Normal Growth: Double weight by 5 months, triple by 1 year. 25cm/year --> 12cm/year --> 8 cm/year, then 4-7cm/year o Male: Longer pubertal height spurt, higher peak height velocity.
Assessment: Growth chart o Abnormal: Fall out of 2 SD/out of 3-97th percentile. o Measuring height: If <3yo: lying on measuring board >3yo: calibrated standing height, heels + buttocks + shoulders + head touching the flat upright surface o Measuring head size/OFC occiput to just above the supraorbital ridges o Do not use single value. Repeat measurements and look at trend. Look for crossing of percentile lines o Weight:Height ratio Obesity, cushing syndrome.
(1) Weight Disorders:
A. Increase weight: (To look for increase weight + short stature) --> will need TFT, Cortisol KIV chromosomal study a. Endocrine causes: Hypothyroid, cushing syndrome b. Genetic causes: Down's syndrome, Prada-willi syndrome
B. Decrease weight: (To look for proportionately low height and head sizes --> more likely nutritional related) --> FBC. Serum ferritin, TFT, screening for IEM a. Nutritional b. Endocrine: Hyperthyroid c. Congentital/Genetics: IEM d. Chronic Infection/Chronic organ failure
(2) Height Disorders: A. Increase height: a. Endocrine: Hyperthyroid, GH b. Genetics: Klienfelter, Marfan, Homocystinuria B. Decrease height: a. Normal: Familial short stature/constitutional b. Nutritional c. Congenital: IUGR, chromosome (Turner's, Down's) d. Chronic systemic disease/infection e. Skeletal dysplasia - achondroplasia, rickets, osteogenesis imperfecta f. Endocrine: Hypothyroid, cushing, GH def g. Drugs: Steroids
C. If patient is short, need to calculate MPH to determine if genetically appropriate: a. (father’s height (cm) + mother’s height (cm) + 13 cm ) divided by 2 (for boys) b. (father’s height (cm) + mother’s height (cm) - 13 cm ) divided by 2 (for girls)
History: (1) Family history: Parent's and sibling - height, puberty onset, medical issues Hx of consanguinity or familial medical issues (2) Birth hx Maternal problems during pregnancy Issues during birth/post-natal Birth weight (3) Development: Milestones: Fine Motor, gross motor, speech and language, social (4) Nutritional, General health, activity (5) Pubertal development (6) Significant medical history, drug use.
(2) Head size disorders: Increase: Hydrocephalus, Megaencephaly (NF, Tuberous sclerosis, metabolic storage disease) o Benign familial megaencephaly: PE normal, development uptodate, rate of head growth parallels normal growth curve. o Non-benign megaencephaly: if head growth disproportionate to growth curve. Decrease: Craniosynostosis, Prenatal insult, chromosome defects o Often pathological
OSCE: Approach to Short Stature:
Ben is a 5-year-old boy. His mother notes that he is much shorter compared to his peers at the kindergarten class and brings him to see you. Ben was born full-term. His developmental milestones were: he smiled at 2 months, sat without support at 6 months and said “mama” at 11 months. He walked unsupported at 13 months and now dresses himself without supervision. Questions Q1 What differential diagnosis would you consider? Q2 How would you attempt to differentiate the possibilities you have considered? Q3 Discuss the management of Ben.
Causes of short stature:
(1) Familial short stature (2) Constitutional growth/pubery delay (3) Idiopathic short stature
(1) History Antenatal hx, Birth hx, Post-natal hx Family history - parents/sibling (medical, growth, puberty) PMHx, Drug Hx, PSx
(2) PE Plot growth chart (Constituitional growth delay), growth velocity (>5cm/year), weight/heigh o If velocity < 5cm/year OR if excessive weight gain OR delayed bone age -- consider pathological cause o If projected height consistent with MPH -- familial short stature o If growth velocity normal but delayed bone age -- constitutional growth delay (can check puberty age of parents/siblings) Calculate MPH (if within 10cm (2SD) - normal) -- Familial short stature (3) Investigations: Bone age