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Approach to a child with
Short Stature
- Dr. C.S.N.Vittal
How Short is – “Short” ?
Short Stature is typically defined as an
adult height that is more than
two standard deviations b...
Approach to a Child with Short Stature
Benign ?
•Familial
•Constitutional
Pathological ?
•Prenatal?
•Postnatal ?
.
Pathological ?
•Prenatal?.
Approach in History Taking
• IUGR ( Birth wt)
• Intrauterine infections
• Family History
• Cons...
Pathological ?
•Postnatal?.-
• Pattern
Approach in History Taking
Nutritional
Chronic visceral disease
Endocrine disorders...
Approach – Physical Examination
• Height & weight
• Height velocity
• Height of parents (Target Height)
• Dysmorphic featu...
Approach to a Child with Short Stature
With
Obesity
•Congenital
•Acquired
Without
Obesity
•Congenital
•Acquired
.
5 Endocrinal Causes
1. Hypothyroid
2. Hypopituitarism
3. Growth Hormone Deficiency
4. Cushing’s Syndrome
5. Pseudohypopitu...
Upper Segment – Lower Segment
 Upper Segment : vertex to upper end of symphysis pubis
 Lower Segment : upper end of symp...
Short
Stature
Proportionate
Normal Variants
• Familial
• Constitutional delay
in growth
Prenatal causes
• IUGR
• Intrauter...
Target height of the child
Mid Parental Height
• BOYS:
[Father’s Ht + Mother’s Ht ] + 13
2
• GIRLS:
[Father’s Ht + Mother’...
Sexual Maturity Rating – Tanner
Pre pubertal
Adult
THOROUGH SYSTEMS EVALUATION
• Look for
signs of
• CHD
• HTN
• CHF
• Chest
deformities
• Chronic
lung
disease
•cystic
fibro...
Height Velocity
• At birth : 50.00 cm (20”)
• Gain during 1st year : 25.00 cm (10”)
• Gain during 2nd year : 12.50 cm ( 5”...
Dysmorphic
Features
Laurence-Moon-Bardet-Biedl syndrome
• Autosomal recessive genetic disorder
– Obesity
– Retinal degeneration
– Extra digits...
Prader-Willi Syndrome
• Defect in the hypothalamus
– Insatiable appetite
– Stealing & eating pet foods and
spoiled items
–...
Alström Syndrome
• Photophobia
• Nystagmus
• Dilated cardiomyopathy and
congestive heart failure in
infants under 1 year o...
Frolich’s Syndrome
• Boys only
• Obesity
• Hypogonadism
• Retarded growth
• Short stature
• Malformed fingernails
• Headac...
Down Syndrome
• Hypotonia
• Hypertelorism
• Simian crease
• High arched palet
• Flat nasal bridge
• Protruding tongue
• Sh...
Turner Syndrome
• Girls only
• Cubitus valgus
• Coarctation of aorta
• Low hairline
• Broad chest with
widely placed
nippl...
Russell Silver Syndrome
• Low birth weight
• Failure to thrive
• Large head for body
• Pointed chin
• Thin, wide mouth
• T...
Achandroplasia
Morquio Syndrome
Short Limbed
Short Trunk
Hurler Syndrome
Evaluation of
Proportional Short Stature with
No Dysmorphic Features
Investigations
Level
• CBC, ESR
• BONE AGE
• Urinalysis- Rtn, pH,
Osmolality)
• Stool ( parasites,
steatorrhea, occult
blo...
3 Ages !
Height Age
Bone Age
Chronological Age
•A child with delayed bone age has
a better prognosis for future height
gai...
Bone Age Determination
 Ossification Centers at birth :
 Distal end of femur
 Proximal end of tibia
 Head of humerus
...
Bones of the Wrist
Bone Age
Greulich and Pyle and Tanner-Whitehouse (TW2)
• Two series of standard plates obtained from hand-
wrist radiograp...
Growth Charts
Now
Familial
Short Stature
Assessment:-
MPH = 151 cm (145–157cm)
Height Age = 9.5 years
Weight Age = 8.5 years
Diag:
Familial Short Stature
12 YEAR O...
13 YEARS BOY
Ht: 135 cm
Wt: 30 kg
Bone Age : 11 yrs
Father Ht : 169 cm
Mother Ht : 156 cm
Assessment:-
Target Height = 169...
A child with constitutional delay in growth and puberty, will reach
his normal expected height by adulthood ultimately.
6 year old boy
Constitutional
Short Stature
Constitutional Short Stature
Constitutional Growth Delay
• Sheer variant of normal growth
• Normal length at birth, growth...
15 Month Girl, IDM
Birth Wt : 4.1 Kg
Growth Failure ! ? !
No..only a ‘Catch Down’
correction,
as her both parents are shor...
Interpretation:-
Height Age = 7 years
Weight Age = 4.5 years
Diag:
Nutritional – TTG > 200
10 YEAR GIRL
Ht: 120 cm
Wt: 15 ...
Interpretation:-
Height Age = 3.5 years
Weight Age = 5 years
Diag:
Endocrine – GHD
8 YEAR BOY
Ht: 100 cm
Wt: 18 kg
Father ...
Interpretation:-
Bone Age : 11 yr
Height Age = 7 years
Weight Age = 7 years
Advanced bone age:
GnRH analogue
6 Yr Girl - T...
Interpretation:-
H A = 13.5 years
W A = 19 years
Diag:
Constitutional Obesity
12 Yr Boy, Obesity
Ht: 160 cm
Wt: 70 kg
Fath...
Interpretation:-
H A = 9 years
W A = 15.5 years
Diag:
Pathological Obesity
Another 12 Yr Boy
with Obesity
Ht: 132 cm
Wt: 5...
Growth Chart Interpretation
Wt Age < Ht Age < Age
Ht Age < Wt Age < Age
Nutritional
Endocrinal
Age < Ht Age < Wt Age
Ht Ag...
Common Normal Variantes of Short Stature
Familial (genetic) Constitutional
BA=CA BA<CA
BA=HA
N growth velocity N growth ve...
Remarkable delay in bone age
Endocrinopathies
Uncommon
Endocrinopathies
– Infantile body proportions
– Bone age retarded remarkably
– Growth velocity < 4 cm / year
– Confirmatio...
Endocrinopathies
• Cushing Syndrome :
– Exogenous steroid therapy
– Sec. to pituitary or adrenal tumor
– Overweight, growt...
Endocrinopathies
1. Congenital malformations of
hypothalamus and pituitary
2. Genetically determined
disturbances
3. Tumou...
Diagnosis :
by GH provocation tests
* IH – 0.1 IU/kg IV;
* ARG – 0.5 g/kg infusion
* CLO – 2 mcg/kg po;
* L-DOPA – 125mg, ...
Growth Hormone Therapy in Short Stature
Potential side effects
Dose of hGH
•Insulin resistance,
•Increased intracranial pr...
GH Therapy
Other Indications
1 Turner’s syndrome (+ Oxandralone)
2 Chronic Kidney Disease
3 Prader – Willie Syndrome
4 HIV...
Management Strategies of Short Stature
Chr Disease
•Inflammatory bowel
disease
•Renal tubular acidosis
•Zinc deficiency
•M...
Outcome & Treatment
• No specific treatment, reassurance
FSS, CDGP
• Limb lengthening with limited benefit. Guarded progno...
Summary
Jyoti AmgeChandra Bahadur Dangi
Record holding shortest living individuals
Approach to a child with short stature
Approach to a child with short stature
Approach to a child with short stature
Approach to a child with short stature
Approach to a child with short stature
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Approach to a child with short stature

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Approach to a child with short stature

  1. 1. Approach to a child with Short Stature - Dr. C.S.N.Vittal
  2. 2. How Short is – “Short” ? Short Stature is typically defined as an adult height that is more than two standard deviations below the mean for age and gender.
  3. 3. Approach to a Child with Short Stature Benign ? •Familial •Constitutional Pathological ? •Prenatal? •Postnatal ? .
  4. 4. Pathological ? •Prenatal?. Approach in History Taking • IUGR ( Birth wt) • Intrauterine infections • Family History • Consanguinity • Genetic Disorders • Developmental history • School performance • Onset of pubertal changes
  5. 5. Pathological ? •Postnatal?.- • Pattern Approach in History Taking Nutritional Chronic visceral disease Endocrine disorders Emotional deprivation Wt continue to increase Wt First? Wt & Ht Concurrently • Hormonal • Nutritional • Chronic Illness
  6. 6. Approach – Physical Examination • Height & weight • Height velocity • Height of parents (Target Height) • Dysmorphic features • Systemic examination • Pubertal development staging • Blood tests if necessary • Radiological examination
  7. 7. Approach to a Child with Short Stature With Obesity •Congenital •Acquired Without Obesity •Congenital •Acquired .
  8. 8. 5 Endocrinal Causes 1. Hypothyroid 2. Hypopituitarism 3. Growth Hormone Deficiency 4. Cushing’s Syndrome 5. Pseudohypopituitarism 5 Syndromal Causes 1. Prader-Willi syndrome 2. Laurence-Moon-Biedl syndrome 3. Alstrom syndrome 4. Down’s syndrome 5. Frolich’s syndrome Short Stature with Obesity
  9. 9. Upper Segment – Lower Segment  Upper Segment : vertex to upper end of symphysis pubis  Lower Segment : upper end of symphysis pubis to the sole. Normal Upper Seg. Lower Seg. At Birth 1.7 1.0 At 10-12 years 1.0 1.0 Adult 0.9 1.0 Decreases by 0.1 per year
  10. 10. Short Stature Proportionate Normal Variants • Familial • Constitutional delay in growth Prenatal causes • IUGR • Intrauterine infections • Genetic Disorders Postnatal Causes • Nutritional dwarfism • Chronic visceral disease • Endocrine disorders • Emotional deprivation Short Limbed • Achandroplasia • Chondrodysplasias • Diastrophic dysplasia Short Trunk • Spondyloepiphyseal dysplasia • MPS • Mucolipidoses • Caries spine • Hemivertebrae Disproportionate
  11. 11. Target height of the child Mid Parental Height • BOYS: [Father’s Ht + Mother’s Ht ] + 13 2 • GIRLS: [Father’s Ht + Mother’s Ht] - 13) 2 Inches: change 13 for 5’’ In cm
  12. 12. Sexual Maturity Rating – Tanner Pre pubertal Adult
  13. 13. THOROUGH SYSTEMS EVALUATION • Look for signs of • CHD • HTN • CHF • Chest deformities • Chronic lung disease •cystic fibrosis •asthma Resp CVS Abd CNS • Visual acuity • Visual fields •Hydroceph alus • Focal signs • Hepatomegaly • Splenomegaly • Masses • Ascites • Urine output Renal
  14. 14. Height Velocity • At birth : 50.00 cm (20”) • Gain during 1st year : 25.00 cm (10”) • Gain during 2nd year : 12.50 cm ( 5”) • Gain during 3rd year : 7.50 cm ( 3”) • Gain during 3-12 years : 5 – 7.5 cm (2-3”) • Adolescence : 8 cm/year (girls) :10 cm/year (boys) Most important aspect of growth evaluation • At any age, a growth velocity of < 4 cm / year is ABNORMAL
  15. 15. Dysmorphic Features
  16. 16. Laurence-Moon-Bardet-Biedl syndrome • Autosomal recessive genetic disorder – Obesity – Retinal degeneration – Extra digits on the hands and feet – Intellectual impairment • Gene responsible on chromosome 16
  17. 17. Prader-Willi Syndrome • Defect in the hypothalamus – Insatiable appetite – Stealing & eating pet foods and spoiled items – Obesity • Sleep disorders • Bouts of rage • Higher threshold for pain • Compulsive behaviors • Gene responsible on chromosome 15
  18. 18. Alström Syndrome • Photophobia • Nystagmus • Dilated cardiomyopathy and congestive heart failure in infants under 1 year of age. • Obesity • Later ages: – Blindness – Hearing impairment, – Type 2 diabetes – Multisystem involvement
  19. 19. Frolich’s Syndrome • Boys only • Obesity • Hypogonadism • Retarded growth • Short stature • Malformed fingernails • Headaches
  20. 20. Down Syndrome • Hypotonia • Hypertelorism • Simian crease • High arched palet • Flat nasal bridge • Protruding tongue • Short stature • Multiple system involvements
  21. 21. Turner Syndrome • Girls only • Cubitus valgus • Coarctation of aorta • Low hairline • Broad chest with widely placed nipples • Streak ovaries
  22. 22. Russell Silver Syndrome • Low birth weight • Failure to thrive • Large head for body • Pointed chin • Thin, wide mouth • Triangle-shaped face with broad forehead • Methylation defect • Chromosome 7, 11 involved
  23. 23. Achandroplasia Morquio Syndrome Short Limbed Short Trunk Hurler Syndrome
  24. 24. Evaluation of Proportional Short Stature with No Dysmorphic Features
  25. 25. Investigations Level • CBC, ESR • BONE AGE • Urinalysis- Rtn, pH, Osmolality) • Stool ( parasites, steatorrhea, occult blood) • Blood ( RFT, Calcium, Phosphate, alkaline phosphatase, venous gas, fasting sugar, albumin, transaminases Level2 • S thyroxin, TSH • Buccal smear • Malabsorption studies • Renal acidification studies • Urinary aminoacidogram • Imaging (US, CT, MRI scans) Level3 • Karyotyping • Celiac serology (anti-endomysial or anti- tissue transglutaminase antibodies) • Duodenal biopsy • GH stimulation test • Serum insulin like GF-1 levels, IGFBP – 3 levels
  26. 26. 3 Ages ! Height Age Bone Age Chronological Age •A child with delayed bone age has a better prognosis for future height gain than those with appropriate or advanced bone age. • Indicator of skeletal maturation. • Age at which the child should have reached his or her height • Actual age of the child
  27. 27. Bone Age Determination  Ossification Centers at birth :  Distal end of femur  Proximal end of tibia  Head of humerus  Calcaneus  Talus  Cuboid  Ossification Centers at 1 year:  Upper end of humerus  Carpal centers - 2 mo (1 center for each yr from then onwards)  Ossification at 3 yrs :  Metacarpal and phalangeal epiphyses  Ossification Centers at 8-12 yrs:  Distal ulna (8-9 in girls and 10-12 in boys)  Ossification Centers at 12-16 yrs:  Lesser Trochanter – 12 yrs  Iliac Crest – 16 yrs X Ray of Which Bones ? • Newborn - Foot & knee • 3 – 9 mo. - Shoulder • 1 – 13 years - Hands & wrist • 12 – 14 years - Elbow & hip Primarily based on :  Appearance of epiphyseal ossification centers Fusion of ossification centers
  28. 28. Bones of the Wrist
  29. 29. Bone Age Greulich and Pyle and Tanner-Whitehouse (TW2) • Two series of standard plates obtained from hand- wrist radiographs of white, upper middle-class boys and girls enrolled in the Brush Foundation Growth Study from 1931 to 1942 • These are ‘central tendencies’, which are modal levels of maturity within chronological age groups. • The radiograph to be assessed is compared with the series of standard plates, and the age given to the standard plate that fits most closely is assigned as the skeletal age of the child
  30. 30. Growth Charts
  31. 31. Now
  32. 32. Familial Short Stature
  33. 33. Assessment:- MPH = 151 cm (145–157cm) Height Age = 9.5 years Weight Age = 8.5 years Diag: Familial Short Stature 12 YEAR OLD GIRL Ht: 135 cm Wt: 28 kg Bone Age: 11 yrs Father Ht : 164 cm Mother Ht : 151cm
  34. 34. 13 YEARS BOY Ht: 135 cm Wt: 30 kg Bone Age : 11 yrs Father Ht : 169 cm Mother Ht : 156 cm Assessment:- Target Height = 169 cm Height Age = 9.5 years Weight Age = 9.5 years Diag: Constitutional Delay of Puberty and Growth
  35. 35. A child with constitutional delay in growth and puberty, will reach his normal expected height by adulthood ultimately.
  36. 36. 6 year old boy Constitutional Short Stature
  37. 37. Constitutional Short Stature Constitutional Growth Delay • Sheer variant of normal growth • Normal length at birth, growth normally for several months and usually deviated from normal growth pattern between 6 and 36 months. • After this age the height velocity is normal and parallel to the normal curve but a lower level. • Bone age is consistent with height • Onset of puberty is delayed • Eventually, adult height and sexual maturation are normal • Persistence of relatively hypogonadotrophic state of childhood is believed to be responsible • One or both parents / close family member have h/o. short stature
  38. 38. 15 Month Girl, IDM Birth Wt : 4.1 Kg Growth Failure ! ? ! No..only a ‘Catch Down’ correction, as her both parents are short! The poorly controlled hyperglycmia (environment) is the cause for big size at birth, while the gentic potential made the correction by 2 years.
  39. 39. Interpretation:- Height Age = 7 years Weight Age = 4.5 years Diag: Nutritional – TTG > 200 10 YEAR GIRL Ht: 120 cm Wt: 15 kg Father Ht : 163 cm Mother Ht : 150cm
  40. 40. Interpretation:- Height Age = 3.5 years Weight Age = 5 years Diag: Endocrine – GHD 8 YEAR BOY Ht: 100 cm Wt: 18 kg Father Ht : 169 cm Mother Ht : 156cm Bone Age : 3 years
  41. 41. Interpretation:- Bone Age : 11 yr Height Age = 7 years Weight Age = 7 years Advanced bone age: GnRH analogue 6 Yr Girl - Thelarche Ht: 124 cm Wt: 24 kg F : 163 cm M : 150 cm
  42. 42. Interpretation:- H A = 13.5 years W A = 19 years Diag: Constitutional Obesity 12 Yr Boy, Obesity Ht: 160 cm Wt: 70 kg Father Ht : 169 cm Mother Ht : 156 cm
  43. 43. Interpretation:- H A = 9 years W A = 15.5 years Diag: Pathological Obesity Another 12 Yr Boy with Obesity Ht: 132 cm Wt: 59 kg Father Ht : 169 cm Mother Ht : 156 cm
  44. 44. Growth Chart Interpretation Wt Age < Ht Age < Age Ht Age < Wt Age < Age Nutritional Endocrinal Age < Ht Age < Wt Age Ht Age < Age < Wt Age Nutritional Endocrinal
  45. 45. Common Normal Variantes of Short Stature Familial (genetic) Constitutional BA=CA BA<CA BA=HA N growth velocity N growth velocity Appropriate target height Appropriate target height
  46. 46. Remarkable delay in bone age Endocrinopathies Uncommon
  47. 47. Endocrinopathies – Infantile body proportions – Bone age retarded remarkably – Growth velocity < 4 cm / year – Confirmation – Low T4 and high TSH levels
  48. 48. Endocrinopathies • Cushing Syndrome : – Exogenous steroid therapy – Sec. to pituitary or adrenal tumor – Overweight, growth retardation – Delayed epiphyseal maturation – Moon facies, abdominal striae – Hypertension – Reduced glucose tolerance
  49. 49. Endocrinopathies 1. Congenital malformations of hypothalamus and pituitary 2. Genetically determined disturbances 3. Tumours 4. Chronic inflammation 5. Following radiotherapy and chemotherapy for neoplastic disease 6. May be as a part of panhypopituitarism 7. Idiopathic 8. Laron Syndrome (GH Unresponsiveness) Uncommon
  50. 50. Diagnosis : by GH provocation tests * IH – 0.1 IU/kg IV; * ARG – 0.5 g/kg infusion * CLO – 2 mcg/kg po; * L-DOPA – 125mg, 250mg, 500mg po for BW <15, 15-30, >30 kg * Propranolol (0.75 mg./kg.) * 20 min. vigorous exercise (e.g. climbing stairs): - Sampling at 0, 30, 60, 90, 120 min: - All samples to be tested separately. - If ANY level > 10 ng/ml, no deficiency. (GH non responsiveness – possible) - If all levels < 10 ng/ml, refer to pediatric endocrinologist for GH treatment. Single, basal sample is USELESS
  51. 51. Growth Hormone Therapy in Short Stature Potential side effects Dose of hGH •Insulin resistance, •Increased intracranial pressure, •Sleep apnea •? Increased risk of neoplasia 0.2 to 0.3 mg / kg / week Subcutaneously
  52. 52. GH Therapy Other Indications 1 Turner’s syndrome (+ Oxandralone) 2 Chronic Kidney Disease 3 Prader – Willie Syndrome 4 HIV – Wasting Syndrome 5 SGA - who haven’t reach the 5th percentile by 2 yrs 6 Russel Silver Syndrome 7 Idiopathic Short Stature
  53. 53. Management Strategies of Short Stature Chr Disease •Inflammatory bowel disease •Renal tubular acidosis •Zinc deficiency •Malabsorption •Hypophosphatemia •Mal-digestionNutritional •Treat malnutrition •Deworming •Dietary Counseling Hormonal •Thyroid hormone : •GH deficiency : GH •IGF -1 Therapy – (In Laron Syndrome) Psychological •Counseling •Behavioural therapy
  54. 54. Outcome & Treatment • No specific treatment, reassurance FSS, CDGP • Limb lengthening with limited benefit. Guarded prognosis Skeletal dysplasias • Specific Treatment – Good Catch-up Growth Chronic systemic disorder • Levothyroxine – Good Result Hypothyroidism • Hormone Treatment – Good results GH Deficiency • GnRH agonists,GH, Specific tt @ right time ->good results Precocious Puberty
  55. 55. Summary
  56. 56. Jyoti AmgeChandra Bahadur Dangi Record holding shortest living individuals

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