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Symptoms and Signs- Differential Diagnosis of Pruritus ani
Incontinence, diarrhoea, poor hygiene
Infection: Enterobius vermicularis (threadworm}, fungal (candidiasis, tinea cruris),
scabies
Anal disease: haemorrhoids, fissure, fistula, wart
Skin disease: contact dermatitis, eczema, psoriasis, lichen sclerosis Other: anxiety, tight pants
Incontinence, diarrhoea, poor hygiene
Infection: Enterobius vermicularis (threadworm}, fungal (candidiasis, tinea cruris),
scabies
Anal disease: haemorrhoids, fissure, fistula, wart
Skin disease: contact dermatitis, eczema, psoriasis, lichen sclerosis Other: anxiety, tight pants
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Symptoms and Signs – Differential Diagnosis of Pseudohermaphrodite Female
Excess androgens:
Increase Exposure during the embryonic period: androgen from adrenal/ovarian tumour or luteoma of pregnancy, congenital adrenal hyperplasia (CAH), intake of androgens or androgenic progestogens taken by the mother
Increase Synthesis in the adrenals: CAH
Male
Leydig cell hypoplasia
Luteinizing hormone (LH) or LH-receptor mutation (autosomal recessive) Testosterone synthesis defects (autosomal recessive)
5-alpha reductase deficiency (autosomal recessive)
Androgen insensitivity: spectrum varies from partial (Reifenstein's syndrome) -,
complete (testicular feminization syndrome)
Excess androgens:
Increase Exposure during the embryonic period: androgen from adrenal/ovarian tumour or luteoma of pregnancy, congenital adrenal hyperplasia (CAH), intake of androgens or androgenic progestogens taken by the mother
Increase Synthesis in the adrenals: CAH
Male
Leydig cell hypoplasia
Luteinizing hormone (LH) or LH-receptor mutation (autosomal recessive) Testosterone synthesis defects (autosomal recessive)
5-alpha reductase deficiency (autosomal recessive)
Androgen insensitivity: spectrum varies from partial (Reifenstein's syndrome) -,
complete (testicular feminization syndrome)
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Symptoms and Signs – Differential Diagnosis of Ptosis
Third nerve palsy
Homer's syndrome
Myopathy:
Myasthenia gravis Myotonic dystrophy Ocular myopathy
Congenital Syphilis
Third nerve palsy
Homer's syndrome
Myopathy:
Myasthenia gravis Myotonic dystrophy Ocular myopathy
Congenital Syphilis
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Symptoms and Signs – Differential Diagnosis of Puberty
Delayed
Constitutional growth and puberty delay
Hypogonadism of pre-pubertal onset (See Hypogonadism)
Precocious
Complete (central)
Congenital: hydrocephalus, brain malformations
Acquired: tumours (hypothalamidpituitary: glioma, hamartomas), trauma,
radiation, infiltrations
Incomplete
Premature pubic/axillary hair development: excess androgens
Leydig cells stimulated by hCG (which has LH-like activity), e.g. from hepatoma,
hepatoblastoma, pineal/hypothalamic teratomas
Leydig cells premature activation (testotoxicosis) due to an activating mutation of
the LH receptor
Leydig cell tumour
McCune-Albright syndrome: constitutive activation of the gonadotrophin
receptor on Leydig cells
Excess androgens from adrenal tumours, CAH Exogenous sex steroids
Premature breast development (thelrache): excess oestrogens:
Ovarian cyst (developed possibly due to premature FSH secretion) Hypothyroidism (l thyroid hormone -, TTSH stimulates FSH secretion:
TFSH -, ovarian cyst development) Ovarian neoplasm
McCune-Albright
Delayed
Constitutional growth and puberty delay
Hypogonadism of pre-pubertal onset (See Hypogonadism)
Precocious
Complete (central)
Congenital: hydrocephalus, brain malformations
Acquired: tumours (hypothalamidpituitary: glioma, hamartomas), trauma,
radiation, infiltrations
Incomplete
Premature pubic/axillary hair development: excess androgens
Leydig cells stimulated by hCG (which has LH-like activity), e.g. from hepatoma,
hepatoblastoma, pineal/hypothalamic teratomas
Leydig cells premature activation (testotoxicosis) due to an activating mutation of
the LH receptor
Leydig cell tumour
McCune-Albright syndrome: constitutive activation of the gonadotrophin
receptor on Leydig cells
Excess androgens from adrenal tumours, CAH Exogenous sex steroids
Premature breast development (thelrache): excess oestrogens:
Ovarian cyst (developed possibly due to premature FSH secretion) Hypothyroidism (l thyroid hormone -, TTSH stimulates FSH secretion:
TFSH -, ovarian cyst development) Ovarian neoplasm
McCune-Albright
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Symptoms and Signs – Differential Diagnosis of Pulmonary hypertension
Primary
Secondary:
Left heart disease (mitral valve disease, LVF, left atrial myxoma/thrombosis) Chronic lung disease (COPD)
Recurrent pulmonary emboli
Increased Pulmonary blood flow (VSD, ASD, patent ductus arteriosus)
Connective tissue disease (e.g. SLE, scleroderma) Drugs: fenfluramine (appetite suppressant)
HIV
Primary
Secondary:
Left heart disease (mitral valve disease, LVF, left atrial myxoma/thrombosis) Chronic lung disease (COPD)
Recurrent pulmonary emboli
Increased Pulmonary blood flow (VSD, ASD, patent ductus arteriosus)
Connective tissue disease (e.g. SLE, scleroderma) Drugs: fenfluramine (appetite suppressant)
HIV
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Symptoms and Signs – Differential Diagnosis of Irregular pulse
Sinus arrhythmia (rate increases with inspiration)
Irregularly irregular: atrial fibrillation, multiple ectopic beats (extrasystoles),
atrial flutter with variable block
Regularly irregular: 2° heart block, ventricular bigemini
Sinus arrhythmia (rate increases with inspiration)
Irregularly irregular: atrial fibrillation, multiple ectopic beats (extrasystoles),
atrial flutter with variable block
Regularly irregular: 2° heart block, ventricular bigemini
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Symptoms and Signs – Differential Diagnosis of bounding pulse
Peripheral vasodilatation_: CO2 retention (e.g. COPD), sepsis, liver failure, thyrotoxicosis
Increased Stroke volume: aortic regurgitation, patent ductus arteriosus, large AV fistulas, thyrotoxicosis, severe anaemia, exercise
Peripheral vasodilatation_: CO2 retention (e.g. COPD), sepsis, liver failure, thyrotoxicosis
Increased Stroke volume: aortic regurgitation, patent ductus arteriosus, large AV fistulas, thyrotoxicosis, severe anaemia, exercise
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Symptoms and Signs – Differential Diagnosis of Unequal/delayed pulses
Atherosclerosis, thromboembolic disease
Aortic dissection
Aortic aneurysm
Arteritis: Large vessel vasculitis (Takayasu's arteritis, giant cell arteritis, secondary
syphilis)
Subclavian steal syndrome Supravalvular aortic stenosis
Atherosclerosis, thromboembolic disease
Aortic dissection
Aortic aneurysm
Arteritis: Large vessel vasculitis (Takayasu's arteritis, giant cell arteritis, secondary
syphilis)
Subclavian steal syndrome Supravalvular aortic stenosis
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Symptoms and Signs – Differential Diagnosis of increased Pulse pressure
Aortic regurgitation
Thyrotoxicosis
Pregnancy
Patent ductus arteriosus
High-output cardiac failure (e.g. severe anaemia, beri beri, Paget's disease)
Aortic regurgitation
Thyrotoxicosis
Pregnancy
Patent ductus arteriosus
High-output cardiac failure (e.g. severe anaemia, beri beri, Paget's disease)
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Symptoms and Signs – Differential Diagnosis of Portal hypertension
Prehepatic: portal/splenic vein thrombosis
Hepatic: cirrhosis, granulomata, schistosomiasis
Posthepatic: Budd-Chiari syndrome (hepatic vein thrombosis), congestive cardiac
failure, constrictive pericarditis
Prehepatic: portal/splenic vein thrombosis
Hepatic: cirrhosis, granulomata, schistosomiasis
Posthepatic: Budd-Chiari syndrome (hepatic vein thrombosis), congestive cardiac
failure, constrictive pericarditis