Endo Flashcards
Short stature - core exam?
IC HIUG DEP V
Measurements
* Height
* Weight
* Head circumference x 3
Proportions
* Arm span
* LL segment and UL segment
Ask for
* Exact age
* Birth parameters
* Parents height
Calculate
* Height velocity
* Upper segment
* US: LS ratio
* Mid parental height
Manoeuvres
* Hemihypertrophy - palms together, arms out straight, legs together
* Carrying angle - palms facing forward
* Tip of thumbs to shoulder
- Undershoot - mesomelia (shortened forearm) (Turner’s, skeletal dysplasia, SHOX) or acromelia (shortening distal parts)
- Overshoot - rhizomelia (shortening proximal area) - achondroplasia
· Make a fist - short 4th metacarpal (Turner’s, pseudohypoparathyroidism)
· Bend forward - scoliosis
Inspection - Standing
· Neck - scars, neck web, hairline
· Skin - café au lait
Lying
· Vitals
Hands
· Nails - clubbing, Turner’s
· Fingers - clinodactyl (5th finger inwards) - Russel Silver
· Palmar creases, cyanosis, erythema (systemic chronic disease)
Wrist
· Rickets
· Madelung deformity
Arms
· Symmetry
· Muscle bulk + SC fat stores
Head
· Hair - hypothyroidism, micronutrient deficiency
· Face - dysmorphism
· Ears - position - Noonan, Turner
Eyes
· Inspect - Conjunctival pallor, sclera jaundice, blue, cornea cataracts (TORCH)
· Visual fields - field defect - tumour, midline defect
· Eye movements - upward gaze palsy (pineal tumour), LR palsy (ICP)
· Cataracts
· Fundi - papilloedema (raised ICP), ON hypoplasia (septo-optic dysplasia)
Nose
· Polyps (CF)
· Mid face hypoplasia (dysmorphism)
Mouth
· Teeth - fluorosis - DI
· Mouth- midline defects (single central incisor), cleft palate
Neck
· Palpate thyroid
Chest
· Dysmorphism - widely spaced nippes
· Scars (Cardiac)
· Rachitic rosary
· Brief cardioresp exam
Abdo
· Inspect - distension (ascites), access, striae, infection sites (IDDM, desferroxamine)
· Palpate - HSM (IDDM, CF, syndromes) splenomegaly, kidneys (PCKD)
· Percuss
· Auscultate - RAS
· Ask for anogenital exam
Legs
· Inspect - clubbing, rash (erythema nodosa), injection marks, bowing (rickets)
· Palpate - edema
· Lymphoedema - hypothyroid
· Nail changes
Neuro
· Gait
· Reflexes - hypothyroid
Puberty
· Comment
· Breast, testicles
· Pubic hair
· Stretched penile length
· Axillary hair
· Acne
Ask for
· Urine - IDDM, renal failure
· Stool - CF, IBD, coeliac
Short stature - measurements?
Measurements
Height
Proportions
Lower segment
* Pubic symphysis to ground
* Height - upper segment
Upper segment
* Height minus lower segment
* Sitting height
Arm span
* Middle fingertip to middle fingertip, arms against wall
Midparental height
* Boys: (fathers height + mothers height + 13) / 2 + 6.5
* Girls: (fathers + mothers - 13) /2 + 6.5
Height velocity
* (Height 2 - height 1) / interval (years)
Growth parameter interpretation?
- Length < weight < head circumference = endocrine
- Weight < length < HC = nutritional
- HC < weight < length = neurological
Weight = length = genetic or constitutional
Short stature - Ix?
Investigations
Ix for chronic disease
* FBE, Fe studies, B12, folate
* UEC, urinanalysis/MCS (proteinuria, haem, UTI, CRF)
* Fasting BSL (T1DM)
* TFTs
* Coeliac
* Stool analysis (blood/WBC for IBD, fat globules CF, fat crystals in coeliac)
* ESR (IBD)
* Sweat test (CF)
Imaging
* Bone age - constitutional or familial short stature, delayed puberty
* Skeletal survey - dysplasia
* Thoracic/lumbar xrays + Cobb angle- scoliosis/kyphosis
Genetics
* Microarray
* Karyotype for XO and SHOX
Endocrine
* IGF1 (GH)
* Sex hormones - Testosterone, oestrogen, LH, FSH
* MRI brain (craniopharyngoma, SOD)
* GH stimulation test - GH deficiency
* Midnight cortisol, dexamethasone suppression test (Cushing’s)
* Rickets - CMP, ALP, PTH, Vit D, DEXA scan
Further info:
* Antenatal/perinatal and neonatal Hx: IUGR/IUGR, TORCH
* Growth parameters over time
* Steroid SEs
Hx irradiation
Tall stature - core exam?
Inspection
* Intellect
* Body habitus
* Skeletal abnormalities
* Skin lesions
Measurements
* Height
* Weight
* HC x 3 - large (Sotos, NF1), small BWS
* Proportions - arm span Marfan, UL and LL segment ratio
* Ask for: exact age, birth parameters, parents height
Calculate
* Height velocity
* Upper segment
* US: LS ratio
* Mid parental height
Manoeuvres
* Palms together, arms straight out, legs together
- Hemihypertrophy
- Pes planus - flat feet -(Marfan)
- Genu valgum (homocystinuria), genu recurvatum (knee goes back) (Marfan)
· Bend forward and touch toes - Scoliosis (Marfan, homocystinuria, Sotos) - Kyphosis (Marfan, homocystinuria, Sotos, pituitary gigantism, acromegaly) · Hypermobility (Beighton's score) - 5/9 hypermobile - Dorsiflex little finger - Oppose thumb to volar aspect - Hyperextend elbow 10 degrees - Hyperextend knee by 10 degrees - Place hands flat on floor without bending knees · Hands out - Large hands, arachnodactylyl (spider like fingers) · Thumb sign - adduct thumb, goes over ulnar border · Wrist sign - thumb and 5th finger overlap
Hands
· Vitals - collapsing pulse (Marfan), tachycardia - thyroid
· Nails - thyroid acropathy (soft tissue swelling, clubbing)
· Palms - sweaty - thyroid
Arms
· Muscle bulk
· SC fat stores
Head and face
· Dysmorphism - head shape, frontal bossing (Sotos), prominent occiput (BWS)
· Hair - dry, light, sparse (homocystinuria)
· Ears - large (Marfan, Proteus), punched out pinnae (BWS), liner fissues (BWS)
Eyes
· Asymmetry
· Dysmorphism - hypertelorism, downslanting (Sotos)
· Eye exam - iris blue (homocystinuria), sclera
· Visual acuity
· Visual fields - bitemporal hemianopia, homonymous hemianopa
· Movements - CNVI palsy
· Fundoscopy - retinal detachment (Marfan, homocystinuria)
· Slit lamp - lens displacement, cataract (homocystinuria)
Nose
· Anosmia - Kallman
Mouth and chin
· Tongue - big in BWS
· Teeth - crowding - homocystinuria
· Palate - high and narrow (Marfan, Sotos, Homo)
· Cleft (Marfan)
Neck
· Thyroid
Chest
· Chest deformity - pectus excavatum/carinatum (Marfan/homocystinuria)
· Brief cardiorespiratory - MVP, AR (Marfan)
Abdomen
· Inspect - hernias, scars
· Palpate - hepatomegaly (BWS), enlarged kidneys (BWS), adrenal masses (BWS or isolated)
Legs
· Large feet (Sotos, pituitary gigantism)
· Gait - shuffling (homocystinuria), hemiplegia (homocystinuria)
Comment
· Puberty
· Intellect
Tall Stature DDx?
Tall Stature DDx - FOOSE
Familial
Obesity
Overgrowth
· Beckwith Wiedermann
· Sotos
· Weaver
· Proteus
Syndromes
· Marfans
· Homocystinuria
· Klinefelter, Triple XXX
· Kallman
· NF-1
Endocrine
· Hyperthyroidism
· Precocious puberty - McCune Albright, CAH, tumours
· GH excess (pituitary gigantism)
MEN2b (thyroid cancer, pheo, marfinoid habitus)
Tall Stature Ix?
Tall Stature Ix
Familial
· Compare MPH
· Normal puberty and bone age
Endocrine
· TFTs (hyperthyroid)
· IGF1/GH (GH excess)
· Puberty: FSH, LH, bone age
· McCune-Albright - skeletal x-ray (bony fibrous dysplasia)
· Pituitary - MRI brain, somatomedian C
Obesity
· Nutritional Hx
· BMI, dietary and exercise Hx, dysmorphology exam, BP, fundoscopy/opthal review inc ICP
· Complications - fasting BSL, LFTs, fasting lipids, sleep study for OSA, x-ray for SUFE if concerned, MRI brain
Overgrowth syndrome/syndromic
· Genetics - karyotype
· DNA - FBN1
· Overgrowth panel
Marfans
· FHx
· Slit lamp - upwards lens dislocation
· CXR, ECG and Echo
· DNA for FBN1
· X-ray scoliosis
Homocystinuria
· Slit lamp - downward lens dislocation
· Neuro exam -prothrombotic risk and CVA
· Genetics
· Homocystinuria (urine and blood)
· DEXA (osteopenia)
· X-ray for scoliosis
BWS
· Abdo USS (Wilm’s), AFP
Short Stature DDx
NNESSCII
N - Nutritional
N- Normal variant - familial, constitutional
E - Endocrine
S - Skeletal dysplasia
S - Syndromes
C - Chronic disease
I - Iatrogenic - steroid, radiation
I - IUGR
Short stature - calculate upper segment?
- Upper segment - height - lower segment
Mid parental height for boys and girls?
- Boys mid parental heigh - (mothers + fathers +13)/2
Girls midparental height - (mother + fathers - 13)/2
