G&D Short Stature

SHORT STATURE
Definitions
1. Short stature is defined as a height less than two standard
deviation or below the third percentile for that population.
2. More than two standard deviations below the midparental

height
3. The child is consistently having a height deceleration across

two major percentile lines on the growth chart
Height measurement
• Measure standing
height in triplicate using
a calibrated wall-
mounted stadiometer.
• One well-accepted
device is available from
Harpenden Ltd of Wales
Parameters for the assessment of growth
1. Target height
2. Growth velocity
3. Bone age
4. Body proportions
5. Arm span
6. Weight-for-Height Ratio
Target height
1. Mid parental height plus 6.5 cm for boys; minus 6.5 cm
for girls
2. Child achieves within 8 cm of midparental height
3. A range 8 cm above or below this predicted height is

considered within the 3rd to 97th percentile.
4. A child whose current height percentile differs greatly

from his or her target percentile is considered
“inappropriately” short for his or her genetic potential
Growth velocity
• Growth velocity is change in height (cm) / year.
• Growth velocity is 25 cm in first year; 12.5 cm in second year; 6 cm/year till

puberty
• Height:
• At birth: 50 cm
• 1 year: 75 cm
• 4 years: 100 cm
• 8 years: 125 cm
• 12 years: 150 cm
• Poor linear growth is defined as linear growth velocity more than 2 SDs
below the mean
Growth velocity curve
Bone age
• Epiphyseal centres obtained on radiography is compared with
published standards. E.g. Greulich and Pyle (GP) and the
Tanner e Whitehouse (TW2) method.
• Xrays:
– knee: < 3years
– wrist: < 6 years
– Elbow: > 6 years

Bone age
• Familial short stature (FSS) is associated with normal skeletal
maturation
• Bone age is delayed in:
– constitutional growth delay,
– malnutrition, and
– endocrine causes of short stature (eg, hypothyroidism,

cortisol excess, growth hormone deficiency)
Body proportions
The upper-to-lower body segment (U/L) ratio
• proportionate or disproportionate.
• The ratio:
• At birth: 1.7
• 3 years: 1.3
• 6 years: 1.1
• 10 yeras: 1
• Decreased U/L ratio for age:
1. Skeletal dysplasias involving primarily the spine (eg,
spondylodysplasias)
2. Eunichoidism
3. Delayed or incomplete puberty (eg, Klinefelter or
Kallmann syndrome)
• Increased U/L ratio
1. Those dysplasias involving especially the long bones (eg,
achondroplasia)
2. Because puberty is associated with relatively greater
truncal than limb growth, an increased U/L ratio for age
may be seen in precocious puberty.
Arm span
• Equal to height in 8 years of age
• Arm span can be measured as the distance
from left fingertips to right fingertips in a
patient standing, arms spread, against a wall.
• Used as a surrogate for height who have
scoliosis, spina bifida, or leg contractures or
after spinal irradiation.
Weight-for-Height Ratio
• Obescity in endocrine disorders:
1. GH deficiency
2. Thyroid hormone deficiency
3. Glucocorticoid excess (Cushing’s disease)
• Thin for stature in systemic disorders like:
1. Malnutrition
2. Chronic illness etc
Classification of short stature
1. Physiological short stature or normal variant
a. Familial short stature (FSS)
b. Constitutional delay
2. Pathological
1. Undernutrition
i. Chronic systemic illness – diabetes mellitus
ii. Cerebral palsy
iii. Congenital heart disease, cystic fibrosis, asthma
iv. Malabsorption, e.g. celiac disease, chronic liver disease
v. Acquired immunodeficiency syndrome, other chronic infections
2. Endocrine causes
i. Growth hormone deficiency, insensitivity
ii. Hypothyroidism
iii. Cushing syndrome
iv. Pseudohypoparathyroidism
v. Precocious or delayed puberty
3. Psychosocial dwarfism
4. Children born small for gestational age
5. Skeletal dysplasias, e.g. achondroplasia, rickets
6. Genetic syndromes, e.g. Turner, Down syndrome
Practical Classification of short stature
Clinical types
Familial Short stature
1. Short parents
2. Normal weight and length at birth
3. Growth velocity is decreased in first two years and

then resumes normal growth
4. Bone age and puberty are normal
5. Adult height is appropriate for the family

FSS
Constitutional growth delay
1. Normal parents
2. Normal weight and length at birth
3. Growth pattern is similar to FSS
4. Delay in bone age
5. Delay in onset of puberty
6. Growth is decreased in first 3 years
7. But growth continues beyond the average period of growth
8. Finally reaches the target height
Constitutional delay
Short stature with syndromic features
1. Trisomy 21: hypotonia, upward slanting of palpebrum
2. Turner's syndrome: webbed neck, low hairline, broad chest, increased
carrying angle, hypertelorism, posteriorly rotated ears
3. Russell-Silver syndrome: triangular face, asymmetry, clinodactyly,
maternal uniparental disomy (UPD) on chromosome 7
4. Prader-Willi syndrome: obesity, small hands and feet; hypotonia,
hypogonadism, down-turned mouth, seven genes on paternal
chromosome 15 are deleted
5. DiGeorge syndrome: minor facial dysmorphism, cleft palate
6. Noonan's syndrome: hypertelorism, backward rotated ears
Turner Russell Silver
Prader Willi Digeorge
Noonan
Disproportionate short stature
1. Skeletal dysplasias: e.g. Achondroplasia
2. The cartilage cells developed into bone more slowly
than normal in the long bones of the arms and legs,
leading to shorter bones and shorter overall height.
3. The trunk is relatively normal in length but the arms
and legs are short with more proximal shortening.
4. ‘fibroblast growth factor receptor-3’(FGFR3) is
defective
Growth Hormone Deficiency
• Hypopituitarism :
1. Incidence is 1 in 4000-10,000
2. Multiple hormone deficiency- 20%
3. Isolated growth hormone deficiency- 13%
• Growth hormone:
1. Secreted by ant.pituitary; stimulated by GHRH; inhibited by
somatostatin
2. GH released in response to sleep, exercise and hypoglycaemia
3. Promotes growth by stimulating insulin like growth factor: IGF1

GH Deficiency
1. Mutation : Septo optic dysplasia:
1. incomplete development of septum pallucidum,
2. optic nerve hypoplasia, Midline abnormalities in brain
3. Nystagmus , Visual impairment, Ant and post hormone deficiency
2. Isolated pituitary hypoplasia
3. Acquired pituitary defects:
1. Craniopharyngeoma; Germinoma; Histiocytosis
2. Tuberculosis; Sarcoidosis ; Toxoplasmosis
3. Meningitis; Trauma- shaken baby syndrome
4. ICBI (birth injuries)

Clinical manifestations
Congenital hypopituitarism
1. Normal length at birth; Growth rate below 25%
2. Hypoglycaemia, prolonged jaundice and apnoea and cyanosis and seizures at

birth
3. Microphallus in boys, Round head, broad and short face
4. Small saddle shaped nose; nasolacrimal folds
5. Bulging eyes, Small chin, Crowded teeth
6. High pitched voice
7. Proportional extremities
8. Delay or absent sexual maturation
9. Delayed skeletal age; Normal intelligence

Hypopituitorism
Lab findings
1. Low levels of GH in response to stimulation

by insulin, argentine, clonidine, glucagon
2. Levels of IGF1
3. Levels of TSH, ACTH,

X-Ray
• CT:
– supracellar calcification- craniopharyngeoma
• Bony erosion: histiocytosis
• MRI:
– Triad: small ant pituitary, hypolastic pituitary stalk,
ectopic post pituitary bright spot
• Delay in bone age
X-Ray pituitary
Normal adenoma
MRI
Small pituitary fossa containing a reduced

volume of anterior pituitary tissue.
The stalk cannot be seen
Normal The posterior pituitary bright spot (arrow) is
lying in an ectopic location within the
hypothalamus.
Treatment
• Subcutaneous recombinant GH for 7 days-

total dose .1 to.3 mg?kg
• IGF 1 for resistant cases

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SHORT STATURE

2. More than two standard deviations below the midparental

3. The child is consistently having a height deceleration across

2. Child achieves within 8 cm of midparental height

3. A range 8 cm above or below this predicted height is

4. A child whose current height percentile differs greatly

• Growth velocity is 25 cm in first year; 12.5 cm in second year; 6 cm/year till

– knee: < 3years

– wrist: < 6 years

– Elbow: > 6 years

• Bone age is delayed in:

– constitutional growth delay,

– endocrine causes of short stature (eg, hypothyroidism,

2. Normal weight and length at birth

3. Growth velocity is decreased in first two years and

4. Bone age and puberty are normal

5. Adult height is appropriate for the family

2. Multiple hormone deficiency- 20%

3. Isolated growth hormone deficiency- 13%

2. GH released in response to sleep, exercise and hypoglycaemia

3. Promotes growth by stimulating insulin like growth factor: IGF1

1. incomplete development of septum pallucidum,

2. optic nerve hypoplasia, Midline abnormalities in brain

3. Nystagmus , Visual impairment, Ant and post hormone deficiency

2. Isolated pituitary hypoplasia

3. Acquired pituitary defects:

1. Craniopharyngeoma; Germinoma; Histiocytosis

2. Tuberculosis; Sarcoidosis ; Toxoplasmosis

3. Meningitis; Trauma- shaken baby syndrome

4. ICBI (birth injuries)

2. Hypoglycaemia, prolonged jaundice and apnoea and cyanosis and seizures at

3. Microphallus in boys, Round head, broad and short face

4. Small saddle shaped nose; nasolacrimal folds

5. Bulging eyes, Small chin, Crowded teeth

6. High pitched voice

8. Delay or absent sexual maturation

9. Delayed skeletal age; Normal intelligence

1. Low levels of GH in response to stimulation

3. Levels of TSH, ACTH,

Small pituitary fossa containing a reduced

• Subcutaneous recombinant GH for 7 days-

• IGF 1 for resistant cases

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