Short stature approach

1. Approach to short stature
Dr.Yassin M Al-Saleh

3.  Their Prophet said to them: 'Allah has raised
Saul to be your king. ' But they replied: 'Should
he be given the kingship over us, when we are
more deserving of it than he and he has not
been given abundant wealth? ' He said: 'Allah
has chosen him over you and increased him
with amplitude in knowledge and body. Allah
gives His kingship to whom He will. Allah is the

4. Case scenario
 5y8m old boy brought by parent with
concern regarding the growth.


5. Case scenario cont.
 Not growing well since birth.
 Systemic review:
 Chronic constipation since birth.
 Pallor.
 Anorexia.
 Wearing glasses.

6. Case scenario cont.
 Perinatal: FT,NSVD, BW: normal
 Uneventful pregnancy.
 Past medical : Chronic constipation
since birth mostly functional.
 Past surgical: Rectal biopsy twice.
Inconclusive.
 Medication: Was on lactlose and
enema no more.

7. Case scenario cont.
 Allergy: none.
 Diet: poor appitite , anorexic most of
the time.
 Development: excellent in KG.
 Family history: consangous marriage .
 4 other brothers all tall.
 No family history of short relative or
constiotional.
 Social: unremarkable

8. Case scenario cont.
Exam:
 Soft dysmorphism .
 no disproportion.
 Vital sign: stable
 Weight on third. HT 3 SD below the mean HC normal
 MPH172. upper to lower segment : 1.2
 Arm span -2
 Height velocity 3cm per year
 pubertal status. Tanner 1
 Nutritional status cachectic
 Systemic exam:
 head-to-toe fair color, wearing glasses.
 CVS,CHEST,ABDOMIN,neuro, thyroid,
musculoskeletal.

9.  DDx:
 Systemic diseases:
 Gastrointestinal
 Malapsorption ,celiac
 cystic fibrosis
 renal disease
 renal tubular acidosis
 chronic renal insufficiency
 Hematological:
 Anamia.
 Endocrinopathies:
 Hypothyrodism.
 GHD. ISS.

10. INTRODUCTION
 Definition of short stature:
 length or height more than 2 (SD) below
the mean (<2.3rd percentile.)
 for children of that sex and chronologic
age (and ideally of the same racial-ethnic
group) .

13. Growth failure
• height below 3rd percentile (-2SD for
age and gender)
• height significantly below genetic
potentials (-2SD below mid-parental
target)
• abnormally slow growth velocity
• downwardly crossing percentile
channels on growth chart .

14. Normal Growth
Genetic
Nutritional
Metaboli
c
Endocrin
e
Enviroment
al

16.  Statural growth is a continuous but not linear
process.
 Rule of five.
length
age
Growth
velocity
50cm 75cm 100c
m
birth 1 year 4 year 12 year
150c
m
25cm/year 10cm/year 5cm/year
physiology

17. Evaluation
 plotted on an appropriate growth
chart.
 Length is measured lying down and
should be used for infants and
children up to 24 months of age .
 height is measured standing and
should be used for children 2 years
and above.

19.  If the growth velocity is subnormal
(below the 25th percentile for age) the
child should be thoroughly
investigated.
growth velocity

21. causes
familial short stature
constitutional growth delay
small for gestational age
genetic syndromes
Down syndrome, Turner syndrome
Prader-Willi syndrome,RSS
skeletal dysplasia
achondroplasia, hypochondroplasia
Nonorganic aetiologies psychosocial deprivation

22. Causes cont.
Systemic diseases
infectious
HIV, tuberculosis
cardiac disease
renal disease
renal tubular acidosis
chronic renal insufficiency
Gastrointestinal
Malapsorption ,celiac
cystic fibrosis
inflammatory bowel disease
chronic lung disease, bronchial asthma
malignancy
central nervous system disease

23. Causes cont.
endocrinopathies
hypothyroidism
hypopituitarism
isolated GH deficiency
insensitivity (Laron syndrome)
glucocorticoid excess
Cushing syndrome, exogenous steroids
precocious puberty
pseudohypoparathyroidism
pseudopseudohypoparathyroidism

24. Growth
hormone
deficiency

25. Growth hormone deficiency
epidemiology
 The incidence :about 1:4000 to 1:10000
 3 to 30 % of children with growth
hormone deficiency (GHD) have an
affected parent, sibling, or child.

26. Growth hormone deficiency
epidemiology
idiopathiccongenital acquired

27. congenital
• Mutations:
• Prop-1. Pit-1
• Septo-optic dysplasia

28. acquired
 Head trauma
 Tumor
 Inflammatory (Histiocytosis X,
autoimmune)
 CNS radiation

29. CLINICAL PRESENTATION
 The single most important clinical
manifestation of GHD is growth failure.
 Congenital :
 breech presentation and perinatal
asphyxia.
 hypoglycemia and prolonged jaundice.
 The penis may be small.

30. Evaluation
History
AND
physical
examination

31. History
Current
When and how discovered
Systemic review
Birth and Antenatal
maternal history of smoking,
hypertension, diabetes
birth weight and length
gestational age, mode of delivery
Apgar score
neonatal complication
Nutrition and allergy
pattern of growth from birth
development
Social
Maternal and child relationship
Family History
short stature
age of onset of puberty in
family members
diseases in the family.
Past history
Medical ,surgical and drug intake

32. Physical Examination
Anthropometry
height, weight, head circumference
height velocity
arm span, maneuvers
ratios of upper to lower segments
Systemic exam
general appearance, dysmorphism,
Vital sign,
pubertal staging
ENT, CVS, RS, abdomin , NEURO,
musculoskeletal,
mid-parental height (MPH)

33. Investigation
1st step
CBC, diff, ESR
Electrolytes, creatinine, bicarbonate, calcium,
phosphate, alkaline phosphatase, albumin, Urinalysis.
TSH, Free T4.
serological screen for celiac disease
Karyotype
Bone age

34. Greulich & Pyle Atlas

37. Investigation
2nd step
Insulin-like growth factor-1 (IGF-I) (SM-C)
Insulin-like growth factor binding protein-3 (IGFBP-3)
3rd step
provocative growth hormone (GH) testing
MRI

38. GH stimulation test
 insulin, arginine, clonidine , glucagon.
 GH peak after stimulation < 10 ng/ml

39. Management
• treat underlying cause.
• psychological support for non-treatable
causes.

40. indications for GH treatment
• GH deficiency.
• Turner syndrome.
• Noonan syndrome.
• Russel silver syndrome
• small for gestational age.
• chronic renal insufficiency.
• idiopathic short stature.
• Prader–Willi syndrome .

41. GH treatment
 GH dose: 0.18 - 0.3 mg/kg/day (0.5 -
1.0 units/kg/wk) at night.
 25-35 mic per kg per day
 GH treatment should start with low
doses and be titrated according to
clinical
 patients should be monitored at 3-
month intervals

46.  continue treatment till child reaches
near final height.
 a height velocity of < 2cm / year
 bone age :
 >13-14 years in girls
 >15-16 years in boys.
when to stop

47. complications
• increased intracranial pressure.
• SCFE.
• Impaired GTT.
 joint pain, muscle pain.
 carpal tunnel syndrome.
 Pancreatitis.
 Scoliosis.
 Increased risk of recurrence of
neoplasim.

48. Any new treatment??
 insulin-like growth factor (IGF).
 GnRH analoug.
 Aromates inhibitor.
 Testosterone.

49. Appendages

50. History
 1958: Maurice
Raben purified GH
from cadaver
pituitary glands;
treated patient who
had GH deficiency.

51. History
• 1981: Boyer and Swanson use recombinant DNA
technology to synthesize GH – the first such use of this
technology.
• 1985: Four cases of Creutzfeldt-Jakob disease in
recipients of cadaver-derived GH
• 1985: FDA approves recombinant DNA-derived human
GH for children with GH-deficiency

52. Gallery

53. Turner syndrome

54. prader-willi syndrome

55. russell silver syndrome

56. Seckel syndrome

57. achondroplasia