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Clinical Exam > Endocrinology exam > Flashcards

Endocrinology exam Flashcards

1
Q

Diabetes Mellitus

-other issues-

A

growth: secondary to poor control

AI disease: thyroiditis, coeliac

psychiatric: depression, eating disorders

VASCULOPATHY:

nephropathy: increasd albuminuria, then proteinuria

  • annual albuminuria if DM>5yrs

HTN

retinopathy: annual opthal exam if >10yrs if DM>3yrs

neuropathy: vibration/proprioception testing annually if >10yrs

lipids: lipid profile everu 3 years if >10yrs

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2
Q

Side effects bisphosphonates

A
  • initial ↓ Ca
  • fevers, nausea, fatigues
  • constipation, diarrhoea
  • myalgia, bone pain
  • AVN of TMJ
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3
Q

Calcium

A

requirement: 800-1200mg/day

decreased absorption: alcohol, caffeine, tannins, phosphate

increased excreation: high salt/protein diet

drugs: AED, steroids, warfarin

osteopaenia: 1 SD below (2x fracture risk)

osteoporosis: 2 SD below (4x fracture risk)

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4
Q

Indications GH

A

Height <1st centile and growth velocity <25th over 1 year

  • need 3 heights over a year, bone age
  • appropriate gonadal, thyroid, adrenal
  • radiotherapy/pituitary surgery
  • male >15 and bone age >13 / female > 12.5 and bone age >10.5
  • Turner syndrome: <95th Turner syndrome charts
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5
Q

Side effects GH

A
  • slipped upper femoral epiphysis
  • benign intracranial hypertension
  • gynaecomastia
  • reversible hypothyroid
  • increased risk of prostate, breast, colon cancer
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6
Q

Steroids

side effects

A

CUSHINGOID MAP

Cataract/Cushingoid face

Ulcer

Striae/skin thinning

Hypertension

Infection: thrush

Necrosis of bone: avascular

Growth: short stature

Osteoporosis/obesity

Increased ICP

DM

Myopathy/mood

Adipose hypertrophy/Acne

Pancreatitis/psychosis

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7
Q

Mid parental height

A
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8
Q

Precocious puberty

A

diagnosis:

  • rapidly increasing height (crossing centiles upward)
  • taller than peers/family
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9
Q

Constitutional delay

A

diagnosis:

  • most common cause delayed puberty
  • slowed height velocity
  • height crossing ventiles downwards
  • family hx pubertal delay

investigations:

  • LH/FSH/estrogen
  • TFTs/GH
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10
Q

Chronic disease growth

A

pathophysiology: cytokine release impairs bone growth or poor nutrition

diagnosis:

  • weight and height crossing centiles downwards
  • poor compliance with treatment
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11
Q

Bone age

A
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12
Q

Causes of tall stature

A

Familial

Obesity

Syndromes:

  • Marfan, homocystinuria
  • Sotos
  • Kleinfelter
  • BWS

Endocrine:

  • hyperthyroidism
  • precocious puberty
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13
Q

Marfan’s

A

genetic: AD

clinical:

  • lower segment>upper segment
  • arm span>height
  • long thin face
  • high arch palate with dental crowding
  • arachnodactyly
  • sternberg’s sign/wrist and thumb sign
  • ligamentous laxity
  • pectus excavatum/carinatum
  • scoliosis
  • aortic root dilatation
  • mitral prolapse
  • lens dislocation
  • pes planus
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14
Q

Homocystinuria

A

genetics: AR

clinical:

  • FTT
  • DD
  • long limbs, arachnodactyly
  • high arched palate/dental crowding
  • ocular len subluxation
  • scoliosis
  • chest wall deformity
  • genu valgum, pes planus
  • psychiatric 50%
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15
Q

Klinefelter’s

47XXY

A

clinical:

  • tall stature
  • delayed puberty
  • small testicles (<2ml)
  • gynaecomastia
  • low IQ
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16
Q

XYY syndrome

A

clinical:

  • tall
  • normal IQ
  • behavioural issues
  • normal genitals/puberty
17
Q

Sotos

A

definition: cerebral gigantism

clinical:

  • macrosomia from birth
  • facies: prominent forehead/chin, hypertelorism
  • large hands, feet, ears, nose, genitals
  • advanced skeletal development
18
Q

Disproportionate limbs

A

rhizomelic: achondroplasia, rhizomelic chondrodysplasia punctata

mesomelic: mesomelic dysplasia, Ellis-van Creveld sx

non-rhizomelic/mesomelic short arms and trunk: spondyloepiphyseal dysplasia, hypochondroplasia, MPS, GM1

asymmetrical limbs: chondropdysplasia punctata, hemihypertrophy (RSS)

short spine: irradiation

19
Q

GH deficiency

A

diagnosis: slowing of height velocity

clinical:

  • facies: facial crowding
  • central obesity
  • small hands/feet

investigations: IGF-1, GH stimulation test (glucagon, arginine, clonidine)

indications GH: PWS, Turner, CKD, GH deficiency

SE GH:

  • headache
  • oedema
  • hypothyroidism
  • scoliosis
  • insulin resistance
  • cancer
20
Q

Turner syndrome

A

genetics: 45 XO

clinical:

  • short, high palate, webbed neck, large carrying angle, shield chest, wide nipples, naevi, dysplastic nails, short 5th MC
  • cardiac: coarctation, bicuspid AV
  • degenerative ovaries
  • pubertal failure 90%
  • renal anomalies: pelvic kidney, PUJ obstruction
  • OM
  • DD
  • AI: thyroidism, IBD

management:

  • screening cardiac/ernal
  • E/P replacement in adolescence
  • GH replacement
  • monitor thyroid, hearling loss, HTN, scoliosis, insulin resistance, neurodev delay, amblyopia
21
Q

Noonan

A

genetic: sporadic/AD chromosome 12

clinical:

  • short, pubertal delay
  • facies: hypertelorism, downward palpebral fissures, epicanthic folds, ptosis, micrognathia, low ears, webbed neck
  • wide nipples, cubitus valgus
  • cardiac: PV stenosis, HCM
  • cryptorchidism, hernias
22
Q

Russell Silver Syndrome

A

clinical:

  • facies: small, triangular face, high forehead, micrognathic jaw, prominent nasal bridge, downward corners of mouth
  • late closure anterior fontanelle
  • neck: unilateral shortening and webbing to trunk
  • limbs: hemihypertrophy, clinodactyly, camptodactyly, syndactyly of toes
  • hypospadias/undescended testis
  • short
  • normal HC
  • blue sclerae
  • asymmetrical somatic growth
  • IUGR/low birth weight
  • FTT
  • hypoglycaemia
  • GORD

investigations:

  • bone age, ECHO, renal US
23
Q

Mucopolysaccharidoses

A

clinical:

  • short
  • macrocephaly
  • coarse facial deatures
  • thickened lips
  • large head with frontal bossing
  • flat midface
  • prominent sutures
  • broad flat nose
  • corneal clouding
  • cherry red spot
  • HSM
  • kyphosis, gibbus
  • DD
24
Q

MPS differentials

A

Morquio: similar physical to Hurler sx but normal intelligence

Sanfilippo: less severe physical features but severe ID

other differentials: GM1, mannosidosis, fucosidosis, mucolipidoses

25
Q

Achondroplasia

A

genetic: AD 50% new mutations

clinical:

  • short
  • facies: frontal bossing, flat nasal bridge, large HC, mandibular prognathism
  • trident hands
  • rhizomelic shortening (humerus/femur)
  • lumbar lordosis/scoliosis, gibbus
  • laxity of ligaments

complications: cervical cord compression, hydrocephalus, OSA, pulmonary HTN, OM, dental malocclusion

26
Q

Cushing’s syndrome

A

causes:

primary (infants)

  • adrenocortical tumour
  • McCune-Albright syndrome
  • Primary pigmented nodular adrenocortical disease

secondary

  • bilateral adrenal hyperplasia (secondary to ACTH tumour)
  • exogenous steroids
  • ectopic adrenocorticotropin hormone (ACTH) eg. Wilm’s

clinical:

  • moon face, buffalo hump, adrenal virilism
  • striae
  • precocious puberty
  • HTN
  • DM
  • Osteoporosis
27
Q

Hyperthyroidism

A

causes: Grave’s

clinical:

  • warm sweaty hands, tachycardia, tremor
  • exopthalms, lig lag, external opthalmoplegia
  • thyroid bruit, goitre
  • proximal myopathy
  • tall

investigation:

  • low TSH, high T3, TSH-receptor stimulating Abs
  • bone age: advanced

treatment: carbimazole, propranolol, thyroidectomy, radioactive iodine

28
Q

Thyroid eye disease

A

pathophysiology: antibodies attack antigens shared by thyroid and eye

clinical:

  • lid oedema
  • exopthalmos/proptosis: retro-orbital inflammation
  • conjunctival injection/oedema
  • decreased ROM
  • external opthalmoplgeia: infilatration in medical and inferior rectus
  • exposure keratopathy
29
Q

Congenital hypothyroidism

A

causes:

  • Thyroid dysgenesis 90%: 1/3 aplasia, 2/3 ectopic
  • Dyshormonogenesis
  • TSH/TRH deficiency
  • Transplacental drugs

clinical:

  • lethargy, poor feeding, constipation
  • hoarse cry, macroglossia
  • jaundice, wide fontanelles
  • umbilical hernia
  • DD
30
Q

Juvenille hypothyroidism

A

clinical:

  • cold hands
  • thick skin
  • bradycardia
  • slow relaxing reflexes
  • short/overweight

goitre:

  • AI thyroiditis (Hashimoto’s)
  • dyshormonogenesis
  • endemic iodine deficiency
  • infiltration

no goitre:

  • hypoplastic/ectopic
  • hypothalamo-hypopituitary hypothyroidism
  • thyroidectomy

associations:

  • T21, 45XO, Noonan
  • Polyglandular AI disease type 1/2
31
Q

Goitre

A

AI thyroiditis

Grave’s

Colloid/simple: normal TFTs and no antibodies

Hyperplasia

Diffuse nodular non-toxic

  • sub-acute thyroiditis
  • carcinoma
  • infiltration (LCH)
32
Q

Neck lumps

A
  • thyroglossal cyst
  • cystic hygroma
  • haemangioma
  • sternomastoid tumour
  • lymphadenopathy: TB, EBV, CMV, Bartonella, toxoplasmosis, AIDS
  • branchial cyst
33
Q

Tanner staging

A
34
Q

Delayed puberty

investigations

A
  • bone age
  • tests for chronic disease
  • LH, FSH, oestradiol, testosterone
  • pituitary function: prolactin, IGF-1
  • US pelvis
  • MRI pituitary
35
Q

McCune Albright Syndrome

(polyostotic fibrous dysplasia)

A

genetic: G protein

clinical:

  • tall/short
  • large areas of pigmentation: Coast of Maine
  • precocious puberty
  • bone deformity
36
Q

MEN syndrome

A
37
Q

Tall stature

differentials

A
38
Q

Tall stature

investigations

A
39
Q

Proximal myopathy

differentials

A

Clinical Exam (16 decks)

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