approach to short stature

1. SHORT STATURE
Dr Sandip Gupta
PGT,PEDIATRICS
B.S.M.C.H.

2. Definition:
 Height below 3rd centile or less than 2 standard deviations below the
median height for that age & sex according to the population
standard
OR
 Even if the height is within the normal percentiles but growth
velocity is consistently below 25th percentile over 6-12 months of
observation
 The term ‘Dwarfism’ is no longer used for short stature
 Apprximately 3% children in any population will be short .
 Half of them normal variants(familial or constitutional short
stature).
Essential Pediatrics, 7th Edition, OP Ghai

3. Normal height pattern
•
•
•
•
Birth length
One year
Two yrs
Three yrs
4 yrs
• 8 yrs
• 12 yrs
50cm
75 cm
87.5 cm
93.75 cm
100 cm
125 cm
150 cm
velocity
6 cm
per year

4. Factors affecting growth
• Birthsize
• Nutrition
• General well being
• Psycosocial factors
• Endocrinal factors

5. Causes Of Short Stature:
A) Proportionate Short Stature
1) Normal Variants:
i) Familial short stature
ii) Constitutional Delay of Growth & puberty
2) Prenatal Causes:
i) Intra-uterine Growth RestrictionPlacental causes, Infections, Teratogens
ii) Intra-uterine Infections
iii) Genetic Disorders (Chromosomal
& Metabolic Disorders)

6. 3) Postnatal Causes:
i) Undernutrition
ii) Chronic Systemic Illness
- Cardiopulmonary: CHD, Chronic Asthma,
Cystic Fibrosis
- Renal: RTA, CRF, Steroid dependent
Nephrotic Syndrome
- GI and Hepatic: Malabsorption, IBD, chronic
liver disease
- Chronic Severe Infections
- Hematological : Thalassemia, Sickle cell
anemia

7. iii) Psychosocial Short Stature
(emotional deprivation)
iv) Endocrine Causes:
- Growth Hormone Deficiency/ insensitivity
- Hypothyroidism
- Juvenile Diabetes Mellitus
- Cushing Syndrome
- Pseudohypoparathyroidism
- Precocious/ delayed puberty

8. B) Disproportionate Short Stature
1) With Short Limbs:
- Achondroplasia, Hypochondroplasia,
Chondrodysplasia punctata,
Chondroectodermal Dysplasia,
Diastrophic dysplasia, Metaphyseal
Chondrodysplasia
- Deformities due to Osteogenesis Imperfecta,
Refractory Rickets
2) With Short Trunk:
- Spondyloepiphyseal dysplasia,
Mucolipidosis, Mucopolysaccharidosis
- Caries Spine, Hemivertebrae

9. History
Birth history
Maternal illness or use of certain drugs
Birth weight & height
Unexplained hypoglycemia, prolonged jaundice,or microphallus are
suggestive of Congenital GH deficiency
Growth pattern: a child who is short but growing at a normal rate &
parallel to the 5th centile curve is more likely to have familial or
constitutional short stature.
A child who progressively deviates away from normal curve
(specially after 24 months) is likely tobe suffering from underlying
medical disorder.
Developmental history

10. • Dietary history & apetite
• History of:
• Abdominal pain, diarrhea, mouth ulcer, joint pain ,wt loss-IBD
• Goitre, constipation, cold intolerance, wt gain,lethargyhypothyroidism
• Headache ,vomiting ,visual disturbances raise suspicion of
acquired hypopitutarism due to tumour or hydrocephalus.
• Polyuria ,oliguria,hematuria –CRF

11. • Recurrent LRTI,otitis media, malabsorbtion- cystic fibrosis
• Pubertal development-delay occurs in constitutional
delay,hypogonadism ,hypoitutarism,hypothyroidism
• Emotional deprivation- psychosocial dwarfism
• Steatorrhea , diarrhea –malabsorbtion
• Drug history
• Family history

12. Assessment of a child with short
stature
Accurate height measurement& height velocity
• Below 2 yrs- supine length with
infantometer
• For older children- Stadiometer
Assessment of body proportion
Upper segment: Lower segment ratio
Increase: rickets, achondroplasia,
untreated hypothyroidism
Decrease: spondyloepiphyseal
dysplasia,
vertebral anomalies

13. Arm span:
Short:skeletal dysplasia
Long:marfan syndrome
Weight
Increased wt/ht :endocrinal
Decreased or normal wt/ht: chronic systemic illness
Comparison with population norms
Height plotted on appropriate growth charts &
expressed as centile or SD score

14. Comparison with child’s own genetic potential
Mid parental height for boys
= mother's height + father's height /2 + 6.5cm
Mid parental height for girls
= mother's height + father's height /2 – 6.5cm
Sexual maturity rating ( SMR):
Also known as Tanners stages
Used in older children

15. Pointers to etiology of short stature
Pointer
Etiology
Midline defects, micropenis, Frontal bossing,
depressed nasal bridge, crowded teeth,
GH deficiency
Rickets
Renal failure, RTA, malabsorption
Pallor
Renal failure, malabsorption, nutritional
anemia
Malnutrition
PEM, malabsorption, celiac disease, cystic
fibrosis
Obesity
Hypothyroidism, Cushing syndrome, Prader
Willi syndrome
Metacarpal shortening
Turner syndrome, pseudohypoparathyroidism
Cardiac murmur
Congenital heart disease, Turner syndrome
Mental retardation
Hypothyroidism, Down/ Turner syndrome,
pseudohypoparathyroidism

16. Clues to etiology from examination
Examination finding
Etiology
Disproportion
Skeletal dysplasia, rickets, hypothyroidism
Dysmorphism
Congenital syndromes
Hypertension
CRF
Goitre, coarse skin
Hypothyroidism
Central obesity, striae
Cushing syndrome

17. Males:
SMR
• Stage 1
• Stage 2
• Stage 3
• Stage 4
• Stage 5
thighs
Pubic Hair
Preadolescent
Scanty, long, slightly pigmented, primarily at
base of penis
Darker, coarser, starts to curl, small amount
Coarse, curly; resembles adult type but covers
smaller area
Adult quantity and distribution, spread to medial surface of

18. • SMR
Genitals
Penis
• Stage 1
• Stage 2
Testes
Preadolescent
Beginning enlargement
of testes and scrotum; scrotal
skin reddened, texture altered
• Stage 3
Longer
Further enlargement of
testis and scrotum
• Stage 4
Larger in breadth, Testes & scrotum nearly
glans penis develops adult
• Stage 5
Preadolescent
Slight or no
enlargement
Adult
Adult

19. SMR Females
SMR
Pubic Hair
• Stage 1
Preadolescent
• Stage 2
Sparse, slightly pigmented, straight, at medial border of labia
• Stage 3
• Stage 4
• Stage 5
Darker, beginning to curl, increased amount
Coarse, curly, abundant, but amount less than in adult
Adult feminine triangle, spread to medial surface of thighs

20. SMR Breasts
• Stage 1
Preadolescent; elevation of papilla only
• Stage 2
Breast and papilla elevated as small mound;
areola diameter increased
• Stage 3
Breast and areola enlarged with no
separation of their
contours
• Stage 4
Projection of areola and papilla to form
secondary mound above the level of the breast
• Stage 5
Mature; projection of papilla only, areola has
recessed to the general contour of the breast

22. Investigation:
Level 1 ( essential investigations):
•
•
•
•
•
Complete hemogram with ESR
BONE AGE
Urinalysis ( Microscopy, pH, Osmolality)
Stool ( parasites, steatorrhea, occult blood)
Blood ( RFT, Calcium, Phosphate, alkaline phosphatase, venous gas, fasting
sugar, albumin, transaminases)

23. Investigation
Level 2:
• Serum thyroxine, TSH
• Karyotype to rule out Turner syndrome in girls
If above investigations are normal and height between -2 to -3 SD
Observe height velocity for 6-12 months
If height < 3SD level 3 investigations
Level 3:
Celiac serology ( anti- endomysial or anti- tissue
transglutaminase antibodies)
Duodenal biopsy
GH stimulation test with Clonidine or insulin & serum
insulin like GF-1 levels

24. Management
• Counselling of parents
( for physiological causes)
• Dietary advice
( Undernutrition, Celiac disease,)
• Limb lengthening procedures
( skeletal dysplasias )
• Levothyroxine ( In Hypothyroidism)
• GH s/c injections ( GH deficiency, Turner syndrome, prader-willi syndrome,
SGA, CRF prior to transplant)

25. FAMILIAL SHORT STATURE
CONSTITUTIONAL DELAY
•SEX
M=F
M>F
•Length at
birth
Normal
Short stature
Normal but falls below 5th
centile 1st 3yrs
Delayed puberty
•Parents
stature
Short
Average
•Height
velocity
Normal
Normal
•Puberty
Normal
Delayed
• Bone age
BA=CA
BA<CA
•Final
height
Short
Normal
•Family
history