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Summary Endocrinology Disease profiles

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These files contain a summary of important Endocrinology conditions put into disease profile format and can be made into flashcards. It contains pathophysiology, presentation, investigations and management for most of the disease.

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  • July 22, 2023
  • 8
  • 2022/2023
  • Summary
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julliennebadilla
A 12-year-old white girl is brought by her TYPE 1 DIABETES
parents of progressive lethargy. She has also PATHOPHYSIOLOGY: inability to produce insulin due
complained of increased frequency of to autoimmune destruction of beta-cells in the
pancreatic islets of Langerhan. Autoantibodies (anti-
urination and increased thirst. Examination GAD, anti-islet cell, anti-insulin autoantibodies).
shows a lean, mildly dehydrated girl. What is Associated with other autoimmune conditions (e.g.,
the likely diagnosis? Graves), HLA-DR3/4
PRESENTATION: lethargy, polyuria, polydipsia,
weight loss, mild-mod dehydration, BMI <25
INVESTIGATION: pt with suspected T1DM referred
same day specialist, antibodies, fasting glucose >/=
7mmol/ L, random glucose >/= 11.1 mmol/L, if
asymptomatic, bloods positive twice
MANAGEMENT: insulin, target HbA1c <48, annual
complication monitoring. DAFNE, annual flu and once
pneumococcal vaccine
An overweight 55-year-old woman presents TYPE 2 DIABETES
for preventative care. She notes that her PATHOPHYSIOLOGY: peripheral insulin resistance
mother died of diabetes, but reports no and inadequate insulin secretion
RISK FACTORS: obesity, 1st degree relative to
polyuria, polydipsia, or weight loss. BP is diabetes, pacific islanders, Asian, African, PCOS
144/92 mmHg, fasting blood sugar 8.2 PRESENTATION: lethargy, polyuria, polydipsia,
mmol/L (148 mg/dL), HbA1c 65 mmol/mol weight loss, recurrent infections
(8.1%), LDL-cholesterol 5.18 mmol/L (200 INVESTIGATIONS: HbA1c >48, fasting glucose >7, if
asymptomatic, repeat bloods again to confirm
mg/dL), HDL-cholesterol 0.8 mmol/L (30 diagnosis
mg/dL), and triglycerides 6.53 mmol/L (252 MANAGEMENT: lifestyle advice, metformin 1st line
mg/dL). What is the likely diagnosis? drug, dual therapy if HbA1c still >58, then triple
therapy or insulin, monitor complications and vaccines
What is the likely diagnosis? CHARCOT’S ARTHROPATHY
A relatively painless, progressive and destructive
arthropathy due to underlying neuropathy
CLINICAL FEATURES: red, hot, swollen food, pulses
present, peripheral neuropathy, rocker bottom
deformity.
INVESTIGATIONS: plain X-rays can be normal but can
show fractures with osteolysis
MANAGEMENT: acute (immobilisation in a cast,
pneumatic walkers, CROW, rest, crutches), chronic
(footwear, orthosis, corrective surgery, podiatry)


A 70-year-old man presents with a 3-month DIABETIC FOOT DISEASE
history of a non-healing foot ulcer. He is PATHOPHYSIOLOGY: diabetes -> motor, sensory and
unsure how it began. He reports seeing a autonomic neuropathy -> foot deformity, loss of
protective sensation, dry skin -> callus ->
podiatrist once in the past but failed to subcutaneous haemorrhage -> foot ulcer
return for follow-up care. His medical history RISK FACTORS: previous amputations, previous
is notable for diabetes mellitus, remote ulceration, neuropathy, renal impairment, trauma,
stroke without residual neurological deficit, poor glycaemic control, smoking
CLINICAL FEATURES: neuropathic or ischaemic,
laser photocoagulation for retinopathy, and ulcer, gangrenous, callus
two previous percutaneous coronary INVESTIGATIONS: SINBAD classification of diabetic
interventions following myocardial infarcts. foot lesions, diabetic foot exam
What is the likely diagnosis? MANAGEMENT: advice and education on nail care,
hygiene, and footwear. Debridement, pressure
offloading, modified insoles, casting, pneumatic boots,
resting, treat infection, regular wound dressing,
diabetic compliance




A 47-year-old man presents with arthritic ACROMEGALY
pain of the knees and hips, soft-tissue AETIOLOGY: pituitary adenoma, neuroendocrine
swelling, and excessive sweating. He also tumours, hypothalamic tumours
CLINICAL FEATURES: macrognathia, frontal bossing,
noticed progressive enlargement of the enlargement of hands, feet, lips and nose wide space
hands and feet. He has been taking teeth, deep voice, coarse facial appearance, excessive
antihypertensive medication for the past 3 sweating, insulin resistance, OSA, organomegaly,
years. On physical examination, he has headache (may be due to mass effect of pituitary
adenoma), HTN, cardiomyopathy, LV hypertrophy,

, coarse facial features with prognathism and heart failure, mass effect (visual loss, menstrual or
prominent supra-orbital ridges. The tongue is erectile dysfunction)
INVESTIGATIONS: serum IGF-1 raised, if IGF-1
enlarged and the fingers are thickened. His equivocal, carry out OGTT, OGTT no suppression of GH,
wife says that he frequently snores. What is pituitary MRI demonstrate pituitary tumour
the likely diagnosis? MANAGEMENT: first line is trans-sphenoidal
management, medication (somatostatin analogue,
dopamine agonist, pegvisomant (GH receptor
antagonist), radiotherapy (if surgery and medicine fail)

A 45-year-old white woman presents with PRIMARY HYPOTHYROIDISM
symptoms of fatigue, depression, and mild AETIOLOGY: Hashimoto’s (autoimmune,
weight gain. Physical examination HLA-DR3/DR5, goitrous, atrophic), postpartum
thyroiditis, Riedel’s thyroiditis, De Quervain’s (viral),
demonstrates heart rate of 58 beats per increased iodide (Wolff-Chaikoff), decreased iodide,
minute, coarse dry skin, and bi-lateral eyelid amiodarone, lithium, iodide 131
oedema. Serum thyroid-stimulating hormone CLINICAL FEATURES: goitre, weight gain, low body
(TSH) is 40 mIU/L (normal range, subject to temperature, bradycardia, cold intolerance, HTN,
depression, fatigue, lethargy, delayed DTRs,
laboratory standards, 0.35 to 6.20 mIU/L), constipation, proximal myopathy, hair loss, pale, dry
and free T4 is 6.44 picomol/L (0.5 skin, hypercholesterolemia, low testosterone and
nanograms/dL) (usual normal range, subject estrogen, pretibial myxedema, carpal tunnel,
to laboratory standards, 9.00 to 23.12 periorbital oedema
picomol/L [0.8 to 1.8 nanograms/dL]). What INVESTIGATIONS: anti-TPO and anti-TG in
Hashimoto’s, low FT4, increased TSH and TRH,
is the likely diagnosis? pregnancy history, drug history, iodine levels, ESR in
thyroiditis
MANAGEMENT: levothyroxine (morning before eating,
Once stable, re-check every year. If changing the dose,
check after 6 weeks and then if stable ⇒ check after 6
months), can interact with iron, calcium carbonate
A 40-year-old woman visits her physician CENTRAL HYPOTHYROIDISM
with a 4-month history of chronic headaches AETIOLOGY: the hypothalamus (trauma, tumour ->
and visual problems. She has no past decreased TRH), anterior pituitary (trauma, infarction –
Sheehan syndrome)
medical history. A review of symptoms CLINICAL FEATURES: goitre, weight gain, low body
reveals easy fatigue, cold intolerance, temperature, bradycardia, cold intolerance, HTN,
galactorrhoea, and amenorrhoea for the past depression, fatigue, lethargy, delayed DTRs,
6 months. Physical examination findings constipation, proximal myopathy, hair loss, pale, dry
skin, hypercholesterolemia, low testosterone and
include bitemporal hemianopia, periorbital estrogen, pretibial myxedema, carpal tunnel,
oedema, normal-sized thyroid, bradycardia, periorbital oedema
galactorrhoea, and vaginal atrophy. What is INVESTIGATION: TSH decreased, FT4 decreased, CT
the likely diagnosis? or MRI to check tumours
MANAGEMENT: levothyroxine (morning before eating,
Once stable, re-check every year. If changing the dose,
check after 6 weeks and then if stable ⇒ check after 6
months), can interact with iron, calcium carbonate



A 38-year-old woman, who in the past had HYPERTHYROIDISM
tried to lose weight without success, is AETIOLOGY: Grave’s disease (most common cause in UK,
HLA-B8, TSH-R antibodies), toxic adenoma (TSH-R
happy to see that in the last 2 months she mutation), toxic multinodular goitre (second most
has lost about 11 kg (25 pounds). She also common cause), pituitary adenoma, Beta-HCG related,
has difficulty sleeping at night. Her husband stroma ovarii, follicular thyroid cancer
complains that she is keeping the house CLINICAL FEATURES: weight loss, sweating, heat
intolerance, tachycardia, HTN, osteoporosis, anxiety,
very cool. She recently consulted her insomnia, irritability, lid lag and lid retraction, diarrhoea,
ophthalmologist because of redness and myopathy, coarse hair, onycholysis, oily, flushed skin,
watering of the eyes. Eye drops were not decreased libido, infertility, gynaecomastia, amenorrhoea,
Grave’s, (exophthalmos, thyroid acropachy, pretibial
helpful. She consults her doctor for fatigue myxoedema)
and anxiety, palpitations, and easy INVESTIGATIONS: primary (TSH decreased, FT4
fatigability. On physical examination, her increased), secondary (increased TSH, FT4 increased),
TSHR-Ab, ultrasonography, thyroid uptake scan, B-HCG,
pulse rate is 100 bpm and her thyroid is US and biopsy for stroma ovarii
slightly enlarged. Conjunctivae are red and MANAGEMENT: thioamides (carbimazole or
she has a stare. What is the likely diagnosis? propylthiouracil), radioactive iodine (CI pregnancy,
breastfeeding), thyroidectomy, Grave’s ophthalmopathy
(artificial tears, refer to ophthalmology, steroids,
irradiation, surgical decompression)

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