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Evaluation Of Short Stature in
          Children
                  Dr Tariq Azam khattak
                    MBBS (AM College
                 MCPS ,FCPS(Pediatrics
Growth Physiology

                     Environment




Genetic factors         Growth          Hormones



                                       •Growth hormone
                                       •Thyroid hormone
                     Dietary factors
                                       •Gonadotrophins
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
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
Growth Charts
Easy Instrument
Monitoring
– Growth Velocity
– Growth Pattern
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 )
Etiology of short stature

Physiological
– Familial or genetic
– Constitutional short stature
Pathological
– Malnutrition
– Chronic systemic illness
– Hormonal deficiency states
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
Most parents contribute short stature to
hormonal def. large randomized trials have
shown only 5% cases are attributed to hormones
Most common cause is malnutrition in
developing countries
 Familial or constitutional is the leading cause in
developed countries
Approach to a child with short stature

History
Physical examination
Height of the child
Height of parents
Plotting on growth chart
workup
History

Birth history
Nutritional history
Chronic disease history (asthma, CHD,
CLD,CRF, chronic diarrhea)
Drugs….chronic steroid therapy
Family history
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
Height measurements
         Without footwear
         Heels & back touching
         the wall
         Looking straight ahead
         Gentle but firm
         pressure upwards
         applied to the mastoids
         from underneath
         US/ LS ratio
         Total Arm span
Target height

Target height in cm for a girl = [mother's height in
cm + (father's height in cm - 13)] /2

Target height in cm for a boy = [(mother's height
in cm + 13) + father's height in cm)] /2
Growth Target centiles
       chart
Workup for short stature

Rule out chronic disease (Hemoglobin, hepatic
and renal profile)
Rule out malabsorption (esp. if history is
suggestive)
Karyotyping for all females with short stature to
rule out turner syndrome
X-ray for bone age (usually left wrist)
Bone age
Better correlate with SMR
Predictor of future height
Delayed bone age

Constitutional short stature
Hypothyroidism
Celiac disease
GH deficiency
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)
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
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
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 used successfully are
arginine, levodopa, propranolol with glucagon,
exercise, clonidine, or epinephrine.
GH provocative testing should be done under
the supervision of a pediatric endocrinologist
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 appears superior to determining
either analyte alone in the diagnosis of growth
hormone (GH) related disorders
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)
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
Evaluation of short stature in children

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Evaluation of short stature in children

  • 1.
  • 2. Evaluation Of Short Stature in Children Dr Tariq Azam khattak MBBS (AM College MCPS ,FCPS(Pediatrics
  • 3. Growth Physiology Environment Genetic factors Growth Hormones •Growth hormone •Thyroid hormone Dietary factors •Gonadotrophins
  • 4. 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
  • 5. 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
  • 6. Growth Charts Easy Instrument Monitoring – Growth Velocity – Growth Pattern
  • 7. 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 )
  • 8. Etiology of short stature Physiological – Familial or genetic – Constitutional short stature Pathological – Malnutrition – Chronic systemic illness – Hormonal deficiency states
  • 9. 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
  • 10. Most parents contribute short stature to hormonal def. large randomized trials have shown only 5% cases are attributed to hormones Most common cause is malnutrition in developing countries Familial or constitutional is the leading cause in developed countries
  • 11. Approach to a child with short stature History Physical examination Height of the child Height of parents Plotting on growth chart workup
  • 12. History Birth history Nutritional history Chronic disease history (asthma, CHD, CLD,CRF, chronic diarrhea) Drugs….chronic steroid therapy Family history
  • 13. 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
  • 14. Height measurements Without footwear Heels & back touching the wall Looking straight ahead Gentle but firm pressure upwards applied to the mastoids from underneath US/ LS ratio Total Arm span
  • 15. Target height Target height in cm for a girl = [mother's height in cm + (father's height in cm - 13)] /2 Target height in cm for a boy = [(mother's height in cm + 13) + father's height in cm)] /2
  • 17. Workup for short stature Rule out chronic disease (Hemoglobin, hepatic and renal profile) Rule out malabsorption (esp. if history is suggestive) Karyotyping for all females with short stature to rule out turner syndrome X-ray for bone age (usually left wrist)
  • 18. Bone age Better correlate with SMR Predictor of future height
  • 19. Delayed bone age Constitutional short stature Hypothyroidism Celiac disease GH deficiency
  • 20. 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)
  • 21.
  • 22. 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
  • 23. 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
  • 24. 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 used successfully are arginine, levodopa, propranolol with glucagon, exercise, clonidine, or epinephrine. GH provocative testing should be done under the supervision of a pediatric endocrinologist
  • 25. 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 appears superior to determining either analyte alone in the diagnosis of growth hormone (GH) related disorders
  • 26. 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)
  • 27. 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