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18
Sexually transmitted infections
Figure 18.12 Oral candidiasis.
Figure 18.14 Cerebral toxoplasmosis.
Figure 18.13 Kaposi sarcoma.
of the tongue. Bacterial pneumonia becomes more
common, presenting with fever, a productive
cough, dyspnoea and typical radiographic features.
PLWH are more likely to acquire or reactivate
Mycobacterium tuberculosis (TB). Pulmonary
Mycobacterium tuberculosis is the most common
presentation, although atypical presentations and
multisystem involvement are also seen. The typical
presentation of recurrent fever, weight loss, night
sweats and lymphadenopathy is equally suggestive
of lymphoma, so investigations should exclude both
diagnoses. HIV has a cytotoxic effect on the gut,
which may lead to HIV enteropathy, and it presents
with chronic diarrhoea and weight loss. HIV also
has a cytotoxic effect on the kidney, leading to HIV
nephropathy and renal failure.
As the CD4 count falls below 200 cells/mm3
many more of the classic AIDS- defining illnesses
arise. General examination may reveal severe
weight loss and cachexia and Kaposi sarcoma
(KS) (Fig. 18.13). KS, which is caused by human
herpesvirus 8 (HHV- 8), presents with purple
or brown macules on the skin and oral mucosa
that are not typically pruritic or painful. An
affected soft palate is a strong indicator of visceral
involvement. Pneumocystis jirovecii (formerly P.
carinii) pneumonia can present with progressive
exertional dyspnoea and a dry cough, with or
without fever. The patient often has an increased
respiratory rate and will desaturate on exertion;
however, respiratory examination findings can be
subtle. Disseminated histoplasmosis may appear
and is acquired abroad, so country of birth and lifetime travel history will be relevant.
Neurological complications of HIV are varied.
Intracranial infections may present atypically,
particularly in severe immunosuppression. Crosssectional imaging of the central nervous system
(CNS) and lumbar puncture (LP) for cerebrospinal
fluid (CSF) analysis is recommended. Cryptococcal
meningitis is caused by Cryptococcus neoformans and
typically presents with headache and fever. LP often
has raised opening pressure and a positive CSF India
ink and cryptococcal antigen (CrAg) is diagnostic.
CNS space- occupying lesions generally present
with focal neurological signs or seizures. Cerebral
toxoplasmosis abscesses arise from reactivation of
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401
chronic infection with Toxoplasma gondii. The classic
appearance of multiple ring- enhancing lesions on
MRI of the brain is usually sufficient to commence
empirical therapy (Fig. 18.14). Differential diagnosis
includes primary cerebral lymphoma, tuberculoma
or bacterial abscess.
Peripheral neuropathy, HIV encephalopathy
(HIVE) and HIV- associated dementia (HAND)
are more common in older PLWH. They are also
a result of HIV cytotoxicity. Neuropathy presents
with symmetrical distal numbness and allodynia of
the lower limbs. On examination strength is usually
preserved and reflexes are depressed or absent and
there is impaired sensation to pain and temperature.
HIVE/HAND can result in poor concentration,
depression, memory loss, personality changes and
language impairment. Examination may reveal
impaired saccadic eye movements, generalized
hyperreflexia and tremor. MRI may show cerebral
atrophy and diffuse white matter signal change
or could be normal. Other causes of abnormal
neurology and white matter change in advanced
immunosuppression include progressive multifocal
encephalopathy (PML) and CMV encephalitis.
Oral candidiasis may involve the oesophagus;
it presents with painful and difficult swallowing.
The differential diagnoses include HSV and CMV
oesophagitis. CMV, Cryptosporidium, Isospora,
Cyclospora and Microsporidium are important causes
of diarrhoea in advanced immunosuppression.
Severely immunocompromised patients presenting
with floaters, an increasing blind spot, visual blurring
or sudden visual loss in one or both eyes may have
sight- threatening retinitis caused by CMV, varicella
zoster virus (VZV) or toxoplasmosis. Fundoscopy is
obligatory. In CMV retinitis multiple granular white
dots with haemorrhages are seen.
Disseminated Mycobacterium avium complex
(DMAC) infection also occurs in severe
immunosuppression; it often presents with nonspecific features, including diarrhoea, weight loss,
anorexia and hepatomegaly. Mycobacterial blood
and/or bone marrow cultures are useful in aiding the
diagnosis.
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BASIC SYSTEMS
Endocrine and metabolic
Tahseen A. Chowdhury and William M. Drake
Introduction
The endocrine system is composed of the classic
endocrine organs:
Hypothalamus/pituitary
Thyroid
Parathyroid
Adrenal
Pancreatic islet cells
Gonads
The mode of presentation of endocrine disorders
does not fit neatly into a system- based model, the
symptoms rarely being specific to a particular
system. Frequently, endocrine disease is suggested by
a constellation of non- specific symptoms.
The endocrine history
As in other systems, the history consists of presenting
symptoms, the history of the development of the
illness and the family history.
Presenting symptoms
A number of symptom complexes particularly
suggests endocrine disease.
Thirst and polyuria
Excessive thirst (polydipsia) and increased urine
output (polyuria) are important symptoms for
which careful history taking is crucial for accurate
diagnosis. The word ‘excessive’ appears in almost
all dictionary definitions of polydipsia and polyuria,
but no accepted number of episodes of fluid intake
or excretion indicate a definite abnormality, largely
because individual habitual fluid intake is so variable
in health. If the symptoms form the basis of a patient’s
complaint, they require careful and sympathetic
evaluation. Polyuria and polydipsia are common
presenting symptoms of diabetes mellitus; these
are discussed in detail below. These symptoms may
also be caused by impairment of renal concentrating
capacity as a result of a deficiency of antidiuretic
hormone (ADH) or a failure of ADH action (cranial
and nephrogenic diabetes insipidus, respectively).
The latter may be inherited or may occur secondary
disorders
to impairment of ADH action by hypercalcaemia
or hypokalaemia. An important distinction must be
made between frequency of urination and polyuria.
Prostatic enlargement in men and childbirth- related
pelvic damage in women are common causes of
frequent urination, but in these situations the
volumes of urine passed will usually be small and
the symptoms will not be accompanied by thirst.
Nocturia (the passage of urine during conventional
sleeping hours) is common in men with prostatic
enlargement, but is not accompanied by thirst;
indeed, most men will make conscious efforts to
restrict evening fluid intake in an attempt to reduce
nocturia with its associated fatigue. In contrast, a
patient with diabetes insipidus, characteristically,
will take at least a glass, often a whole bottle, of
water to bed in order to quench his nocturnal thirst.
Probing the details of nocturnal symptoms is also
useful in distinguishing the reported polydipsia and
polyuria caused by increased fluid intake, which at
its most extreme may be vastly excessive (primary,
sometimes referred to as psychogenic, polydipsia). In
general, nocturnal polyuria is not a feature of primary
polydipsia, because the capacity of the pituitary to
release ADH and of the kidney to respond to it are
not disturbed. In contrast, it is often the nocturia
and the associated urge to drink that most disturb
patients with diabetes insipidus. However, this is not
an absolute distinction and further investigation of
urine concentrating capacity is sometimes required.
19
Weight loss
Loss of weight is a feature of decreased food intake
or increased metabolic rate. Sometimes both factors
may operate to reduce body weight, as in the
cachexia of malignant disease. Thyroid overactivity
(hyperthyroidism) is nearly always associated with
a combination of unintentional or effortless weight
loss and increased appetite, although occasionally
the latter may be stimulated more than the former
so that a paradoxical increase in weight occurs.
Weight loss is rarely the sole presenting symptom
of hyperthyroidism and other clinical features often
predominate, particularly in younger patients (Box
19.1). In the elderly, however, hyperthyroidism
may be occult or may simulate the gradual weight
loss of malignant disease. Cardiac arrhythmias are a
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Endocrine and metabolic disorders
Box 19.1
Tachycardia
Atrial fibrillation/heart failure
Eye signs
Lid lag
Lid retraction
Exophthalmos (Graves’ disease)
Sweating
Thyroid gland enlargement and bruit (Graves’ disease)
Fine distal tremor
Thinning of hair
Proximal weakness; cannot rise from squat
Chorea
Box 19.2
Hyperthyroidism
Type 1 diabetes mellitus
Hypopituitarism
Adrenocortical failure (Addison’s disease)
Anorexia nervosa
Box 19.3
Simple obesity: energy intake/expenditure imbalance
Primary hypothyroidism
Cushing’s syndrome
Hypothalamic lesions
Leptin deficiency
Clinical features of hyperthyroidism
Endocrine and metabolic diseases in which
weight loss is a clinical feature
Conditions in which increased body weight is a
feature
Box 19.5
Intolerance to cold: hypothyroidism
Intolerance to heat: hyperthyroidism
Box 19.6
Weight gain
Sallow complexion and dry skin
Thinning of scalp and lateral eyebrow hair
Cold intolerance
Deepened, gruff voice
Slow physical and mental activity
Unsteadiness and slightly slurred speech
Tingling in toes and fingers
Aching muscles with cramp
Mild proximal weakness
Slow pulse and shortness of breath
Weight gain is therefore a common feature of
primary hypothyroidism. However, obesity is rarely
a consequence of specific endocrine dysfunction,
an exception being the very rare phenomenon of
leptin deficiency. In the majority of patients, ‘simple
obesity’ is owing to a long- standing imbalance
between energy intake and expenditure; it frequently
begins in childhood and is often present in more than
one family member. Glucocorticoid hormone excess
(Cushing’s syndrome) results in an increase in body
fat predominantly involving abdominal, omental and
interscapular fat (truncal obesity), with paradoxical
thinning of the limbs owing to muscle atrophy.
Conditions in which temperature intolerance is
a feature
Clinical features of hypothyroidism
Box 19.4
Painless
Hyperthyroidism
Cushing’s syndrome, including iatrogenic steroid
Acromegaly
Painful
Vitamin D deficiency
Osteomalacia
Hypothyroidism
frequent feature in the elderly. Anorexia nervosa, a
psychogenic disorder characterized by a long history
of low body weight in the absence of other features
of ill health, must be considered, especially in young
women. Any form of weight loss may be associated
with oligo- amenorrhoea.
Other endocrine conditions in which weight loss is
a major feature are listed in Box 19.2.
Conditions in which metabolic myopathy is a
feature
myopathy
Weight gain or redistribution
An increase in body weight (Box 19.3) is a
predictable result of a reduction in metabolic rate.
Muscle weakness
Symptomatic muscular weakness not caused by
neurological disease is a feature of several metabolic
disorders, including thyrotoxicosis, Cushing’s
syndrome and vitamin D deficiency. In all these
conditions, the metabolic myopathy (Box 19.4)
causes symmetrical proximal weakness, mainly
involving the shoulder and hip girdle musculature.
There is usually associated muscle wasting. The
major reported symptom is difficulty in climbing
stairs, boarding a bus or rising from a sitting
position. Most patients with hyperthyroidism have
proximal weakness. This may be subclinical; it is
best demonstrated by asking the patient to rise from
the squatting position. The proximal myopathy of
vitamin D deficiency is often painful, in contrast to
other causes. The differential diagnosis of painful
proximal muscular weakness includes polymyositis
and polymyalgia rheumatica, as well as spinal root
or plexus disease.
Cold intolerance
An abnormal sensation of cold, out of proportion to
that experienced by other individuals, may indicate
underlying hypothyroidism (Boxes 19.5 and 19.6).
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This symptom differs from the localized vasomotor
symptoms in the hands found in Raynaud’s
phenomenon and is rather non- specific, especially in
the elderly.
Heat intolerance
The increased metabolic rate of thyrotoxicosis may
be associated with heat intolerance in which, at
its most extreme, the patient is comfortable at an
ambient temperature that others find unpleasantly
cold. This is an important symptom, highly specific
for thyroid overactivity, which may partly explain
some of the seasonal variation in presentation of the
condition.
Increased sweating
Hyperhidrosis (excessive sweating) may be a
constitutional abnormality, characterized by onset in
childhood or adolescence and sometimes by a family
history. A recent increase in sweat secretion, on the
other hand, may be an early indication of thyroid
overactivity. Paroxysmal sweating is a common
feature of anxiety. Increased catecholamine secretion
from a phaeochromocytoma of the adrenal medulla
is a rare cause of hyperhidrosis. Intermittent sweating
after meals (gustatory hyperhidrosis) may occur
in patients with autonomic dysfunction. Growth
hormone excess (acromegaly) also increases sweating,
perhaps because of hypertrophy of the sweat glands,
and this feature can be used to assess the activity
of the disease in the clinic. Increased sweating
should be distinguished from flushing that occurs
physiologically at the time of the natural menopause.
Flushing may be a presenting feature of serotoninsecreting carcinoid tumours of the gut and usually
indicates extensive disease with hepatic metastases.
described by the patient as a missed beat, is often
owing to a compensatory pause following an ectopic
beat and is usually a normal phenomenon.
Postural unsteadiness
Dizziness, or a sensation of faintness on standing,
should prompt measurement of lying and standing
blood pressure. Postural hypotension, a fall of
diastolic blood pressure on standing, occurs with
reduced blood volume. In the absence of obvious
bleeding or gastrointestinal fluid loss, adrenal
insufficiency should be considered. Postural
hypotension is frequently caused by autonomic
neuropathy, especially in patients with long- standing
diabetes mellitus. It is also a common complication
of any drug therapy for essential hypertension. The
drug history is particularly important in the elderly
patient with dizziness.
Visual disturbance
Several endocrine conditions may cause visual
symptoms. Blurred vision is common in uncontrolled
hyperglycaemia. Decreased visual acuity may be
caused by space- occupying lesions compressing
the optic nerve. For example, severe dysthyroid
eye disease and orbital or retro- orbital tumours
may present in this way. Bitemporal hemianopia
(bilateral loss of part or all of the temporal fields
of vision), often asymmetrical or incongruous, is a
major feature of suprasellar extension of pituitary
adenomas compressing the optic chiasm, but may
occur in other tumours in this location. Double
vision (diplopia) on lateral or upward gaze often
results from medial or lateral rectus muscle tethering
in dysthyroid eye disease. Apparent magnification of
vision (macropsia) can occur in hypoglycaemia.
Tremor
A fine rapid resting tremor is one of the cardinal
clinical features of thyrotoxicosis. This must be
distinguished from the coarser and more irregular
tremor of anxiety, which is usually associated with a
cool peripheral skin temperature, in contrast to the
warm skin of the thyrotoxic patient. Tremor owing
to neurological disease is greater in amplitude, slower
in rate and may be present at rest, as in Parkinson’s
disease, or on movement, as in cerebellar tremor.
It therefore rarely simulates thyrotoxic tremor.
Essential tremor is not so rapid as thyrotoxic tremor;
it is variable and is worse in certain postures. It often
involves the head and neck.
Palpitations
Palpitations are a heightened, unpleasant awareness
of the heartbeat. They may be a feature of
thyrotoxicosis, but more likely are caused by anxiety.
Awareness of the heartbeat while lying down is
normal. Other causes of rapid heart rate include
paroxysmal tachyarrhythmias. The sensation of
intermittent forceful cardiac contraction, sometimes
Fasting symptoms
Tachycardia, sweating and tremor occurring
intermittently, especially when fasting, are
suggestive of hypoglycaemia. These symptoms
resemble those associated with the increased
sympathetic drive found in states of fear or with
excess secretion of noradrenaline (norepinephrine),
as in phaeochromocytoma. In severe persistent
hypoglycaemia, these symptoms may progress to
decreased consciousness. This is a serious emergency
implying neuroglycopenia sufficient to impair brain
function. Spontaneous or fasting hypoglycaemia
may be caused by the following:
Autonomous insulin production owing to an
insulinoma
Glucocorticoid deficiency, with or without
thyroxine and growth hormone deficiency (e.g.
primary adrenal failure or hypopituitarism)
Inappropriate insulin or excessive sulfonylurea
drug administration in a diabetic patient
Rarer causes of hypoglycaemia, for example
hepatic failure and rapidly growing malignant
lesions, especially thoracic or retroperitoneal
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Endocrine and metabolic disorders
mesothelial tumours secreting proinsulin- like
growth factor II.
Cramps and ‘pins and needles’
Intermittent cramps and ‘pins and needles’
(paraesthesiae), especially if bilateral, can be caused
by a decreased level of circulating ionized calcium.
This may occur in hypoparathyroidism or be
associated with a fall in the ionized component of
serum calcium because of an increased extracellular
pH (alkalosis). The latter may occur with any
alkalosis, but is particularly well recognized in
hyperventilatory states (respiratory alkalosis) and
hypokalaemia (metabolic alkalosis). Refractory
cramping symptoms after correction of hypocalcaemia
may be owing to an associated hypomagnesaemia.
However, the differential diagnosis of paraesthesiae
in the hands includes median nerve compression
at the wrist (carpal tunnel syndrome), a syndrome
usually accompanied by typical sensory and motor
disturbance suggestive of a lesion in the median
nerve (see Chapter 16). Paraesthesiae in the feet are
a common symptom of diabetic peripheral sensory
neuropathy.
Nausea
Nausea is a rare symptom of endocrine disease. It is an
important presenting feature of adrenal insufficiency,
in which typically it is maximal in the morning and
may be associated with vomiting. Similar symptoms
may occur with severe hypercalcaemia and may
be the sole manifestation of this condition. These
two conditions should be considered early in the
differential diagnosis of a patient presenting with
upper gastrointestinal symptoms in the absence
of demonstrable structural disease. Occasionally,
thyrotoxicosis may present with nausea and
vomiting, although looseness of stools is the more
common gastrointestinal manifestation of this
condition.
Dysphagia
Difficulty in swallowing is an unusual manifestation
of endocrine disease, but it may be the presenting
feature of multinodular thyroid enlargement with
retrosternal extension. Smaller goitres only rarely
result in dysphagia. Severe hyperthyroidism with
generalized weakness may be associated with a
reversible myopathy of the pharyngeal musculature
and consequent dysphagia.
by fever and signs of thyrotoxicosis, suggests a
diagnosis of viral subacute thyroiditis (de Quervain’s
thyroiditis). Occasionally, autoimmune thyroiditis
may give rise to pain and tenderness, which mimics a
viral thyroiditis but is less severe. The sudden onset of
localized pain and swelling in the thyroid is indicative
of bleeding into a pre- existing thyroid nodule and is a
recognized complication of multinodular goitre. The
symptoms are self- limiting. Painless enlargement
of the thyroid gland (goitre) presents either with
pressure effects, resulting in dysphagia progressing
to tracheal compression and stridor, or cosmetic
disturbance. The underlying cause of thyroid
enlargement is often difficult to establish. The family
history and subsequent investigation may point to
autoimmune thyroiditis or dyshormonogenesis. A
history of rapid enlargement of the gland, especially
in an elderly patient, suggests an anaplastic thyroid
carcinoma. Coexisting severe diarrhoea points
towards a diagnosis of medullary carcinoma of the
thyroid. In the differential diagnosis, goitrogenic
drugs, for example lithium, should be considered, as
should residence in an iodine- deficient area. Previous
exposure to neck irradiation or to radioactive iodine
in childhood may also be important.
Impotence
Reduced erectile potency may be a consequence of
primary abnormalities, such as the following:
Decreased blood supply to the penis (e.g.
atherosclerosis)
Neural dysfunction (e.g. autonomic neuropathy
complicating diabetes)
Testosterone deficiency (e.g. hypopituitarism and
primary testicular failure)
Hyperprolactinaemia
Drug therapy (e.g. certain antihypertensives)
Psychological factors
A combination of several causes
It is often difficult to distinguish with certainty
between impotence owing to organic factors and that
which is psychological, although total erectile failure
and the absence of nocturnal and morning erections
suggest a physical cause. Impotence in a diabetic
patient should not be assumed to be inevitably
owing to autonomic neuropathy, and other causes
should be considered. Most importantly, it should be
recognized that male impotence is often complicated
by a psychological disturbance, which may serve to
exacerbate the problem.
Neck pain and swelling
Superficial discomfort in the neck may lead to
the incidental finding of thyroid enlargement.
Modest degrees of thyroid enlargement are very
common, whereas pain arising from the thyroid is
comparatively unusual. The most common cause
of local discomfort and tenderness in the neck is
inflammatory lymphadenopathy. Severe tenderness
of the thyroid itself, especially when accompanied
Gynaecomastia
Gynaecomastia refers to a smooth, firm, mobile,
often tender disc of breast tissue under the areola
in the male. It should be distinguished from the
soft, fatty enlargement often seen in obesity.
Mild gynaecomastia (sometimes unilateral or
asymmetrical) frequently occurs as a temporary
phenomenon in normal puberty and may persist
for several years or sometimes indefinitely (termed
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Box 19.7
Increased oestrogen/testosterone ratio
Chronic liver disease
Thyrotoxicosis
Phenytoin therapy
Androgen receptor antagonists
Spironolactone, digoxin
Inherited androgen receptor defects
Testicular feminization syndrome
Testosterone deficiency or oestrogen excess
Primary and secondary hypogonadism
Tumour production of human chorionic gonadotrophin
Oestrogen production by Leydig cell tumour of testis
Congenital and hereditary
X- linked spinal muscular atrophy (Kennedy syndrome)
Klinefelter’s syndrome (karyotype XXY)
persistent pubertal gynaecomastia). In adults,
gynaecomastia may result from:
Excess oestrogen stimulation
Reduction in circulating androgen
Antagonism of androgen action
Androgen insensitivity (Box 19.7)
Therefore, clinical assessment of the patient with
gynaecomastia should include an enquiry about
any change in libido and an examination of thyroid
status, the genitalia, the muscles and for stigmata of
chronic liver disease.
Causes of gynaecomastia
(hCG)
Amenorrhoea
The term amenorrhoea describes absence of
menstrual periods (menses). Perhaps the most
common cause of failure of onset of menses (primary
amenorrhoea) is physiological delay of puberty, a
diagnosis that can be made only with certainty in
retrospect. Important pathological causes include:
Hypothalamic–pituitary dysfunction (e.g. owing
to tumours)
Ovarian failure (e.g. failure of normal ovarian
marked development or cytotoxic chemotherapy)
Thyroid dysfunction
Defects in lower genital tract development
Important diagnostic pointers in the history include
symptoms suggestive of thyroid disease, or any visual
disability that might indicate compression of the
optic chiasm by a hypothalamic or pituitary tumour.
Secondary amenorrhoea (cessation of previously
established menses) has similar causes. In addition,
marked weight loss may lead to amenorrhoea, as
in anorexia nervosa or inflammatory bowel disease.
Amenorrhoea or oligomenorrhoea (infrequent
scanty periods) may occur in women subject to
excessively rigorous physical training programmes.
Normal pregnancy is the most common cause of
secondary amenorrhoea.
Galactorrhoea
Occasionally, physiological lactation may persist
after breastfeeding has ceased. Inappropriate
lactation is usually bilateral. There are a number of
causes, which include the following:
Prolactin- secreting tumours of the pituitary gland
Idiopathic galactorrhoea, in which there is an
apparent increased sensitivity to normal levels of
serum prolactin
Hyperprolactinaemia owing to hypothyroidism
dopaminetoowingHyperprolactinaemia
antagonist drugs (most commonly anti- emetic
and anti- psychotic medications)
lactotrophbycausedHyperprolactinaemia
disinhibiting lesions of the hypothalamopituitary
region
Inappropriate secretion of breast milk should
therefore always prompt enquiry for symptoms
referable to the thyroid and pituitary glands, and a
thorough drug history should be taken. Even with
very high prolactin levels, galactorrhoea is rare in men.
Excess hair growth
An increase in the growth of facial and body hair
in adult females is a relatively common symptom
that may be caused by increased circulating
androgens. However, it is most commonly a normal,
constitutional characteristic. Pathological causes of
hirsutism include:
Polycystic ovary syndrome
Late presentation of congenital adrenal
hyperplasia
Androgen- secreting ovarian or adrenal tumours
The history is vital in the clinical assessment. If the
symptoms commenced shortly after the menarche,
then a tumour source of androgen is unlikely. A
regular menstrual cycle is good evidence against
severe androgen excess, but does not exclude
polycystic ovary syndrome. Increased libido suggests
substantially increased androgen secretion, which
may be either ovarian or neoplastic in origin.
The latter symptom requires sensitivity to elicit,
particularly if a partner is present.
Bowel disturbance
Constipation and abdominal distension may be
features of hypothyroidism, hypercalcaemia or
panhypopituitarism. Diarrhoea may occur as part of
autonomic neuropathy involving the gut in diabetes
mellitus. Peptic ulceration may occur in Zollinger–
Ellison syndrome, in which gastrin- secreting tumours
of the gut result in increased gastric acid secretion.
The combination of dyspepsia and marked diarrhoea
(the latter owing to inactivation of pancreatic
enzymes by excessive acid production) is highly
suggestive of Zollinger–Ellison syndrome.
Skin changes
Pallor often occurs in primary testicular failure and
in panhypopituitarism. Excessive pigmentation
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occurs in adrenocorticotrophic hormone (ACTH)dependent Cushing’s syndrome, and increased
sebum production causing greasy skin and acne on
the face and shoulders may occur in all causes of
glucocorticoid excess. In carcinoid tumours of the
gut or lung, increased humoral secretion results
in a violaceous cyanosis- like skin discolouration.
A variegate, patchy rash is a feature of porphyria,
an inherited abnormality of haem metabolism.
In primary hypoadrenalism, there is increased
pigmentation of the conjunctival membrane beneath
the eyelids and of the inside of the mouth, the axillae
and the palmar skin creases. In hypothyroidism,
the skin appears dry, pale, sallow or even slightly
yellow; scalp hair is coarse and lateral eyebrow hair
is thinned. In hyperthyroidism, the skin is dry and
hot, but often not flushed. In hypocalcaemia, the
nails are friable. In uraemia, the skin is pale or yellow
and slightly pigmented, and in terminal uraemia, a
‘uraemic frost’ may appear on the skin.
Vitiligo, a patchy depigmentation of the skin, is
common in association with many autoimmune
disorders, particularly autoimmune hypothyroidism
and vitamin B12 deficiency.
Family history
The family background in endocrine or metabolic
disease may be particularly useful in the evaluation
of several of the more common disorders. It is also
particularly important in the assessment of less
common inherited disorders of metabolism.
Thyroid disease
Autoimmune hypothyroidism and hyperthyroidism
frequently show familial aggregation.
Dyshormonogenetic goitre is also often inherited.
A family history of organ- specific autoimmune
disease (e.g. pernicious anaemia, vitiligo, Addison’s
disease) may also point to an autoimmune aetiology
of thyroid disease.
Renal calculi
Primary hyperparathyroidism, an important cause
of renal stones, may be familial, occurring either as
an isolated disorder or as a part of the syndrome of
multiple endocrine neoplasia (type I).
The examination
General assessment
Begin the general assessment by observing the
general appearance of the patient. Start by assessing
the state of nutrition and by measuring weight and
height. Calculate the body mass index (BMI). The
distribution of fat should be noted. Deposition
of fat in the intra- abdominal, thyrocervical and
interscapular regions with relative sparing of the
Figure 19.1 Typical facial appearance of Cushing’s syndrome.
Note the increased fat deposition and the plethoric appearance. The
patient presented with a 2- year history of secondary infertility, easy
bruising and central adiposity.
limbs (truncal obesity) is characteristic of Cushing’s
syndrome and is accompanied by a typical plethoric
appearance (Fig. 19.1) because of a combination of
increased subcutaneous fat and thinning of the skin.
Patients with growth hormone hypersecretion
resulting from somatotroph pituitary adenomas
also demonstrate a classic facial appearance, with
increased fullness and coarsening of soft tissues,
including the lips and tongue which, in patients
with long- standing disease, may be accompanied
by overgrowth of the zygoma, orbital ridges and
mandible (prognathism) (Fig. 19.2). Acromegaly in
young people occurring before epiphyseal fusion
causes abnormally tall stature (gigantism). Increased
adiposity in a child who is growing poorly suggests
the possibility of growth hormone deficiency,
hypothyroidism, craniopharyngioma or, rarely,
Cushing’s syndrome. Simple obesity is associated
with normal or increased linear growth velocity.
The skeletal proportions should be noted: a longlimbed appearance may indicate delayed epiphyseal
fusion owing to hypogonadism (eunuchoidism) or
the connective tissue abnormality Marfan syndrome.
A eunuchoid body habitus is confirmed by
demonstrating that the leg length (top of symphysis
pubis to ground) exceeds the sitting height or that
the span exceeds the total height. Shortening of the
limbs occurs with a variety of skeletal dysplasias.
The cytogenetic disorder Turner syndrome
(karyotype 45XO), which is characterized by
gonadal dysgenesis and the variable presence of
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Figure 19.3 The hands in pseudohypoparathyroidism. Note the
characteristic shortening of the fourth and fifth metacarpals.
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Figure 19.2 The facial (A) and hand (B) appearance of
acromegaly. There is overgrowth of the facial skeleton, coarsening
of features and an increase in soft tissues, most obvious in the
hands. The patient had a 4- year history of excessive sweating,
increased shoe size, frontal headache and ‘pins and needles in
fingers’.
other visceral abnormalities, has a typical phenotypic
appearance, including short stature, failure of
secondary sexual development, decreased or absent
secondary sexual hair, an increase in the normal
angulation between the humerus and the lower
arm, a low posterior hairline and an exaggerated fold
of skin between the neck and shoulder. It is most
important that accurate wall- mounted stadiometers
be used in the assessment of normal growth and its
possible disorders.
Figure 19.4 Circumoral pigmentation in a patient with
hypersecretion of ACTH.
The hands should be carefully examined for
evidence of finger clubbing which, among other
things, may be a rare manifestation of thyrotoxic
Graves’ disease (called thyroid acropachy). Palmar
erythema may also be found in thyrotoxicosis of any
cause as well as in patients with chronic liver disease
or rheumatoid arthritis, and in pregnancy.
A unique selective shortening of the fourth
and fifth metacarpals may be found as the major
somatic manifestation of a group of recessively
inherited disorders of parathormone action
(pseudohypoparathyroidism; Fig. 19.3).
The skin
Pigmentation, especially buccal, circumoral or palmar,
may indicate the increased secretion of ACTH that
occurs with adrenal failure (Addison’s disease; Fig.
19.4); patches of depigmentation, or vitiligo (Fig.
19.5), may also be found in Addison’s disease or other
organ- specific autoimmune disorders. Violaceous
striae, arising as a result of stretching of thin skin
with exposure of the dermal capillary circulation,
suggest the possibility of glucocorticoid excess
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Endocrine and metabolic disorders
Figure 19.5 Extensive areas of depigmentation (vitiligo) in a
patient with organ- specific autoimmune disease.
Figure 19.7 The facial appearance of hypothyroidism. The patient
demonstrates periorbital puffiness and coarsening of scalp hair.
(Source: Figure 14.18 in Jarvis C: Physical examination & health
assessment, ed 4, Philadelphia, 2004, Saunders, p 295.)
Figure 19.6 Violaceous striae typical of Cushing’s syndrome.
(Fig. 19.6), and abnormal dryness of the skin and
coarseness of the hair are found in hypothyroidism
(Fig. 19.7). Localized thickening of the dermis
owing to mucopolysaccharide and inflammatory cell
deposition, particularly on the anterior aspects of the
legs when it is known as pretibial myxoedema, is one
of the classic, although relatively rare, extrathyroidal
manifestations of Graves’ disease.
In females, dermatological examination should
also include attention to any abnormality of
hair distribution, either excess hair growth in an
androgen- dependent distribution (hirsutism) or hair
loss in a male pattern, both of which may indicate
increased circulating androgen and should prompt
examination for evidence of virilization (see below).
The thyroid
The anatomical landmarks relevant to inspection
and palpation of the thyroid are shown in Fig.
19.8. Immediately inferior to the thyroid cartilage
(with its superior notch) is the cricoid cartilage,
with the thyroid isthmus lying just below in the
midline. The right and left lobes of the thyroid curve
posterolaterally around the trachea and oesophagus
and are partially covered by the sternomastoid
muscles. The attachment of the thyroid to the
pretracheal fascia dictates that it moves superiorly
on swallowing; absence of this movement raises
the possibility of an infiltrative thyroid carcinoma.
Remember that the right lobe is slightly larger than
the left; hence, diffuse thyroid enlargement, as in
Graves’ disease, is often apparently asymmetrical.
There are several methods for examining the thyroid,
but a suggested routine is as follows.
With the patient’s neck slightly extended, inspect
the area below the cricoid cartilage. Ask him to take
a sip of water, extend the neck again and swallow.
Watch for the superior movement of the gland,
carefully noting its contour and any asymmetry.
Thyroid palpation is best carried out from behind,
with the patient’s neck slightly extended, but not
so much that the neck musculature is tightened.
This may feel awkward initially, but with time and
practice it will become more comfortable. Have a
glass of water available throughout the examination
so the patient may take repeated sips and swallow, as
necessary. Position both hands to encircle the neck
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