Endocrinology exam Flashcards
Diabetes Mellitus
-other issues-
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
Side effects bisphosphonates
- initial ↓ Ca
- fevers, nausea, fatigues
- constipation, diarrhoea
- myalgia, bone pain
- AVN of TMJ
Calcium
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)
Indications GH
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
Side effects GH
- slipped upper femoral epiphysis
- benign intracranial hypertension
- gynaecomastia
- reversible hypothyroid
- increased risk of prostate, breast, colon cancer
Steroids
side effects
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
Mid parental height
Precocious puberty
diagnosis:
- rapidly increasing height (crossing centiles upward)
- taller than peers/family
Constitutional delay
diagnosis:
- most common cause delayed puberty
- slowed height velocity
- height crossing ventiles downwards
- family hx pubertal delay
investigations:
- LH/FSH/estrogen
- TFTs/GH
Chronic disease growth
pathophysiology: cytokine release impairs bone growth or poor nutrition
diagnosis:
- weight and height crossing centiles downwards
- poor compliance with treatment
Bone age
Causes of tall stature
Familial
Obesity
Syndromes:
- Marfan, homocystinuria
- Sotos
- Kleinfelter
- BWS
Endocrine:
- hyperthyroidism
- precocious puberty
Marfan’s
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
Homocystinuria
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%
Klinefelter’s
47XXY
clinical:
- tall stature
- delayed puberty
- small testicles (<2ml)
- gynaecomastia
- low IQ
XYY syndrome
clinical:
- tall
- normal IQ
- behavioural issues
- normal genitals/puberty
Sotos
definition: cerebral gigantism
clinical:
- macrosomia from birth
- facies: prominent forehead/chin, hypertelorism
- large hands, feet, ears, nose, genitals
- advanced skeletal development
Disproportionate limbs
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
GH deficiency
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
Turner syndrome
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
Noonan
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
Russell Silver Syndrome
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
Mucopolysaccharidoses
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
MPS differentials
Morquio: similar physical to Hurler sx but normal intelligence
Sanfilippo: less severe physical features but severe ID
other differentials: GM1, mannosidosis, fucosidosis, mucolipidoses
Achondroplasia
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
Cushing’s syndrome
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
Hyperthyroidism
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
Thyroid eye disease
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
Congenital hypothyroidism
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
Juvenille hypothyroidism
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
Goitre
AI thyroiditis
Grave’s
Colloid/simple: normal TFTs and no antibodies
Hyperplasia
Diffuse nodular non-toxic
- sub-acute thyroiditis
- carcinoma
- infiltration (LCH)
Neck lumps
- thyroglossal cyst
- cystic hygroma
- haemangioma
- sternomastoid tumour
- lymphadenopathy: TB, EBV, CMV, Bartonella, toxoplasmosis, AIDS
- branchial cyst
Tanner staging
Delayed puberty
investigations
- bone age
- tests for chronic disease
- LH, FSH, oestradiol, testosterone
- pituitary function: prolactin, IGF-1
- US pelvis
- MRI pituitary
McCune Albright Syndrome
(polyostotic fibrous dysplasia)
genetic: G protein
clinical:
- tall/short
- large areas of pigmentation: Coast of Maine
- precocious puberty
- bone deformity
MEN syndrome
Tall stature
differentials
Tall stature
investigations
Proximal myopathy
differentials
