1) Short stature can be caused by disease, disability, or social stigma and requires evaluation.
2) A child is considered short if their height is below the 3rd percentile or more than 2 standard deviations below the median height for their age and sex.
3) Approximately half of children with short stature have a physiological/familial cause, while the other half have a pathological cause like malnutrition, chronic illness, hormonal deficiencies, or genetic syndromes.
4) Evaluation of a child with short stature involves taking a thorough history, performing anthropometric measurements and growth chart analysis, conducting a physical exam, and ordering initial lab tests and bone age assessment.
1. Approach To A Child
With Short Stature
Moderated by Dr. Mohd. Haseeb Sir
Presented by Dr. Akshay Golwalkar
2. Why we need to concern?
BECAUSE…………………..
IT CAN BE A SIGN OF DISEASE,
DISABILITY
&
A SOCIAL STIGMA CAUSING
PSYCHOLOGICAL STRESS
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 or
Excessively short for mid mid parental or target
height
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)
*Essential Pediatrics, 7th Edition OP Ghai; IAP spatiality series Endocrinology 2nd edition
4. Approximately 3% children in any population will be short*
Approximately half will be physiological ( familial or
constitutional ) & half will be pathological short stature*
Most common cause is malnutrition in developing
countries*
Familial or constitutional is the leading cause in
developed countries*
*IAP spatiality series Endocrinology 2nd edition
7. Endocrinology of Postnatal Growth
Deficiency of thyroxin
blunts GH secretion.
GROWTH
Linear
Growth
Ponderal
Growth
Skeletal maturation
& Bone Growth
Linear Growth
Increased Growth
Velocity @ puberty
8. Etiology of short stature*
Physiological
– Familial
– Constitutional short stature
Pathological
– undernutrition
– Chronic systemic illness
– Hormonal deficiency states
– Psychosocial dwarfism
– SGA
– Skeletal dysplasias
– Genetic syndromes
*Essential Pediatrics, 7th Edition OP Ghai; IAP spatiality series Endocrinology 2nd edition
9. Familial Vs Constitutional*
Feature Familial Short Stature Constitutional Short Stature
1) Sex Both equally affected More common in boys
2) Family History Of short stature Of delayed puberty
3) Height Velocity Normal Normal
4) Puberty Normal Delayed
5) Bone Age Normal Less than
chronological age
6) Final Height Short, but normal for
target
height
Normal
*IAP spatiality series Endocrinology 2nd edition
10.
11. Approach to a child with short stature
History & “observation”
Anthropometric measurements
Plotting on growth chart
Physical examination
workup
13. 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
Clues to etiology from history
15. 1) Accurate height measurement
Below 2 yrs*- supine length with
infantometer.
Assessment of a child with short stature
*IAP spatiality series Endocrinology 2nd edition
16. Assessment of a child with short stature
For older children-
Harpenden Stadiometer
19. Increments in Height*
Age Increase in height
Birth 50cm
1st yr age 25cm
2nd yr age 10cm
3rd yr age 7.5cm
4th yr age 5cm
5th yr age 5cm/year
*IAP spatiality series Endocrinology 2nd edition
20. Growth Velocity*
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.*
*IAP spatiality series Endocrinology 2nd edition
21. At least 3 measurements with preferably 6 months
interval in between is necessary to comment on
growth pattern.*
*IAP spatiality series Endocrinology 2nd edition
Growth Velocity*
22. Growth Monitoring*
Age Ht/Length Wt Head
circumference
Others
Birth Yes Yes Yes --
1.5, 3.5
6, 9, 15 mths
Yes Yes Yes --
1.5 to 3 yrs 6 monthly 6 monthly 6 monthly Mid arm
3.5 to 5.5 yrs 6 monthly 6 monthly --
6 to 8 yrs 6 monthly 6 monthly -- BMI & SMR
9 to 18 yrs Yearly Yearly -- BMI & SMR
yearly
*IAP spatiality series Endocrinology 2nd edition
23. Target height*
Target height in cm for a girl = [(mother's height
in cm + father's height in cm) /2] - 6.5 cm
Target height in cm for a boy = [(mother's height
in cm + father's height in cm) /2] + 6.5 cm
*IAP spatiality series Endocrinology 2nd edition
24. Short Child That Looks Normal*
Normal growth velocity Low growth velocity
Low birth weight
Growth delay
Idiopathic SS
Chronic systemic disease
Endocrine disorder
Genetic, chromosomal
Psychosocial
Calculate the
target height
Within Target RangeNot Within Target Range
Watch GV Observe – GV Normal
25. Assessment of body proportion
Lower segment (LS) pubic symphysis to ground
Upper segment (US) total height/length – LS
US to LS ratio is 1.7 at birth decreases by 0.1
every year to reach 1 at 7 to 10 years of age.*
*IAP spatiality series Endocrinology 2nd edition
26. Arm span
Upper segment: Lower segment ratio
Increase :
– Achondroplasia
– Skeletal dyspalsias
– untreated hypothyroidism
Decreases :
– Short trunk (scoliosis)
– Short neck (klippel-Feil syndrome)
– Arachnodactyly (Marfan’s, homocystinuria)
Assessment of body proportion
27.
28.
29.
30. Physical examination
Weight measurement (fat & short….endocrine,
thin & short……under nutrition or chronic illness)
Systemic examination to rule out systemic illness
skeletal system examination including spine
Dysmorphic features
Tanner staging
32. Workup for short stature
Level 1* ( essential investigations):
Complete hemogram with ESR
Urinalysis
Stool
Blood
BONE AGE
*IAP spatiality series Endocrinology 2nd edition
33. 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
Bone Age (BA)
34. 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
35. Methods of bone age assessment
Tanner White House
Greulich and Pyle
37. 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
38. 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
*IAP spatiality series Endocrinology 2nd edition
40. 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
Workup for short stature
if Level 1 investigations are normal and bone age is delayed proceeds to
level 2*
*IAP spatiality series Endocrinology 2nd edition
41. HYPOTHYROIDISM
Short, stocky child, dull looking, puffy face.
Thickened skin 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*
*IAP spatiality series Endocrinology 2nd edition
42. HYPOTHYROIDISM
CONGENITAL
(UNTREATED):
Slow growth vel.
Delayed BA
Constipation
Mental retardation
unless treated at 2-3
months.
ACQUIRED(UNTREATED)
Asymptomatic
Delayed growth
Constipation
Normal IQ if developed
after 2yrs of age
Dry skin
43. Ideally every neonate should be screened for
TSH levels before discharging from nursery.*
Regardless of symptoms all children with
significant short stature should be screened for
hypothyroidism.*
Rx: thyroxine according to the age appopriate
dosage
HYPOTHYROIDISM
*IAP spatiality series Endocrinology 2nd edition
44.
45. Turners syndrome
Short stature may be the only clinical
manifestation.
Karyotyping should be considered 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
46. 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.
47.
48.
49.
50. Level 3*:
GH stimulation test with Clonidine or insulin & serum
insulin like GF-1 levels
Neuroimaging
Celiac serology ( anti- endomysial or anti- tissue
transglutaminase antibodies)
Duodenal biopsy
If height < -3 SD → proceeds to level 3 investigations*
*IAP spatiality series Endocrinology 2nd edition
51. GROWTH HORMONE DEFICIENCY(GHD)
Normal length & weight at birth.
Growth delay seen >1yr of age
BA < CA by at least 2 yrs
Normal intelligence & delayed BA.
Infantile gonadal development
52. Growth hormone actions
Growth Hormone
GH receptors
Liver
Synthesis of IGF1
Metabolic effects
IGF receptors
Growth Hormone
GH receptors
GH receptors Liver
Synthesis of IGF1
Proliferation of Cells
Cellular growth
Linear growth
Metabolic effects
(Anabolic)
IGF receptors
55. Workup for GH def
GH deficiency is diagnosed by a low level of serum
insulinlike growth factor-1 (IGF-1) in the presence of
deficiency of 3 or more pituitary hormones*.
Patients who have deficiency of 2 or less pituitary
hormones or pituitary-hypothalamic disease with low
IGF-1 levels require stimulation tests to establish the
diagnosis of GH deficiency*.
*Hartman ML, Crowe BJ, Biller BM, Ho KK, Clemmons DR, Chipman JJ. Which patients do not require a
GH stimulation test for the diagnosis of adult GH deficiency?. J Clin Endocrinol Metab. Feb 2002;87(2):477-
85.
56. Workup for GH def
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.
*Molitch ME, Clemmons DR, Malozowski S, Merriam GR, Vance ML,. Evaluation and treatment of adult growth hormone
deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. Jun 2011;96(6):1587-609
57. GH stimulation test
INTERPRETATION:
Peak stimulated growth hormone conc. <5.1ng/ml*
in response to GH stimulation test or
<11.1 ng/ml in response to combined Arg- GHRH
stimulation test with patients having BMI less
than 25*.
*Molitch ME, Clemmons DR, Malozowski S, Merriam GR, Vance ML,. Evaluation and treatment of adult growth hormone
deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. Jun 2011;96(6):1587-609
58. 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
Workup for GH def
*IAP spatiality series Endocrinology 2nd edition
59. 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)
*IAP spatiality series Endocrinology 2nd edition
60. 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.
*IAP spatiality series Endocrinology 2nd edition
61. GH THERAPY*
DOSE: 0.1U/KG/DAY s.c. at night time
Follow up & watch for at least 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.
*IAP spatiality series Endocrinology 2nd edition
64. 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.
65. CRITERIA FOR STOPPING Rx:*
Decision by patient that he/she is tall enough
Growth rate <1 inch/year
BA >14YRS in girls & 16yrs in boys.
*IAP spatiality series Endocrinology 2nd edition
66. FOLLOWUP:*
required as there is risk of :primary hypothyroidism /
adrenal insuffiency so periodic follow up needed.
SIDE EFFECTS:*
Pseudotumour cerebri, hyperglycemia, acute
pancreatitis, liver abnormalities, gynaecomastia,
*IAP spatiality series Endocrinology 2nd edition
67.
68. Take Home Message
Take height properly along with the height of parents
Plot on Growth Charts and find out the target centile
Determine the growth velocity by follow up at least after 6
months
A systematic approach and simple tests like bone age
usually reduce the need & hence cost of further
investigations
For dynamic stimulation tests refer the child to specialist
centres
70. Level 1 ( essential investigations):
1.Complete hemogram with ESR
2.BONE AGE
3.Urinalysis ( Microscopy, pH, Osmolality)
4.Stool ( parasites, steatorrhea, occult blood)
5.Blood ( RFT, Calcium, Phosphate, alkaline phosphatase, venous gas, fasting sugar,
albumin, transaminases)
Level 2 (investigations for short stature)
1.Serum thyroxin, TSH
2.Karyotype to rule out Turner syndrome in girls
Above is normal and bone age is delayed proceeds to level 2
71. • If above investigations are normal and height between -2 to -3→
observe height velocity for 6-12 months
• If height < -3 SD → proceeds to level 3 investigations
Notes de l'éditeur
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 or
Excessively short for mid mid parental or target height
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.
Genetic potential
Inadequate food choices and intake: Toddlers are notoriously picky leading to macro & micro nutrient deficiency
Psychosocial dwarfism emotional deprivation children from unhappy homes emotional needs of child totally neglected characterized by functional hypopitutirism with low IGF1, Other behavioural disorders: enuresis, encorpresis, sleep & appetite disturbances, crying spasms, tantrums
Dental eruptions & sexual development delayed
Neglect: inadequate intake equals inadequate resources for growth
Growing evidence that growth hormone, like the rest of the HPA, is affected by stress levels
Psychological dwarfism: obscene extreme of neglect, marked by short stature, bizarre behavior and limited speech
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.
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.
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.
Familial short stature – by defn child is short but is normal acc to his own genetic potential as determined by parents height.
Growth velocity is normal. Bone age equals chronological age.
Constitutional delay – born with normal length & weight grow normally upto 6 to 12 mths of age then develeration so ht & wt fall 3rd percentile puberty & adoloscent growth spout late..bone age lower than chrono age but correlate to height age. h/o of delayed puberty in parents
Renal Rta, crf, steroid dep neph synd
Cardio pulm CHD, cystic fibrosis, asthama
GI hepatic malabsorption CLD
Infections
Gh, thyroid, cushing, pseudohypoparathyroidism, precocious or delayed puberty
Psychosocial dwarfism emotional deprivation children from unhappy homes emotional needs of child totally neglected characterized by functional hypopitutirism with low IGF1, Other behavioural disorders: enuresis, encorpresis, sleep & appetite disturbances, crying spasms, tantrums
Dental eruptions & sexual development delayed
Skeletal dysplasias achandroplasia
Genetic turner downs
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)
Infanto meter:
Child should be relaxed
Head should be placed against an inflexible board.
Legs fully extended
Feet placed perpendicular onto movable flat board.
Frankfurt plane [line joining inferior orbital margin to ext auditory meatus] paralel to ground
Measured in cm/yr.
Arm span shorter than length at 2..5 cm at birth equals at 11 yrs of age then greater than height
klippel-Feil syndrome
Marfan’s
Arm span shorter than length at 2..5 cm at birth equals at 11 yrs of age then greater than height
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
CBC with ESR for anaemia & its probable cause, esr for chronic infections
Urinalysis ( Microscopy, pH, Osmolality)
Stool ( parasites, steatorrhea, occult blood)
Blood ( RFT, Calcium, Phosphate, alkaline phosphatase, venous gas, fasting sugar, albumin, transaminases)
Tanner White House
Ulanr & radial epiphysis
Carpel bones
Capitate & Hamate 1st year & cartilage discs appear fuse at puberty
Triquetral 2nd yr
Lunate 3rd yr
Scaphoid trapizium & trapezoid 6th yr
Pisifform 12th yr
Familial short stature BA equals CA , precocious puberty BA exceds CA
Shox (short stature homeobox gene)deficiency.
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.
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.
Turner – pterygium coli
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
In the ITT, insulin is administered intravenously at a dose of 0.1 U/kg (time 0) to produce a lowering of the plasma glucose level to less than 40 mg/dL (2.2 mmol/L). Glucose levels can be monitored by capillary samples every 15 minutes and once symptoms of hypoglycemia develop. A repeated dose of insulin can be administered if hypoglycemia does not develop by 30-60 minutes. Serum glucose and serum GH levels are measured at times 0, 15, 30, 60, 90, and 120 minutes after administering insulin.
The GHRH-arginine can be used as an alternative to the ITT.[22] GHRH is administered intravenously at a dose of 1 µg/kg body weight (time 0) followed by an intravenous infusion of 0.5 g/kg body weight (not to exceed 30 g) of arginine over 30 minutes. Serum GH is measured at -30, 0, 30, 60, 90, and 120 minutes. Because body mass index (BMI) can influence the GH response, the following criteria are used to establish the diagnosis of GH deficiency when using the GHRH-arginine test[