, usually presenting between 30 and 60 years of age. Other causes include
toxic multinodular goitre, solitary toxic nodule, thyroiditis and
excessive thyroid hormone ingestion.
Hypothyroidism is caused by reduced levels of thyroid hormones, usually due to autoimmune Hashimoto’s thyroiditis, and
10.1 Common clinical features in endocrine disease
Symptom, sign or problem Differential diagnoses
Tiredness Hypothyroidism, hyperthyroidism, diabetes mellitus, hypopituitarism
Weight gain Hypothyroidism, PCOS, Cushing’s syndrome
Weight loss Hyperthyroidism, diabetes mellitus, adrenal insufficiency
Diarrhoea Hyperthyroidism, gastrin-producing tumour, carcinoid
Diffuse neck swelling Simple goitre, Graves’ disease, Hashimoto’s thyroiditis
Polyuria and excessive thirst Diabetes mellitus, diabetes insipidus, hyperparathyroidism, Conn’s syndrome
Hirsutism Idiopathic, PCOS, congenital adrenal hyperplasia, Cushing’s syndrome
‘Funny turns’ Hypoglycaemia, phaeochromocytoma, neuroendocrine tumour
Sweating Hyperthyroidism, hypogonadism, acromegaly, phaeochromocytoma
Flushing Hypogonadism (especially menopause), carcinoid syndrome
Resistant hypertension Conn’s syndrome, Cushing’s syndrome, phaeochromocytoma, acromegaly
Amenorrhoea/oligomenorrhoea PCOS, hyperprolactinaemia, thyroid dysfunction
Erectile dysfunction Primary or secondary hypogonadism, diabetes mellitus, non-endocrine systemic disease, medication-
Muscle weakness Cushing’s syndrome, hyperthyroidism, hyperparathyroidism, osteomalacia
Bone fragility and fractures Hypogonadism, hyperthyroidism, Cushing’s syndrome, primary hyperparathyroidism
PCOS, Polycystic ovary syndrome.
induced (e.g. beta-blockers, opiates)
Hyoid bone
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Anatomy and physiology • 221
Sternocleidomastoid
Cricothyroid membrane
Lobe of thyroid gland
Isthmus of thyroid gland
Manubrium of the sternum
muscle
Thyroid cartilage
Cricoid cartilage
Parathyroid
Trachea
A
B
Fig. 10.1 The thyroid gland. A Anatomy of the gland and surrounding structures. B Palpating the thyroid gland from behind.
10
A
C
Fig. 10.2 Graves’ hyperthyroidism. A Typical facies. B Severe inflammatory thyroid eye disease. C Thyroid acropachy. D Pretibial myxoedema. (A) From
Strachan MWJ, Newell Price JDC. Endocrinology. In Ralston S, Penman I, Strachan MWJ, et al. (eds). Davidson’s Principles and Practice of Medicine. 23rd ed.
Philadelphia: Elsevier; 2018.
B
D
222 • THE ENDOCRINE SYSTEM
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10.2 Features suggestive of Graves’ hyperthyroidism
History
• Female sex
• Family history of thyroid or other autoimmune disease
• Ocular symptoms (‘grittiness’, redness, pain, periorbital swelling)
Physical examination
• Vitiligo
• Thyroid acropachy
• Diffuse thyroid enlargement (can be nodular)
• Thyroid bruit
• Pretibial myxoedema
• Signs of Graves’ ophthalmopathy (proptosis, redness, oedema)
affects women approximately six times more commonly than
men. Most other causes are iatrogenic and include previous
radioiodine therapy or surgery for Graves’ disease.
The history
Common presenting symptom s
Neck swelling
Goitre is an enlargement of the thyroid gland (Fig. 10.3). It is not
necessarily associated with thyroid dysfunction; indeed, most
patients with goitre are euthyroid. Large, or retrosternal, goitres
may compress adjacent structures, causing stridor, breathlessness or dysphagia.
Thyroid enlargement can be due to diffuse goitre, multinodular
goitre or a solitary nodule (Box 10.3). Thyroid nodules may be
solitary (see Fig. 10.3C) or may be present as a dominant nodule
within a multinodular gland. Palpable nodules (usually >2cmin
diameter) occur in up to 5% of women and less commonly in
men, although up to 50% of patients have occult nodules; thus
many are found incidentally on neck or chest imaging.
• dyspnoea, palpitations, ankle swelling
• weight loss, hyperphagia, faecal frequency, diarrhoea
• proximal muscle weakness (difficulty rising from sitting or
bathing)
• oligomenorrhoea or amenorrhoea (infrequent or ceased
menses, respectively)
• eye symptoms: ‘grittiness’, excessive tearing, retroorbital
pain, eyelid swelling or erythema, blurred vision or diplopia
(these symptoms of ophthalmopathy occur in the setting of
autoimmune thyroid disease)
History suggesting hypothyroidism
Ask about:
• fatigue, mental slowing, depression
• cold intolerance
• weight gain, constipation
• symptoms of carpal tunnel syndrome
• dry skin or hair
Past medical, drug, family and social history
Ask about:
• prior neck irradiation (risk factor for thyroid malignancy)
• recent pregnancy (postpartum thyroiditis usually occurs in the
first 12 months)
• drug therapy: antithyroid drugs or radioiodine therapy;
amiodarone and lithium can cause thyroid dysfunction
• family history of thyroid or other autoimmune disease
• residence in an area of iodine deficiency, such as the Andes,
Himalayas, Central Africa: can cause goitre and, rarely,
hypothyroidism
• smoking (increases the risk of Graves’ ophthalmopathy).
The physical examination
General examination
Neck pain
Neck pain is uncommon in thyroid disease and, if sudden in
onset and associated with thyroid enlargement, may represent
bleeding into an existing thyroid nodule. Pain can also occur in
viral subacute (de Quervain’s) thyroiditis.
History suggesting hyperthyroidism
Ask about:
• fatigue, poor sleep
• tremor, heat intolerance, excessive sweating (hyperhidrosis)
• pruritus (itch), onycholysis (loosening of the nails from the nail
bed), hair loss
• irritability, anxiety, emotional lability
Look for signs of weight loss or gain (calculate the body mass
index), and assess the patient’s behaviour for signs of agitation,
restlessness, apathy or slowed movements. Patients may have
abnormal speech (pressure of speech suggests hyperthyroidism,
while speech is often slow and deep in hypothyroidism).
Hoarseness suggests vocal cord paralysis and should raise
suspicion of thyroid malignancy.
Features of hyperthyroidism and hypothyroidism on examination are summarised in Fig. 10.4. A patient with hyperthyroidism may have warm, moist skin, proximal muscle weakness
(due to a catabolic energy state), tremor and brisk deep tendon
reflexes. Hyperthyroidism may also be associated with tachycardia or atrial fibrillation, and a midsystolic cardiac flow murmur
due to increased cardiac output.
Dermopathy is an uncommon autoimmune extrathyroidal
manifestation of Graves’ disease. It occurs most commonly as
The physical examination • 223
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B
A
C
Fig. 10.3 Thyroid enlargement. A
C Solitary toxic nodule. D
disease.
99m
Technetium radionuclide scan demonstrating diffuse goitre due to Graves’ disease. B Diffuse goitre due to Graves’
99m
Technetium radionuclide scan confirming multinodular goitre. (A and D) Courtesy Dr Dilip Patel.
D
10.3 Causes of thyroid enlargement
Type of enlargement Associated clinical features
Diffuse goitre
Simple/physiological (puberty, pregnancy) Soft, symmetrical, non-tender
Graves’ disease Hyperthyroidism, ophthalmopathy, pretibial myxoedema
Thyroiditis (Hashimoto’s, subacute) Hypothyroidism with Hashimoto’s, tender goitre with hypo- or hyperthyroidism in subacute
Drugs (lithium, amiodarone, iodine) Relevant drug history
Iodine deficiency (endemic goitre) Particularly in mountainous regions
Infiltrative (amyloidosis, sarcoidosis, tuberculosis) May be tender, other features of systemic disease
Dyshormonogenesis (e.g. Pendred’s syndrome) Congenital hypothyroidism, sensorineural deafness (Pendred’s)
Multinodular goitre Multiple nodules palpable or on scan
Solitary nodule
Dominant nodule in a multinodular goitre Distinguishing these may require ultrasound and/or fine needle aspiration
Colloid cyst
Hyperplastic nodule
Follicular adenoma
Thyroid carcinoma (papillary, follicular, medullary, anaplastic) May be fixed, with vocal cord involvement and/or lymph nodes
Lymphoma Lymphadenopathy
Metastasis Other clinical evidence of malignancy
10
224 • THE ENDOCRINE SYSTEM
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Hyperthyroidism
ophthalmoplegia
(in Graves’ disease)
Graves’ disease)
Oligomenorrhoea
(in Graves’ disease)
General
increased appetite
Hypothyroidism
Periorbital
oedema
Husky voice
Goitre
Bradycardia
Carpal tunnel
syndrome
Menorrhagia
Constipation
General
Fig. 10.4 Features of hyper- and hypothyroidism.
pretibial myxoedema: a raised, discoloured (usually pink or
brown), indurated appearance over the anterior shins; despite its
name, it is specifically associated with Graves’ disease and not
hypothyroidism (see Fig. 10.2D). A less common extrathyroidal
manifestation of Graves’ disease is thyroid acropachy, a soft
tissue swelling and periosteal hypertrophy of the distal phalanges
which mimics finger clubbing (see Fig. 10.2C). It is almost always
associated with dermopathy and ophthalmopathy.
Many clinical features of hypothyroidism are produced by
myxoedema (non-pitting oedema caused by tissue infiltration by
mucopolysaccharides, chondroitin and hyaluronic acid;
Figs. 10.4 and 10.5). Other common findings in hypothyroidism
include goitre, cool, dry or coarse skin, bradycardia, delayed
ankle reflexes and a slowing of movement.
Examination sequence
• Observe the facial appearance, noting dry or coarse hair and
periorbital puffiness (see Fig. 10.5).
• Inspect the hands for vitiligo, thyroid acropachy (see
Fig. 10.2C), onycholysis and palmar erythema.
• Assess the pulse (tachycardia, atrial fibrillation, bradycardia)
and blood pressure.
Fig. 10.5 Typical facies in hypothyroidism.
• Ask the patient to extend their arms. Inspect for a fine tremor
due to sympathetic overactivity; laying a sheet of paper over
the patient’s fingers may improve detection.
• Auscultate the heart for a midsystolic flow murmur
(hyperthyroidism).
• Inspect the limbs for coarse, dry skin or pretibial myxoedema
(see Fig. 10.2D).
• Assess proximal muscle power and deep tendon (ankle) re-
flexes (p. 155).
Thyroid gland
Examination sequence (Video 21)
• Inspect the neck from the front, noting any asymmetry or
scars. Inspect the thyroid from the side with the patient’s
neck slightly extended. Extending the neck will cause the
thyroid (and trachea) to rise by a few centimetres and may
make the gland more apparent. Give the patient a glass of
water and ask them to take a sip and then swallow. The
thyroid rises with the trachea on swallowing.
• Palpate the thyroid by placing your hands gently on the front
of the neck with your index fingers just touching, while
standing behind the patient (see Fig. 10.1B). The patient’s
neck should be slightly flexed to relax the sternocleidomastoid muscles. Ask the patient to swallow again and feel the
gland as it moves upwards.
• Note the size, shape and consistency of any goitre and feel
for any thrill.
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