short stature

1. Short Stature
Presented by-
Dr. Deepali Jain
GUIDED BY-
Dr. Deepak Dwivedi

2. References
1. Nelson Textbook of Pediatrics
2. Pediatric Endocrinology, Fifth edition Vol. 2
3. Practical strategies in Pediatric diagnosis and
therapy
4. O. P. Ghai, 8th edition
5. Pubmed

3. Introduction
Growth is the fundamental physiologic process that
characterizes childhood.
Secular trends in growth patterns are followed as
indicators of children’s health on a population level.
Growth can be worrisome along two variables:
height (short stature) and velocity (growth failure).

4. Definition of Short
Stature
• Height less than the 3rd percentile or 2SD below the
mean for age of the population reference standard.
• Excessively short i.e. more than 2 SD below the Mid-
Parental Height (MPH) or Target height (TH) even if the
height recorded is within the normal population
percentiles for age.
• Growth velocity less than 25th percentile on a velocity
curve over a period of 6-12 months.
• Dwarfism refers to more severe short stature, defined as
height below 3 SD for age & gender norms.

5. Growth Velocity
• Growth velocity =
𝐻𝑒𝑖𝑔ℎ𝑡 𝑐𝑚 𝑎𝑡 𝑡𝑖𝑚𝑒2―𝐻𝑒𝑖𝑔ℎ𝑡 𝑐𝑚 𝑎𝑡 𝑡𝑖𝑚𝑒1
𝑇𝑖𝑚𝑒2−𝑇𝑖𝑚𝑒1(𝑚𝑜𝑛𝑡ℎ𝑠)
× 12(months/year)
• Thus, abnormally slow growth velocity, or height dropping
across two major centile lines on the growth chart are the
two other definitions of worrisome growth.

6. Significance
• The Social Problem –
Short stature is a cause of psychosocial stress, and
the extent to which this is a problem depends on the
severity of the height deficit, the degree of tolerance in
the local population, and the child’s coping skills.
• The Medical Problem –
Multiple diseases can present solely with growth
failure, such as celiac disease, inflammatory bowel
disease, cystic fibrosis, renal tubular acidosis, and human
immunodeficiency virus (HIV) infection.

7. Although girls were
referred to an
academic growth
center less often and
with greater height
deficits than the boys,
a significantly
higher percentage of
the girls had
underlying
pathology that requires
intervention
The distribution of each major diagnostic
category for (A) boys and (B) girls referred to an
academic
Growth Center in 2001.

8. Normal patterns of
Growth
• Fetal Growth & Birth size –
Reflects mainly maternal factors –
maternal or uterine size,
parity and multiparity,
nutrition, and uteroplacental blood flow
small effect of congenital disorders on prenatal growth
• Postnatal Growth –
The rate of linear growth is greatest in infancy
genetic or familial influences begin to exert their effect
on height

9. Growth velocity
YEAR INCREMENT (in cms)
1 25
2 10
3,4 7
5,6 6
7 – Puberty 5
Mid - puberty 9 – 10.3
Growth accelerates
again at puberty.
The timing of the
pubertal
growth spurt differs
between girls and
boys.

10. Etiology of Short stature
Normal variants –
1. Constitutional growth delay
2. Genetic/ Familial Short stature
3. Combined
Pathological –
1. Nutritional
i. Macronutrient deficiency
ii. Micronutrient deficiency
Decreased intake – kwashiorkor;
anorexia nervosa
Decreased absorption – inflammatory
bowel ds.;celiac ds.;
cystic fibrosis; malabsorption

11. Etiology of Short stature
2. Endocrinal causes – Hypothyroidism; Isolated GH deficiency;
Hypopituitarism; Glucocorticoid excess;
Precocious puberty
3. Chromosomal defects – Turner; Down syndrome; Prader
willi syndrome
4. LBW short stature – Sporadic; Russell Silver syndrome;
Cornelia de lange syndrome; Bloom syndrome
5. Defects in Bone development – Achondroplasia;
Chondrodystrophies

12. Etiology of Short stature
6. Metabolic causes – Mucopolysaccharidosis; other storage
disorders
7. Chronic diseases – Chronic Liver ds.; Chronic renal ds.; Chronic
infections; CHD; Poorly controlled Diabetes Mellitus
8. Psychosocial deprivation
9. Chronic drug intake – Glucocorticoids; High dose estrogens &
androgens; Methylphenidate; Dextroamphetamines

13. Assessment of Short stature
1. Accurate height measurement
2. Assessment of height velocity
3. Comparison with population norms
4. Comparison with child’s own genetic potential
5. Assessment of body proportion
6. Sexual maturity rating
7. Bone age

14. Accurate height measurement
• <2 years: supine length; infantometer
• >2 years: standing height ; stadiometer
• Bulky diapers removed
• Child is placed supine on the infantometer
• Head held firmly against a fixed upright head board by one
person
• Legs straightened, feet at right angles to legs

15. Accurate height measurement
• Without footwear
• Heels, buttocks, scapulae and occiput
touching the wall
• Lower border of the eye socket in the same
horizontal plane as external auditory meatus
( FRANKFURT PLANE)
• Looking straight ahead
• Gentle but firm pressure upwards applied to
the mastoids from underneath
• A Harpenden stadiometer which determines
height accurately (within 0.1 cm) is the most
sophisticated instrument.

16. Assessment of Height
velocity
YEAR INCREMENT (in cms)
1 25
2 10
3,4 7
5,6 6
7 – Puberty 5
Mid - puberty 9 – 10.3
• Rate of increase in height over a period of time
expressed as cm/ yr.
• All pathological causes of short stature will cause a poor
growth velocity.

17. Comparison with population norms
• The height should be plotted on appropriate growth
charts.
• Any child who falls behind in growth across major
percentiles in the chart should be evaluated, even when
the height is not below the third percentile.
• Use any chart but adjust for mid-parental height.

18. Examples of Growth
charts –
1. IAP (IAP Growth
Monitoring guidelines
2007)
2. WHO (MGRS Study
2006)
3. CDC
4. British 2005
5. ICMR
6. 1989 Affluent Indian
(Agarwal et al)
7. 2009 Affluent Indian
(Khadilkar et al)

19. Comparison with child’s own
genetic potential
• Mid parental height (MPH) gives an estimate of the child’s
genetically determined potential.
MPH for boys =
𝑀𝑜𝑡ℎ𝑒𝑟′ 𝑠 +𝐹𝑎𝑡ℎ𝑒𝑟′ 𝑠 ℎ𝑒𝑖𝑔ℎ𝑡 (𝑐𝑚)
2
+ 6.5 cm
MPH for girls =
𝑀𝑜𝑡ℎ𝑒𝑟′ 𝑠+𝐹𝑎𝑡ℎ𝑒𝑟′ 𝑠 ℎ𝑒𝑖𝑔ℎ𝑡 (𝑐𝑚)
2
- 6.5 cm
• The target height obtained by this method is then applied to
the 20-year line of the gender-appropriate growth chart.

20. The projected height is
determined by
extrapolating the
child’s growth along his
or her own channel. If
the projected final
height is within 5cm of
the midparental target
height, the child’s
height is appropriate
for the family

21. Assessment of Body proportion
Proportionality is assessed by –
• Upper segment : Lower segment Ratio
• Comparison of arm span with height
Based on this, short stature can be
• Normally US : LS Ratio –
 Birth: 1.7
 3 years: 1.3
 6 years: 1.1
 10 years: 1
 Adults: 0.9
Proportionate
Disproportionate

22. • Increase in US : LS ratio –
- Rickets
- Achondroplasia
- Untreated Congenital Hypothyroidism
• Decrease in US : LS ratio –
- Spondylo-epiphyseal dysplasia
- Vertebral anomalies
• Conditions that adversely affect the vertebrae, such as scoliosis or
irradiation, may result in growth retardation and disproportionately long
arms.
• In case of disproportionate short stature,
further measurements of the various limb
segments should also be made.
Normally, SE/EMC = 1
Rhizomelia = 0.98

23. Sexual Maturity Rating (SMR)
• SMR stage should be assessed in older children.
Short stature:
 precocious puberty due to early epiphyseal fusion.
 Delayed puberty as growth spurt is delayed.

24. Skeletal Maturation
• The pattern of skeletal maturity is also helpful in differentiating the
type of short stature.
• BONE AGE - method of assessing skeletal maturity observed directly
by visualization of epiphyseal growth plates on X-ray.
• X-rays useful to determine skeletal age –
1. <1 year: shoulder x-ray
2. 1-13 years: hands and wrists
3. >13 years: elbow and hip

25. • Bone age is necessary:
- in the diagnosis of FSS and CGD;
- for interpreting hormone levels in pubertal age;
- for diagnosis of precocious puberty or hyperandrogenism;
- for deciding whether to treat or not the above mentioned conditions;
- for predicting adult height in normal children;
- in evaluating any child with growth and/or puberty disorders;
- in deciding the time to start replacement therapy in hypogonadism;
- in monitoring children on growth hormone therapy.

26. Methods for bone age evaluation
1. Greulich & Pyle method - In their method for each of these bones an
elaborate description of its developmental stages is included.
2. Tanner and Whitehouse method - It is based on a set of bone’s standard
maturity for each age population.
3. Roche–Wainer–Thissen – The five predictor variables in the RWT method
are recumbent length, weight, bone age, chronological age, and parental
heights.
Computer programs have been developed for the calculation of both
mid-parental target heights and predicted adult heights (by all three
methods).

27. Evaluating a child with short stature
History –
Maternal History
Birth History
Growth pattern
Developmental milestones
Family History
Dietary History
Medical History
Physical Examination –
• Measurements: weight,
standing height, sitting height,
head circumference.
• Height in relation to previous
heights (height velocity),
parents’ heights, stage of
puberty, weight.
• Genitalia and pubertal
development
• Body composition:
subcutaneous fat and muscle
bulk
• Unusual or dysmorphic features
• Signs of specific diseases

28. History and Presentation
• Hypoglycemia, prolonged - Congenital GH deficiency
jaundice, small penis
• Antenatal - IUGR
• Puffy extremities - Turner syndrome
• Fever, weight loss, - Chronic infections
anorexia
• Chronic diarrhoea/ - Malabsorption
bulky frothy stools
• Dyspnea, cough, cyanosis - Systemic diseases
• Headache, vomiting, - Pituitary or hypothalamic SOL
diplopia
• Polyuria - CRF, RTA
• Weight gain, obesity - Cushing syndrome
• Constipation, lethargy, - Hypothyroidism
delayed milestones

29. Clues on Examination
• Pallor - Anemia
• Hypertension - CRF, Cushing syndrome
• Dysmorphism - Genetic disorders
• Midline defect - Hypopituitarism
• Vitamin deficiency, - Malabsorption, PEM
Wt for Ht
• Frontal bossing, - Congenital GH deficiency
depressed nasal bridge
• Disproportionate body - Skeletal dysplasia, Rickets
proportion
• Central obesity, - Cushing syndrome
proximal weakness
• Papilloedema, visual defect, - Pituitary Tumor
optic atrophy
• Goiter, delayed dentition, - Hypothyroidism
Short lower limbs

30. APPROACH
Measurement
Normal
Abnormal
Clues H/O & EXAM
Present Absent
Assess growth rate & bone age
<4 cm/yr >4 cm/yr
Bone age Bone age
delayed normal normal delayed
do screenning inv. Genetic ds GSS CGD

31. Stepwise investigative work - up
• Level-1 investigations –
1. CBC
2. CRP & ESR
3. Urinalysis
4. Stool examination
5. S. Electrolytes
6. Liver and Renal
function tests
7. Bone age
• Level-2 investigations –
1. Thyroid function tests
2. Karyotyping
3. Prolactin
4. Neuroimaging
• Level-3 investigations –
1. Coeliac serology &
duodenal biopsy
2. GH stimulation test &
serum IGF-1 levels

32. Differential Diagnosis
• Variants of Normal
– Familial short stature
– Constitutional delay
• Pathologic/Growth Failure
– Endocrinal
– Genetic
– Systemic
– Psychosocial

33. Familial/Genetic short stature
• Birth weight and length below 3rd percentile for GA
• Although the growth channel is low,
it parallels the normal growth curve.
• Family history of short stature
• Normal onset of puberty
• Bone age appropriate for
chronological age
• The adult height is likely to be shorter
than average.

34. Constitutional growth delay
• The most common cause of
short stature and sexual
infantilism in the adolescent.
• Delayed onset of puberty
• A late adolescent growth
spurt (Late Bloomers)
• Final height is normal
• Bone age delayed
A positive family history of delayed but normal puberty and growth, a
normal sense of smell (to exclude Kallmann syndrome), and normal
neurologic findings favor constitutional delay.

35. Intrauterine Growth Retardation
• Small for gestational age at birth
• Slow growth from early infancy
• Normal bone age,sexual
development
• Normal GH levels
• Normal growth pattern in family
• Serum IGF-1 levels were lower,
and GH levels higher
• Higher basal and stimulated
suggested GH resistance
IUGR infant who maintains normal
growth rates but does not
exhibit catch-up growth.

36. Growth hormone deficiency
• Congenital -
-idiopathic
-associated with midline defects (absent septum pellucidum,
optic nerve hypoplasia [septooptic dysplasia], cleft palate,
holoprosencephaly, single central incisor)
-defects in the genes for GH
• Acquired –
-birth injury
-head injury
-cranial irradiation
-craniopharyngioma
• Growth hormone insensitivity (Laron syndrome)

37. • Clinical features –
- Normal birth size
- Mid-facial crowding
- Round cherubic facies
- Depressed nasal bridge
- Micropenis
- Frontal bossing
- Heightage < weight age
- Neonates – hypoglycemia/
prolonged jaundice
- Bone age is delayed
- Body proportions are normal

38. • Lab. Diagnosis –
- subnormal GH levels (<7 or 10 ng/mL)
in response to two pharmacologic
stimuli (clonidine, arginine,
insulin-induced hypoglycemia).
- Low IGF-1 and IGFBP3.
- Neuroimaging for acquired causes.
• Treatment –
- Replacement therapy with hGH.
- Recommended dose of hGH is
0.18-0.3 mg/kg/wk. It is administered
subcutaneously in seven divided doses
until near final height is achieved.

39. Hypothyroidism
• May be congenital or acquired
• Clinical features –
- Prolongation of physiologic icterus
- Birth size normal
- Feeding difficulty, sluggishness
- Large tongue, large abdomen
- Poor appetite
- Umbilical hernia
- Cold & mottled extremities
- Wide open ant. & post. Fontenelle
- Short stature, Bone age delayed
- Myxoedema
- Dry skin, delayed puberty
A.Congenital hypothyroidism in an infant
6 mo of age
B.Four mo after treatment, decreased puffiness
alert appearance

40. Lab. Diagnosis –
-Newborn screening for congenital Hypothyroidism is routine
- If abnormal repeat
- Elevated serum TSH and low T4.
- Positive TSH receptor-blocking antibodies- diagnosis for transient
congenital Hypothyroidism
- If normal TSH & low T4, look for Pituitary or hypothalamic cause
- Thyroid antibodies (antithyroglobulin, antimicrosomal antibodies) is
consistent with autoimmune thyroiditis.
Treatment –
-In neonates, the initial starting dose is 10-15 μg/kg.
- Children with hypothyroidism require about 4 μg/kg/24 hr.
- Monitoring of free T4 (or FTI) and TSH is essential for optimizing the
dose of medication.
- Educate parents and child about disease.

41. Achondroplasia
• Most common osteochondrodystrophy.
• caudal narrowing of spinal canal
• Autosomal dominant disease.
• But there are studies present which
shows the germline and somatic mosiacism
in achondroplasia
[J Med Genet 2000;37:956-958
doi:10.1136/jmg.37.12.956].
• Treatment –
- Counselling of parents
- Dietary advice
- Psychological counselling
- Annual monitoring of height and weight
- Drugs: GH

42. Turner syndrome
- classic form being 45,XO
- progressive deviation of height
away from the normal growth curve
- Streak gonads
- small birth size and dysmorphic
features
- Abnormally high levels of the
gonadotropins, LH, FSH
Treatment –
• GH therapy
• sex steroid replacement therapy

43. Psychosocial Dwarfism/ Hyperphagic
Dwarfism
• Profound short stature without
apparent malnutrition.
• Characterized by functional
hypopituitarism.
• Low IGF-1 levels & inadequate
response to GH stimulation.
• Less stressful environment
is beneficial.
Between ages 6 and
8 years, he had chemical
evidence of growth hormone (GH)
deficiency. B, After placement in a
chronic care facility (arrow), his
growth rate improved markedly, and
his GH levels reverted to normal.

44. Take Home Message
• Take height by proper method and plot it on appropriate growth
chart.
• Use Growth Charts appropriately.
• Every child must have proper growth monitoring so as to know
whether the child is on his proper road to growth.
• Any child with short stature is not always familial and should
evaluated completely.