The child with short

stature
UMMP 3.2
Outline
• Normal growth
• Factors and Causes
• Approach to short stature
• History
• Physical examination
• Investigations
What is GROWTH

• Childhood growth is regarded as a

sensitive index of health and well
being in an individual child.
• From a public health perspective:
growth can be regarded as a mirror
of the condition of society.
Short stature or growth retardation is recognised
as a relatively early sign of poor health1
 Normal growth pattern
20
Normal growth Rapid growth: ages 0–2 years Boys
pattern1,2 Girls
15
Childhood growth
Growth velocity
Increased growth at adolescent
height spurt
(cm/year)
10
Linear growth stops

0
0 5 10 15 19
Age (years)

Development of
long bones Epiphysis fuses:
end of growth3,4
Epiphysis forms at 1–2 years of age,
stimulated by GH–IGF-I system3,4
Images © 2011, Oxford University Press. Reproduced with permission 3
GH–IGF, growth hormone–insulin-like growth factor
1.Tanner et al. Arch Dis Child 1966;41:454–71; 2. Tanner et al. Arch Dis Child 1966;41:613–35; 3. Gaskin CM, et al. Skeletal Development of the Hand & Wrist. A
Radiographic Atlas & Digital Bone Age Companion. New York, NY: Oxford University Press, Inc.; 2011:17,29,51,65,75; 4. Juul A. Human Reprod Update.
2001;7(3):303-313
ICP Model of Growth

Karlberg J, 1987
 Influences of Growth
Hormones
Nutrition
GH GH + sex hormones

Genetics
Factors affecting growth: in-utero

baby

environment mum
Factors affecting growth: infancy

• NUTRITION
• NUTRITION
• NUTRITION
• Good genes
• Good health
• Safe and loving environment
• Thyroxine, growth hormone, cortisol
Factors affecting growth: children
• Nutrition
• Good health
• Safe and loving environment
• Growth hormone
Factors affecting growth: teenage years
• Nutrition
• Good psychosocial
health
• Good health
• Safe and supportive
environment
• Sex hormones, growth
hormone
Assessment of Growth: APPROACH

1. Obtain accurate height measurement

2. Understanding normal growth

3. Compare to population standards

 Good Measuring Technique

• Shoes off!
• Child looks straight ahead
• Head in ‘Frankfurt plane’
• Heels, buttocks, scapulae and back of head
against the back board
• Gentle pressure on mastoid
• Measurement on expiration
 Father 1
PARENTAL HEIGHT Mother 1
DOES IT MATTER??
Father 2
How to calculate MPH?? Mother 2 2

Boys: Mum + 13 + dad

2

Girls: Mum + Dad – 13

2

MPH target range (MPHTR)

= MPH ± 10cm
 When short is SHORT?
Defining Short stature….

•Height more than -2 SDS from population

mean
•Height more than -1.5 SDS below the MPH is
considered as short for genetic potential
 European Society for Paediatric
Endocrinology Classification of Short
Stature
Short stature

Primary growth Secondary Idiopathic short

failure growth failure stature

Clinically defined Malnutrition Familial short

syndromes, e.g. stature
Disorders in organ systems, e.g. renal disorders
TS, NS and PWS
GH deficiency Non-familial
SGA short stature
Other disorders of the GH–IGF axis
Skeletal dysplasia
Other endocrine disorders, e.g. Cushing syndrome
Metabolic disorders
Psychosocial disorders
Iatrogenic disorders, e.g. glucocorticoid therapy and
treatment of childhood malignancy

GH, growth hormone; IGF, insulin-like growth factor; NS, Noonan syndrome; PWS, Prader–Willi syndrome;
SGA, small for gestational age; TS, Turner syndrome
Wit et al. Horm Res 2007:68(Suppl. 2).
Proportionate
• !! Hormonal
Disproportionate
• GHD, GH resistance
• Short limbs?
• Cushings
• Achondroplasia
• Hypothyroidism
• Hypochondroplasia
• Hypopituitary
• Cartilage hair hypoplasia
• Albright PHP
• Dysmorphism • Short spine?
• Turner Syndrome • Mucopolysaccharidosis
• Down Syndrome • Spondyloepiphyseal
• Prader-Willi dysplasia
• Chronic diseases
• Malnutrition (various causes)
• SGA/IUGR with no catch up growth
• Precocious Puberty: CAH,
• Familial Short Stature
• CDGP • Non-Organic causes
• Difficult child
• Syndromic: Russell-Silver • Parental factors
• Psychosocial
• Financial
• Unfavourable
environment
 CAUSES OF SHORT STATURE
I Idiopathic (CDG), Intrauterine (SGA, TORCH, FAS)
S Skeletal (dysplasia, OI), Spinal defect (scoliosis, kyphosis)

N Nutritional (malabsorption, rickets), Nurturing (deprivation)

I Iatrogenic (steroids, radiation)
C Chronic dis (CRF, CHD, CF, IBD); Chromosomal (DS, TS)
E Endocrine (GHD, CS, Hypothyroidism, CAH, Hypopituitarism,
Pseudohypoparathyroidism)
Approach
• History
• Physical examination
• Investigations
 History
• Antenatal history
• Maternal illness, maternal drug ingestion, smoking,
alcohol, nutrition, infection
• Planned/ unwanted pregnancy, single mother
• Socioeconomic background

• Postnatal
• Gestational age; premature vs term
• Birth weight: LBW, SGA, AGA, LGA
• Immediate complications
• Recurrent hospitalisation?
• Breast feeding vs bottle feeding vs tube feeding
• Duration, preparation, amount, wet diapers
History
• Childhood
• Diet:
• Type: milk, weaning diet, portions of carbohydrate, protein
and vegetables/fruits
• Amount, nutritional values, mealtimes, how long do they
take to finish a meal,
• With or without supervision? Caretakers involve in feeding
time?
• Still hungry after meals? Snacking all day?
• Calculate the caloric intake
• Behaviour: picky eater, temper tantrums
• Family eating practices and beliefs
• Medical
• Recurrent illnesses, previous hospitalisation, surgery
• Recurrent vomitting, diarrhoea
• Poor weight gain initially? Previous growth parameters?
• Current medications
• Supplements?

• Psychosocial:
• Developmental milestone
• Environment
• Finances
• Family structure and household composition
• Parent-child relationship
• Parenting attitudes
Physical Examination
• General:
• Interaction
• Dysmorphism, skeletal anomalies, mouth/oral passage
anomalies, muscle and fat wasting
• Anthropometrics measurements: weight, height, parents height
• Sitting height and measure upper segment:lower segment ratio

• Specific examination:
• Hepatosplenomegaly
• Heart murmur
• Respiratory compromise
• Central obesity
• Turner syndrome sign: wide spaced
nipple, wide carrying angle, low hair
line
 Measurement
• Height
• Perform by experience staff
• Measured in triplicate
• Variation be no more than 0.3 cm, mean height is recorded
• Serial measurement should be done at the same time of
the day

• Height velocity
• Perform by same individual
• Minimum interval 3 months, 6 months is preferable
 Body proportions
• Lower segment (LS): symphysis pubis to ground
• Upper segment (US): Total height – LS

Normal upper segment/lower segment ratios

Age Ratio
Birth 1.7
3 years 1.3
>8 years 1.0
Investigations:
• Bloods:
• CBC
• CRP, ESR
• LH/FSH/E2 if peri/pubertal
• TFT
• IGF-1
• Others:
• Early am cortisol • Bone age
• Karyotyping for all short
girls
• Insulin tolerance test
(after discussion with
endocrine team)
• MRI if necessary