ENDO SHORT Flashcards
Ddx causes of short stature?
Idiopathic (constitutional delay/familial short stature)
Skeletal dysplasias/spinal defects/Syndromes
Nutritional
Iatrogenic (steroids, radiation)
Chronic disease/Chromosomal
Endocrine - GH def/hypopit/hypothyroid/cushings/T1DM
Ddx causes of short stature and obesity?
Endocrine: - hypothyroid - hypopituitarism - GH deficiency - Cushing Syndromes: - Prader-Wili - Bardet-Biedl - Down - Turner
Upper segment > lower segment causes?
IE lower limbs short
Skeletal dysplasia
Hypothyroidism
Lower segment > upper segment?
IE trunk short
Scoliosis
Osteogenesis imperfecta
Klippel-Feil
Measurements to request in a short stature short case?
Child’s current height, weight, HC
Child’s birth length, weight, HC (TORCH/IUGR/chromosomal)
Child’s tanner staging
Parents height and onset of puberty
Investigations for short stature?
Bone age / skeletal survey Chromosomal analysis in girls (Turner) TFTs FBE - chronic disease UEC/urinalysis - chronic kidney disease BGL - diabetes ESR/coeliac screen - IBD/coeliac GH/IGF-3 - GH deficiency (only if velocity poor)
Short stature
Unilateral/bilateral visual impairment
Epilepsy/ID/CP
Septo-Optic Dysplasia
Short stature
Delayed puberty
Abnormal sense of smell
Kallman Syndrome
Short stature
Triangle face
Cafe au Lait
Asymmetrical limb length
Russel-Silver
Short stature Delayed puberty Polydactyly Visual impairment/blindness Ataxia
Bardet-Biedl
Ddx causes of tall stature?
Familial Hyperthyroidism Marfan Kleinefelter Beckwith-Wiedemann Homocystinuria Loey-Dietz
Investigations for tall stature?
Ophthalmology slit lamp - lens dislocation in marfans/homocystinuria
Urine/serum homocysteine & methionine - homocystinuria
ECG/CXR/echo - marfan
EOS - scoliosis in marfan/homocystinuria
