1. APPROACH TO A CHILD WITH
SHORT STATURE
DR.V.V.RATNAKAR
REDDY
dr m mallikarjuna

2. Why we need to concern?
• BECAUSE…………………..
IT CAN BE A SIGN OF DISEASE,
DISABILITY,
&
A SOCIAL STIGMA CAUSING
PSYCHOLOGICAL STRESS

3. Definition
A child whose height is below 2 standard
deviations for age and gender
Males
200 78
190 +2
+1
74 Generally
180 0 70 accepted
170 -1
160
-2
66
-2.0 SD (2.3 percentile) definition of
62
normal range
Height (cm)
150
Height (in)
58
140
54
130
50
120
46
110
42
100
38
90
34
80
30
70
2 4 6 8 10 12 14 16 18 20
Age (y )

4. 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
• 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.
• Pediatrics,
EssentialIIIIIIIII 7 Edition, OP Ghai; Fima Lifschitz- Pediatric Endocrinology
th

5. Growth Physiology
Environment
Genetic factors Growth Hormones
•Growth hormone
•Thyroid hormone
Dietary factors
•Gonadotrophins

6. Factors affecting height
Intra FSH
uterine Nutrition LH
Growth Hormone
Growth Thyroid harmone GH
factors Thyroid
Birth 1 year 2 years 4years 8years Puberty Adult

7. Growth factors at various stages
• PRENATAL GROWTH:
Uterine function & size, maternal nutrition,
insulin,IGF/BP
• POSTNATAL GROWTH:
GH& THYROXINE
Rapid linear growth velocity initially that
declines progressively after birth to 3 yrs.
25cms  12.5cms->8cm/yr.

8. • 3YEARS TO PUBETY:
GH& THYROID HORMONE
Constant linear growth @4-7cm/yr.
• PUBERTY:
Sex steroids(estrogen&testosterone) in concert
with GH,THYROID,&NUTRTION Acceleration
of growth pubertal growth spurt.
- Spontaneous growth hormone elevation in
response to sex steroids.

9. • First sign of puberty in females preceeds the
first sign of puberty in males by 6months.
• Pubertal growth spurt in females is 2 years
earlier than males but the peak height velocity
is slower in females than males(8.3cm/yr
<9.5cm/yr) resulting in on an average of 13cm
difference in between them.

10. SKELETAL MATURATION
• Growth usually results from increased length
of bones coupled with rate of skeletal
maturation.
• BONE AGE RADIOGRAPHY:
Assessing skeletal maturation by examining the
epiphyseal maturation at hand&wrist.
In <18 months- hemiskeleton x ray due to
immature hand &wrist growth plates.
• Delayed bone age –indicates short stature is
partially reversible coz linear growth continues
until epiphyseal fusion completes.

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

12. NORMAL GROWTH
• The most critical factor in evaluating the growth
is determining GROWTH VELOCITY.
• Observation of childs height pattern in the form
of “CROSSING PERCENTILE LINES” on a linear
growth curve is the simplest method of observing
abnormal growth velocity.
• Atleast 3 measurements with preferably 6
months intervel in between is necessary to
comment on growth pattern.
• A short child with non delayed bone age is of
much more concern.

13. SHORT STATURE
Dysmorphic Normal
Dis-
Proportionate
Proportionate
•Russle Silver •Constitutional •Osteogenesis
•Noonan’s •Familial/genetic imperfecta
•Turner syndrome •IUGR •Achodroplasia
•Downs syndrome •Ch Malnutrition •Rickets
•Prader Willi •Celiac Disease •Metabolic and
•Pseudo- •Chronic systemic storage disorders
hypoparathyroidism disease (CRF, CLD) (short spine)
•GH Deficiency
•Hypogonadism
•Hypothyroidism

14. Short Child That Looks Normal
Calculate TH
Not Within Target Range Within Target Range
Watch GV Observe – GV Normal
Normal growth velocity Low growth velocity
Low birth weight Chronic systemic disease
Growth delay Endocrine disorder
Idiopathic SS Genetic, chromosomal
Psychosocial

15. Causes Of Short Stature:
A) 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)

16. iii) Psychosocial Short Stature
(emotional deprivation)
iv) Endocrine Causes: (With increased W/H)
- Growth Hormone Deficiency/ insensitivity
- Hypothyroidism
- Juvenile Diabetes Mellitus
- Cushing Syndrome
- Pseudohypoparathyroidism

17. 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

20. Comparison
Feature Familial Short Stature Constitutional Short Stature
1) Sex Both equally affected More common in boys
2) Length at Birth Normal( crosses percentile Normal (starts falling <5th
downwards by 3yrs) centile in 1st 3yrs of life)
3) Family History Of short stature Of delayed puberty
4) Parents Stature Short (one or both) Average
5) Height Velocity < NORMAL but gains >4cm/yr Normal
6) Puberty Normal Delayed
7) Bone Age & Chronological BA = CA > Height Age CA > BA = Height Age
Age
8) Final Height Short, but normal for target Normal due to normal growth
height in pre pubertal years.

23. Genetic Syndromes:
A) Chromosomal Disorders
- Turner syndrome ( XO) :
an incidence of 1 in 2000
live births
- should be ruled out even
if typical phenotypic
features are absent
- Other Eg:
Noonan,-looks like turners but both sexes are afectd.
Silver- Russel – with iugr child
Seckle syndrome- bird headed dwarfism.
B) Inborn Errors of Metabolism
-eg. Galactosemia, Aminoaciduria

24. Intra-uterine Growth Restriction
• Arrest of fetal growth in early embryonic life causes
reduction in total number of cells, leading to
diminished growth potential in postnatal life
• BW -<10th centile for GA.
• Most of these babies show catch-up growth by 2yrs
of age, but 20-30% may remain short.
• AETIOLOGY: Subtle defects in the GH-IGF axis
• Growth Velocity- normal
• BA = CA
• Learning disabilities could be present

25. Under nutrition:
• One of the commonest cause of short stature in India.
• Aetiology: PEM, Anemia & trace element deficiency
such as Zinc , calcium def are common causes.
• Child usually appear STUNTED, with POOR Wt. gain,
Wasted muscles.
• BA < CA.:
• Usually child achieves catch up growth with restoration
of nutrition & may be dwarf if undernutrition is
profound.
• Diagnosis: good dietary history, anthropometric
measurements

26. Chronic Systemic Illness:
1) Chronic Infections
-eg:TB, Malaria, Leishmaniasis, Chr. pyelonephiritis
- Growth retardation is due to impaired appetite,
decreased food intake, increased catabolism,
poor utilization of food, vomiting & diarrhoea
2) Malabsorbtion Syndromes
- eg: chronic recurrent infective diarrhoea, lactose
intolerance, cystic fibrosis, celiac disease,
giardiasis, cow’s milk allergy, abeta lipoproteinemia
IBD&COELIAC DISEASE- manifest with growth delay even
before onset of GI symptoms.

27. 3) Birth defects:
CHD, urinary tract & nervous system anomalies
4) Miscellaneous:(EVIDENCED CLINICALLY)
Cirrhosis of liver, bronchiectasis, acquired
heart diseases, cardiomyopathies, SDH
RTA& Nephrogenic DI- may present from birth with
FTT.

28. 2) Laron’s Syndrome
- Metabolic disorder, AR inheritence
- Clinically resembles hGH deficiency, but blood
hGH levels are high
- Somatomedin levels are low
3) Type 1 Diabetes Mellitus
- significant growth retardation
- insulin has chondrotropic effect

29. 4) Hypothyroidism
- Short, stocky child;
dull looking, puffy face
- Thickened skin & sct giving
myxomatous appearance,
cold intolerance
- Protuberant abdomen with
umbilical hernia
- Infantile sexual development
& delayed puberty
- Bone age markedly delayed
Diagnosis- Low T4 levels, high TSH levels

30. 5) Cushing syndrome:
Growth retardation ( early feature)
• Other features:
Obesity, plethoric moon facies,
abdominal striae , hypertension,
decreased glucose tolerance
6) Gonadal disorders:
- Adiposo genital dystrophy ( Frohlich syndrome)
moderate growth retardation, bone age normal
or slightly delayed
- Precocious puberty: early fusion of epiphyseal
centres

31. Psychosocial short stature:
• emotional deprivation dwarfism, maternal
deprivation dwarfism, hyperphagic short stature
• Functional hypopituitarism - low IGF-1 levels &
inadequate response to GH stimulation
• Type1- below 2 yrs, failure to thrive, no GH deficiency.
• Type2- in > 3 yrs ,due to emotional deprivation.
• Slow GV, delayd BA, resume normal growth if stimulus
is removed
• Other behavioural disorders: enuresis, encorpresis,
sleep & appetite disturbances, crying spasms, tantrums
• Dental eruptions & sexual development delayed

32. Skeletal dysplasias:
• chondrodysplasias
• Inborn error in formation of
components of skeletal system
causing disturbance of cartilage
& bone
• Abnormal skeletal proportions
& severe short stature
• Diagnosis-
family history, measurement of
body proportions, examination of limbs & skulls,
skeletal survey

33. Diagnosis
• Detailed history
• Careful examination
• Laboratory evaluation

34. The child is short and short for the
family – what next?
• Is the child very much below the 3rd percentile
or just below?
• If just below and within Target range then
watch growth velocity for 6 months to one
year
• If very much below the 3rd percentile and
target range - investigate

35. Now Look At the Proportions
• Is the Child Disproportionate ?
• Take sitting height and standing height
• Calculate Subischeal leg length
• Use proportion charts or tables
• Short legs – Skeletal Dysplasia
• Short spine – Metabolic and storage disorders
and rare skeletal dysplasia

37. 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
Diarrhea, greasy stools Malabsorption

38. Pointers to etiology of short stature
Pointer Etiology
Midline defects, micropenis, Frontal bossing, GH deficiency
depressed nasal bridge, crowded teeth,
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

39. Physical examination
• Weight measurement
-W/A >H/A i.e. fat & short- Endocrine.
-H/A> W/A but both are below the chronological
age with thin & short- Under nutrition / chronic
illness.
• Systemic examination to rule out systemic illness
• skeletal system examination including spine
• Dysmorphic features
• Tanner staging

40. Clues to etiology from examination
Examination finding Etiology
Disproportion Skeletal dysplasia, rickets, hypothyroidism
Dysmorphism Congenital syndromes
Infantile appearance, micropenis Ghd, Mphd
Hypertension CRF
Short metacarpals Parathyroid dis, Turners, SXOX gene defect
Goitre, coarse skin Hypothyroidism
Central obesity, striae Cushing syndrome

41. Assessment of a child with short
stature
1) Accurate height measurement
• Below 2 yrs- supine length with
infantometer.
• For older children- harpenden
Stadiometer

42. Height meaurement
• Infanto meter:
Child should be relaxed
Head should be placed against an inflexible
board.
Legs fully extended
Feet placed perpendicular onto movable flat
board.

43. Height measurements
• 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

44. • SITTING HEIGHT:
• It is the CRL in <2yrs of age
• Measured upto ischial tuberosity.
• Using sitting height stadiometer.
• At birth:70%
• At 3yrs: 57%
• Adults:50%
• SUB ISCHIAL LEG LENGTH:
• Height-sitting height.
• USEFUL IN MEASURING THE upper to lower body
praportions.

45. 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

46. 3) 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
• 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

47. Always Perform Sexual Maturity Rating

48. GENITALS IN MALE
STAGE TESTI VOL PENILE SCROTUM AGE
LENGTH
1 <1.5ML ≤ 3CM - ≤ 9 YRS
2 1.6-6 ML ≤ 3CM THIN RED 9-12 YRS
ENLARGED
3 6-12 ML 6 CM ENLARGES 11-12.5 YRS
FURTHER
4 12-20 ML 10CM ENLARGE DARK 12.5-14 YRS
5 >20 ML 15 CM ADULT 14+

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

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

51. 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

52. 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 .

53. • 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

54. 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

55. 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

56. Methods of bone age
assessment
• Tanner White House
•
• Greulich and Pyle
• No of carpals – 2

57. G & P Method
Patient’s film is
compared with the
standard of the
same sex and
nearest age
It is next
compared with
adjacent standard,
both older and
younger to get the
closest match

58. Bone age
Better correlate with SMR
Predictor of future height

59. TW Method - 13 Bones

60. • Bone age gives an idea as to what proportion of
adult height has been achieved by the child & what
is remaining potential for height gain
• BA is delayed compared to chronological age in
almost all causes of short stature
• Exceptions: Familial short stature,
Precocious puberty

61. Delayed bone age
• Constitutional short stature
• Hypothyroidism
• Celiac disease
• GH deficiency

62. Familial Vs Constitutional
• hallmarks of familial (genetic) short stature is normal
bone age, normal growth velocity, and predicted adult
height appropriate to the familial pattern
• By contrast, constitutional growth delay is
characterized by delayed bone age and predicted adult
height appropriate to the familial pattern
• Patients with constitutional growth delay typically have
a first or second-degree relative with constitutional
growth delay (menarche older than 15 y, adult height
attained in male relatives when older than 18 y)

64. Investigations Level 2
• IGF-I
• IGF Binding protein 3
• Growth hormone and other dynamic
stimulation tests
• Neuroimaging
• These tests are best left for the specialised
units

65. 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

66. Growth hormone actions
Growth Hormone GH receptors Liver
Metabolic effects
Metabolic effects
(Anabolic)
Synthesis of IGF1
GH receptors
IGF receptors
Proliferation of Cells
Linear Growth
Linear growth
Cellular growth

67. GROWTH HORMONE
DEFICIENCY(GHD)
• CONGENITAL: • ACQUIRED
-Perinatal asphyxia, -idiopathic
-CNS malformations -tumors
(septo optic dysplasia) ( craniopharyngioma,
glioma, germinoma)
-trauma/surgery
-cns infection/irradiation

68. Growth hormone deficiency
- Normal length & weight at birth
- Growth delay seen >1yr of age,
growth velocity < 4cm/year
- BA < CA by at least 2 yrs
- Infantile gonadal development,
- short stature &short growth vel.
- Normal intelligence &delayd BA.
- Diagnosis: hGH levels in sleep & after provocation
with clonidine, insulin, propranolol
- hGH>10ng/ml excludes hGH deficiency

69. Workup for GH def
• endogenous GH is secreted in a pulsatile
fashion. These intermittent peaks are greatest
after exercise, meals, and during deep sleep.
Therefore, measuring a single random serum
GH value is of no use in the evaluation of the
short child.
• random serum GH value of more than 10
mg/dL generally excludes GHD, a random low
serum GH concentration does not confirm the
diagnosis

70. GH stimulation test
• Insulin-induced hypoglycemia is the most
powerful stimulus for GH secretion; however,
this test also carries the greatest potential for
harm.
• Alternate GH stimulants: Arginine, levodopa,
Propranolol with glucagon, Exercise, Clonidine,
Epinephrine.
• INTERPRETATION:
Peak stimulated growth hormone conc.
<10ng/ml in response to 2 GH stim .test or
<18ng/ml in response to combined Arg- GHRH
stim test.

72. IGF-1 and IFGBP-3 measurement
• IGFBP-3 and IGF-1 serum levels represent a
stable and integrated measurement of GH
production and tissue effects
• IGF-1 have superior diagnostic sensitivity and
specificity compared with IGFBP 3.
• The combination of IGF-1 and IGFBP-3
measurements is superior when compared to
individual tests

73. Interpretation of results
• If IGF-1 and IGBP-3 level are normal then it
shows that GH level is also normal (no need for
GH testing)
• If IGF-1 and IGBP-3 level are low then it may be
due to GH def or GH resistance-----go for GH
basal level and after stimulation
• If GH also low then GH def, if normal or high
then GH resistance ( Primary IGF-1 def)

74. growth hormone therapy
• Currently approved as per FDA IN:
• GHD
• TURNERS SYNDROME
• RENAL INSUFFIENCY
• PRADER WILLE SYNDROME
• NORMAL CHILDREN WITH HEIGHT <2.4 SD
• SGA who have not reached 5th centile by 2yrs.
• Shox (short stature homeobox gene)deficiency.

75. GH THERAPY
DOSE: 0.1U/KG/DAY s.c. at night time
Follow up & watch for atleat one year before
starting the treatment.
Earlier is always better&ideal is 3-4yrs
Never delay beyond 7-8yrs
Usually growth velocity is maximum in first year
of therapy.
 Devices:
 Freeze dried – commonest
 Liquid prep- easy to administer

76. Automated pen type

77. G H THERAPY
 Routes of administration:
• S.c- currently using
• Intranasal- under trials
• Timing: 2-3 times/wk
 Response to Rx:
• Max response in 1st year with growth velocity >95th
percentile
• With each increasing year the growth rate tends to
decline.
• If falls <25th percentile: assess compliance before
increasing dose.

78. • Concurrent treatment with GH & LHRH with a
hope to interrupt puberty
• CRITERIA FOR STOPPING r Rx:
 Decision by patient that he/she is tall enough
 Growth rate <1 inch/year
BA >14YRS in girls & 16yrs in boys.
• FOLLOWUP:
 required as there is risk of :primary hypo
thyroidism/adrenal insuffiency so periodic follow
up needed.
• SIDE EFFECTS:
Pseudotumour cerebri, hyperglycemia, acute
pancreatitis, liver abnormalities, gynaecomastia,

79. HYPOTHYROIDISM
• CONGENITAL • ACQUIRED(UNTREATED)
(UNTREATED):
 Slow growth vel.  Asymptomatic
 Delayd BA  Delayed growth
 Constipation  Constipation
 Mentally delayd unless  Normal IQif developed
treated at 2-3 mnths. >2yrs of age
 Dry skin

80. • Regardless of symptoms all children with
significant short stature should be screened
for hypothyroidism.
• Rx: thyroxine usually started at 100 micro
grams to be started.

82. Turners syndrome
• Short stautre may be the only clinical
manifestation.
• Karyotyping should be considred in a short
female child with pubertal delay.
• SHOX gene which is required for the normal
growth is present only in a half a dose in these
children
• C/F:
 Delayed BA
 Normal appearance r with

83.  Webbed neck
 Short metacarpals
 Shield shaped chest
 Hyperconvex finger n toe nails
 Cubitus valgus with wide carrying angle of arms
 Gonadal dysgenesis with incomplete or absent
puberty
 No pubertal growth spurt.

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

86. Thank You !!

88. Genghis Khan
Voltaire
Pablo Picasso