This document discusses short stature in children, defining it as height below 2 standard deviations for age and gender. It outlines factors that can affect height, including nutrition, hormones, and intrauterine growth. Short stature is classified as dysmorphic, proportionate, or disproportionate. Evaluation involves medical history, physical exam, auxiliary tests like bone age and growth hormone stimulation, and considering familial, constitutional, nutritional, endocrine, and genetic causes. Management depends on the underlying etiology and may include counseling, dietary changes, surgery, hormone replacement, or growth hormone therapy.
Approach to Short Stature
Dr Raheel Ahmed
FCPS in Paediatric Medicine
Children Hospital, Chanka Medical College, Larkana
Topics
Definition.
Etiology
Measurements.
Examination.
Investigations.
Management.
Take home message.
Who is short child?
Short stature is defined as height that is two standard deviations below the mean height for age and sex (less than the third percentile).
OR
more than two standard deviations below the mid-parental height.
Etiology
Proportionate Short Stature
1) Normal Variants:
i) Familial
ii) Constitutional Growth Delay
2) Prenatal Causes:
i) Intra-uterine Growth Restriction-
Placental causes, Infections, Teratogens
ii) Intra-uterine Infections
iii) Genetic Disorders (Chromosomal
& Metabolic Disorders)
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
iii) Psychosocial Short Stature
(emotional deprivation)
iv) Endocrine Causes:
- Growth Hormone Deficiency/ insensitivity
- Hypothyroidism
- hypopituitrism
- Diabetes Mellitus
- Cushing Syndrome
- Pseudohypoparathyroidism
- Precocious/ delayed puberty
Disproportionate Short Stature
1) With Short Limbs:
Achondroplasia,
Hypochondroplasia,
Chondrodysplasia punctata,
Chondroectodermal Dysplasia,
Diastrophic dysplasia,
Metaphyseal Chondrodysplasia
Osteogenesis Imperfecta,
Refractory Rickets
2) With Short Trunk:
Spondyloepiphyseal dysplasia,
Mucolipidosis
Mucopolysaccharidosis
Mid Parental Height
TCR
Calculated by MPH +-10
How to measure upper and lower segments?
You should measure the upper segment( US ) then by using the total height you will obtain LS.
Upper segment is the sitting height.
Disproportionate short statue with short LS:-
Achondroplesia
Osteogenesis imperfecta.
Refractory rickets.
Disproportionate short stature with short US:-
Spondyloepiphysial dysplasia.
Mucopolysaccharidosis.
Growth velocity
0-1 year : 25cm/year
1-2 year: 12cm/year
2-3 year: 8cm/year
3-4 year: 7cm/year
4-9 year : 5-6 cm/year
As a rule any growth rate <4.5cm/year between 2-12 year is pathological.
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2. Definition
A child whose height is below 2 standard
deviations for age and gender
Males
Age (y)
30
34
38
42
46
50
54
58
62
66
70
74
78
Height(in)
Height(cm)
2 4 6 8 10 12 14 16 18 20
70
80
90
100
110
120
130
140
150
160
170
180
190
200
0
+2
+1
-1
-2
-2.0 SD (2.3
percentile)
Generally
accepted
definition of
normal
range
3. 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.
4. •The term ‘Dwarfism’ is no longer used for short
stature
•It should not be confused with FTT as it is
associated with greater impairment in wt.gain than
linear growth resulting in decresd W/H.& THE
LINEAR GROWTH affected is almost always
SECONDARY.
7. Comparison
Feature Familial Short Stature
(FSS)
Constitutional Growth
Delay and Puberty
(CDGP)
Length at Birth Short Normal
Parents Short Similar history
Bone Age &
Chronological
Age
BA = CA BA < CA
Puberty Normal Delayed
Final Height Normal Normal
8. Clues to etiology from history
History Etiology
History of delay of puberty in parents Constitutional delay of growth
Low Birth Weight SGA
Neonatal hypoglycemia, jaundice,
micropenis
GH deficiency
Dietary intake Under nutrition
Headache, vomiting, visual problem Pituitary/ hypothalamic SOL
Lethargy, constipation, weight gain Hypothyroidism
Polyuria CRF, RTA
Social history Psychosocial dwarfism
10. 1) Height measurement
• Without footwear
• Heels & back touching
the wall
• Looking straight ahead
in frankfurt plane.
• Gentle but firm pressure
upwards applied to the
mastoids from
underneath
• Record to last 0.1cm
11. 2) Assessment of body proportion
Upper segment: Lower segment ratio
Increase: rickets, achondroplasia,
untreated hypothyroidism
Decrease: spondyloepiphyseal
dysplasia,
vertebral anomalies
Comparison of arm span
with height
12. 3) Comparison with child’s own genetic potential
Mid parental height for boys
= (mother's height + 13) + father's height /2
Mid parental height for girls
= mother's height + (father's height – 13) /2
• usually the projected height is +/- 8cm or 2 S.D.
4) Sexual maturity rating ( SMR):
•Also known as Tanners stages
•Used in older children
•Total 5 stages included in each gender
13. Investigation
Level 1 ( essential investigations):
• Complete hemogram with ESR, hepatic& renal profile- to
r/o chronic disease.
• BONE AGE (x ray of left wrist)
• Urinalysis ( Microscopy, pH, Osmolality)
• Stool ( parasites, steatorrhea, occult blood)
• Blood ( Calcium, Phosphate, alkaline phosphatase,
venous gas, fasting sugar, albumin, transaminases)
• karyotyping & pelvic u/s .
14. • 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 2 investigations
15. BONE AGE (BA)
• Bone age assessment should be done
in all children with short stature
• Appearance of various epiphyseal
centers & fusion of epiphyses with
metaphyses tells about the skeletal
maturity of the child
• Conventionally read from Xray of
hand & wrist using Gruelich-Pyle
atlas or Tanner- Whitehouse method
16. What does bone age tell you?
• Skeletal maturity
• Correlates closely with SMR
• Speaks for remaining growth potential
• Helps in adult height prediction
• Bone age delay of more than 2 SD i.e. about 2
years is significant
17. Investigations Level II
• IGF-I
• IGF Binding protein 3
• Growth hormone and other dynamic stimulation
tests
• Neuroimaging
• These tests are best left for the specialised units
18. •Celiac serology ( anti- endomysial or anti- tissue
transglutaminase antibodies)
•Duodenal biopsy
•GH stimulation test with Clonidine or insulin & serum
insulin like GF-1 levels
Investigations Level III
