basic approach on short stature in children

1. short stature

2. • By the end of this lecture, we will be able to:
• Define short stature.
• Mention types of short stature.
• Mention the principles of diagnosis.
• Identify the causes of short stature.
• Outlines about Managements.
• I may use Kurdish language some times for
clarification and discussion ???

3. Growth
• Growth refers to an increase in physical size of
the whole body or any of its parts.
• It is simply a quantitative change in the child’s
body.
• It can be measured in Kg, pounds, meters,
inches, ….. etc

4. Development
• Development refers to a progressive increase
in skill and capacity of function.
• It is a qualitative change in the child’s
functioning.
• It can be measured through observation.

5. Factors affecting growth
• Birth size
• Nutrition
• General well being
• Psycosocial factors
• Endocrinal factors

6. Normal growth
• Length at birth :50 cm
• Length at 1 yr : 75 cm
• Height at 4 yr : height at birth X 2 (100 cm )
• Height at 13 yr : height at birth X 3
• From 2-12 yr : age (yr ) X 6 + 77

7. Is she short?
• Example:
• 5 Y – girl

8. Assessment of a child with short
stature
• Accurate height measurement& height velocity
• Height plotted on appropriate growth chart.

9. Normal Measuring
• Supine length < 2 y of age
• For measurement of supine
length it is best to use a firm
box with an inflexible board
against which the head lies,
with a movable footboard on
which the feet are placed.
• Erect height > 2 y
• The head is held in a horizontal
plane
• Upward pressure is applied to
the mastoid processes in order
to encourage the child to stand
up straight.

10. Is she short?
• Example:
• 5 Y – girl –
• Ht=105 cm
• Wt=17 Kg
50

11. Is she short?
• Example:
• 3 Y – girl –
• Ht=95 cm
• Wt=10 Kg
50
3rd

12. Short Stature Vs F.T.T
• short stature should not be confused with
failure to thrive.
• Failure to thrive is associated with greater
impairment in weight gain than linear growth
(resulting in a reduced weight-for-height ratio).
• Although failure to thrive may be associated
with short stature or slow growth velocity, it
primarily represents an inability to gain weight
appropriately and only secondarily an
impairment in linear growth

13. • Short child: Any child whose height falls below
the 3rd centile for his/her community.
• Failure of physical growth
• The term ‘Dwarfism’ is no longer used for short
stature
• Apprximately 3% children in any population will
be short .
• Half of them normal variants(familial or
constitutional short stature).

14. Is he short?
• Example:
• 3Y – boy –
• Ht=85 cm
• Wt=14 Kg
3rd

15. Short child
• FIVE GOLDEN POINTS
• 1- Accurate & Serial measures .
• 2- Mid Parental Height (MPH).
• 3- Height age.
• 4- Bone Age.
• 5- appropriates Investigations.

16. Important definitions
• Chronological age – Actual age of the child.
• Height age – it’s the age at which the height of the
child is at 50th centile.
• Bone age - is an indicator of skeletal maturation.
• Target MPH: F+M/2 +6.5 for boys and -6.5 for girls.
• Then plot the result on Growth Chart at Age 20 to
form Family chart ±10 to form centile

17. Guidelines for referral
 UK guidelines, depend on single
measurement on school entrance,
at 5years of age , no data on
sensitivity and specificity

18. Body Proportions
• Lower segment (LS): Measure from the symphysis pubis
to the floor.
• Upper segment (US): Subtract the LS from the height.
• U/L birth = 1.7
• U/L 3years = 1.3
• U/L > 7 years = 1
• Proportionate (ie, involves both the trunk and the lower
extremities) or
• Disproportionate (ie, involves one more than the other).

19. • Disproportionate (ie, involves one more than the other).
• U/L > Increase ratio ---------- short lower limb.
• (e.g. Achondroplasia, Skeletal dysplasia)
• U/L < Decrease ratio :
• Short trunk (Scoliosis, MPS)
• Short neck (Turner Syndrome).

20. Mid parental height (MPH)
• Comparison with child’s own genetic potentia
• Mid parental height for boys
• MPH = mother's height + father's height /2 + 6.5cm
• Mid parental height for girls
• MPH = mother's height + father's height /2 – 6.5cm
• Then plot the result on Growth Chart at Age 20 to
form Family chart ±10

21. Family Chart
• Example: 3 Y – girl –
• Ht=85 cm --Wt=10 Kg
• Father Ht= 165 cm
• Mother Ht= 155 cm
• MPH= 160-6.5=
• 153.5
• Plot on age 20
• 153.5 ±10
• 143.5 – 163.5
3rd
MPH= 153.5±10

22. Height age
• Height of a person at the 50th percentile
for their age.

23. Height age
• Examples:
• Girl- Age = 5 y
• Ht= 95 cm
• Height age= ?

24. • Example: 10 Y
male,HT=115
• HT< 3RD
• HA= 6 Y

26. • Bone age estimated from an x-ray of the left wrist and hand
should be undertaken as part of the routine evaluation of
children with growth failure over 1 year of age.
• It is important investigation in evaluation of patient with short
stature and diagnosis of GHD in which it is usually delayed.

27. the Greulich-Pyle Atlas method (GP method) in which
a left-hand wrist radiograph is compared by means of a
sequence of radiographs grouped in the atlas according to
age and gender.

28. Is she short?
• Example: 3 Y – girl –
• Ht=85 cm --Wt=10
Kg
• Father Ht= 165 cm
• Mother Ht= 155 cm
• MPH= 160-6.5=
• 153.5
• Plot on age 20
• 153.5 ±10
• 143.5 – 163.5
• Bone Age = normal
50th
3rd
MPH= 153.5±10
Familial short stature

29. Is she short?
• Example: 5.5 Y – girl
• Ht= 98 cm --Wt=13
Kg
• Father Ht= 175 cm
• Mother Ht= 165 cm
• MPH= 170-6.5=
• 163.5 ±10
• HT Age=3.5 years
• Bone Age=3.5 years
50th
3rd
MPH= 163.5 ±10
Constitutional short stature

30. Features Familial Short
Stature
Constitutional
Delay
Parent’s Stature Small one or both Average
Parent’s Puberty Usual timing Delayed
Birth Length Normal Normal
Growth Normal Normal to slow
Growth Puberty Normal Slow
Bone Age Normal Delayed
Timing of Puberty Normal Delayed
Puberty Growth
Rate
Low range of Normal Diminished
Adult Height Short Normal

31. Is she short?
• Example: 5 Y – girl –
• Ht= 98 cm --Wt=15 Kg
• Father Ht= 175 cm
• Mother Ht= 165 cm
• MPH= 170-6.5=
• 163.5 ±10
• HT Age=3.5 years
• Bone Age=1 year
50th
3rd
MPH= 163.5 ±10
Pathological short stature

32. Investigations
Level 1 ( essential investigations):
• Complete hemogram with ESR
• BONE AGE
• Urinalysis ( Microscopy, pH, Osmolality)
• Stool ( parasites, steatorrhea, occult blood)
• Blood ( RFT, Calcium, Phosphate, alkaline
phosphatase, fasting sugar, albumin,
transaminases)

33. Level 2:
• Serum thyroxine, TSH
• Karyotype to rule out Turner syndrome in girls
• Observe height velocity for 6-12 months
• If height < 3SD level 3 investigations
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

35. • GH secretion occurs in discrete irregular pulses
• Between the pulses, circulating GH falls to levels that are
undetectable with current assays
• Greatest GH levels at night, generally correlating with the onset
of sleep
• GH secretion is influenced by other physiological stimuli such as
nutrition and exercise

36. • Random sampling of serum GH is insufficient to diagnose
GH deficiency; GH stimulation tests are required
• A limited number of provocative agents should be
used after an overnight fast in a well standardized
protocol.
• Insulin tolerance test (ITT)
• Glucagon test (100 microgrammes/kg BW IM(max.1 mg)
• L-dopa test
• Arginine test(0.5g/kg BW , slow IV infusion (max,30g) ,
• Clonidine test (0.1- 0.15 mg/kg BW orally).

37. •In healthy volunteers peak GH levels are 10 ng/ml (20 mU/ml).
•If peak GH level of 10 ng/ml (20 mU/ml) is detected , it exclude
classical GHD
•In a classical GHD case a GH peak is not detected or GH peak is
less than 3 ng/ml (6 mU/ml) in all these tests.
•In partial GHD cases GH peak of 8-10 ng/ml (16-20 mU/ml)
may be seen.

38. • IGFBP-3 and IGF-1 serum levels represent a
stable and integrated measurement of GH
production and tissue effects
• 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

39. • 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-----
• If GH also low then GH def,
• if GH normal or high then GH resistance
( Primary IGF-1 def), (Laron syndrome).

40. Approach to short stature
(now in Heevi Hospital)
1- Height (CDC) ↓ 3rd centile
2- Family Chart: HT ↓ MPH
3- Bone age evaluation by greulich and pyle method.
4- BA < HA<CA (Pathological Short Stature)
5- Investigations: level 1 general then Level 2 TFT
6- Provocative tests (GH stimulation tests)&IGF
Familial Short Stature Constitutional Short Stature Pathological Short Stature
↓3rd Centile ↓3rd Centile ↓3rd Centile
↔ MPH ↓ MPH ↓ MPH
BA = CA Normal BA = Height Age < CA BA < HA<CA

41. • Counselling of parents ( for physiological causes)
• Dietary advice ( Undernutrition, Celiac disease,)
• GH s/c injections .
• Limb lengthening procedures ( skeletal dysplasias )
• Levothyroxine ( In Hypothyroidism)
Management

43. • Growth hormone deficiency .(The
prevalence between 1 in 3500 and 1 in 4000
children)
• Turner syndrome.
• Prader-Willi syndrome
• Chronic renal insufficiency
(pretransplantation)
• Children born small for gestational age
SGA: Growth failure at 4 years or older in
those born small for gestational age.
(Approximately 10% of SGA do not reach the
normal height range)

44. The dosage of somatropin should be tailored to the needs of
each individual child& varies according to the condition being
treated:
• 23–39 microgram/kg daily for growth hormone
deficiency.
• 45–50 microgram/kg daily for Turner syndrome and CRI.
• 35 microgram/kg daily for growth disturbance in children
born small for gestational age.
• Somatropin is self-administered or given to the child
by an adult, at home, usually as a subcutaneous
injection, 6–7 times a week.The maximum
recommended daily dose should not be exceeded.

45. • Gains in final height for children treated with
somatropin compared with untreated children
ranged from approximately 3 to 11 cm
• for growth hormone deficiency 8–11 cm.
• Turner syndrome 5 cm.
• Chronic renal insufficiency 3–9 cm.
• Long-term continuous GH treatment in short
children born SGA without signs of persistent
catch-up growth leads to a normalization of
adult height.

46. Treatment with somatropin should be discontinued if any of
the following apply:
• final height is attained.
• Decision by patient that he/she is tall enough.
• growth velocity increases less than 50% from
baseline in the first year of treatment
• final height is approached and growth velocity is less
than 2 cm total growth in 1 year.
• BA >14years in girls & 16years in boys.
• there are insurmountable problems with adherence

47.  required as there is risk of :primary hypo
thyroidism/adrenal insuffiency so periodic
follow up needed.
Pseudotumour cerebri, hyperglycemia, acute
pancreatitis, liver abnormalities,
gynaecomastia,

48. Short Stature
1) Prenatal Causes:
i) Intra-uterine
Growth
Restriction
ii) Intra-uterine
Infections
iii) Genetic Disorders
(Chromosomal
& Metabolic
Disorders)
Proportionate Short Stature
Normal Variants
* Familial short stature
* Constitutional Delay
Pathological
Disproportionate Short Stature
2) Postnatal Causes:
i) Undernutrition
ii) Chronic Systemic Illness
-CVD: CHD,.
-RSD: Asthma.
- Renal: RTA, CRF.
- GI T: Malabsorption.
- Chronic Severe Infections
-Hematological:Thalassemia.
-iii) Psychosocial Short
Stature .
iv ) Endocrine Causes:
-Growth Hormone
Deficiency.
-Hypothyroidism
1- With Short Limbs:
Achondroplasia
2- With Short Trunk:
Mucopolysacchari
dsis

49. THANKS FOR YOUR
ATTENTION