Approach to a child with short stature
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Approach to a child withShort Stature
- Dr. C.S.N.Vittal
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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.
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Approach to a Child with Short Stature
Benign ?
• Familial• Constitutional
Pathological ?
• Prenatal?• Postnatal ?.
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Pathological ?
• Prenatal?.
Approach in History Taking
• IUGR ( Birth wt)• Intrauterine infections• Family History• Consanguinity• Genetic Disorders• Developmental history• School performance• Onset of pubertal changes
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Pathological ?
• Postnatal?.-• Pattern
Approach in History Taking
Nutritional
Chronic visceral disease
Endocrine disorders
Emotional deprivation
Wt continue to increase
Wt First?
Wt & HtConcurrently
• Hormonal
• Nutritional
• Chronic Illness
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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
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Approach to a Child with Short Stature
With Obesity
• Congenital• Acquired
Without Obesity
• Congenital• Acquired.
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5 Endocrinal Causes 1. Hypothyroid2. Hypopituitarism3. Growth Hormone Deficiency4. Cushing’s Syndrome5. Pseudohypopituitarism
5 Syndromal Causes 6. Prader-Willi syndrome7. Laurence-Moon-Biedl syndrome8. Alstrom syndrome9. Down’s syndrome10. Frolich’s syndrome
Short Stature with Obesity
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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
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Short Stature
Proportionate
Normal Variants• Familial• Constitutional delay in growthPrenatal causes• IUGR• Intrauterine infections• Genetic DisordersPostnatal 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
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Target height of the childMid 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
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Sexual Maturity Rating – Tanner
Pre pubertal
Adult
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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
• Hydrocephalus
• Focal signs
• Hepatomegaly
• Splenomegaly
• Masses• Ascites
• Urine output
Renal
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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
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Dysmorphic
Features
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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
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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
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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
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Frolich’s Syndrome
• Boys only• Obesity • Hypogonadism• Retarded growth • Short stature • Malformed fingernails • Headaches
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Down Syndrome• Hypotonia• Hypertelorism• Simian crease• High arched palet• Flat nasal bridge• Protruding tongue• Short stature• Multiple system
involvements
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Turner Syndrome• Girls only• Cubitus valgus• Coarctation of aorta• Low hairline• Broad chest with
widely placed nipples
• Streak ovaries
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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
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Achandroplasia
Morquio Syndrome
Short Limbed
Short Trunk
Hurler Syndrome
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Evaluation of Proportional Short Stature with
No Dysmorphic Features• Routine
& SpecialsLabs
• Bone age assessmentRadiology
• Growth Velocity / Pattern assessment
Growth Chart
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InvestigationsLe
vel • 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
Leve
l 2
• S thyroxin, TSH• Buccal smear• Malabsorption
studies• Renal acidification
studies• Urinary
aminoacidogram• Imaging (US, CT,
MRI scans)
Leve
l 3 • Karyotyping• Celiac serology
(anti-endomysial or anti- tissue transglutaminase antibodies)
• Duodenal biopsy• GH stimulation test • Serum insulin like
GF-1 levels, IGFBP – 3 levels
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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
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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 centersFusion of ossification centers
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Bones of the Wrist
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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
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Growth Charts
Ht & Wt Percentile Absolute status
Parental expectation Familial effect
Ht and Wt age Nutritional effect
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Now
Let us study some cases
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FamilialShort Stature
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Assessment:-MPH = 151 cm (145–157cm)Height Age = 9.5 yearsWeight Age = 8.5 years
Diag:Familial Short Stature
12 YEAR OLD GIRL
Ht: 135 cmWt: 28 kgBone Age: 11 yrs
Father Ht : 164 cmMother Ht : 151cm
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13 YEARS BOYHt: 135 cmWt: 30 kgBone Age : 11 yrs
Father Ht : 169 cmMother Ht : 156 cm
Assessment:-Target Height = 169 cmHeight Age = 9.5 yearsWeight Age = 9.5 years
Diag:Constitutional Delay of Puberty and Growth
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A child with constitutional delay in growth and puberty, will reachhis normal expected height by adulthood ultimately.
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6 year old boy
Constitutional Short Stature
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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
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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.
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Interpretation:-
Height Age = 7 yearsWeight Age = 4.5 years
Diag:Nutritional – TTG > 200
10 YEAR GIRL
Ht: 120 cmWt: 15 kg
Father Ht : 163 cmMother Ht : 150cm
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Interpretation:-
Height Age = 3.5 yearsWeight Age = 5 years
Diag:Endocrine – GHD
8 YEAR BOY
Ht: 100 cmWt: 18 kg
Father Ht : 169 cmMother Ht : 156cm
Bone Age : 3 years
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Interpretation:-
Bone Age : 11 yr
Height Age = 7 yearsWeight Age = 7 years
Advanced bone age:GnRH analogue
6 Yr Girl - Thelarche
Ht: 124 cmWt: 24 kg
F : 163 cmM : 150 cm
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Interpretation:-
H A = 13.5 yearsW A = 19 years
Diag:Constitutional Obesity
12 Yr Boy, Obesity
Ht: 160 cmWt: 70 kg
Father Ht : 169 cmMother Ht : 156 cm
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Interpretation:-
H A = 9 yearsW A = 15.5 years
Diag:Pathological Obesity
Another 12 Yr Boy with Obesity
Ht: 132 cmWt: 59 kg
Father Ht : 169 cmMother Ht : 156 cm
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Growth Chart Interpretation
Short Stature
Wt Age < Ht Age < Age
Ht Age < Wt Age < Age
Nutritional
Endocrinal
Obesity
Age < Ht Age < Wt Age
Ht Age < Age < Wt Age
Nutritional
Endocrinal
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Common Normal Variantes of Short Stature
Familial (genetic) Constitutional
BA=CA BA<CABA=HA
N growth velocity N growth velocity
Appropriate target height
Appropriate target height
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Remarkable delay in bone age
Hypothyroidism
Endocrinopathies
Hypercortisolism
Diabetes mellitus
GH Deficiency / Unresponse
Uncommon
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Hypothyroidism
Endocrinopathies
– Infantile body proportions– Bone age retarded remarkably– Growth velocity < 4 cm / year– Confirmation – Low T4 and
high TSH levels
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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
Hypercortisolism
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Endocrinopathies
1. Congenital malformations of hypothalamus and pituitary
2. Genetically determined disturbances
3. Tumours4. Chronic inflammation5. Following radiotherapy and
chemotherapy for neoplastic disease
6. May be as a part of panhypopituitarism
7. Idiopathic8. Laron Syndrome (GH Unresponsiveness)
GH Deficiency Uncommon
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Diagnosis : by GH provocation tests
GH Deficiency
* 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
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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
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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
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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
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Outcome & Treatment
• No specific treatment, reassurance FSS, CDGP
• Limb lengthening with limited benefit. Guarded prognosis Skeletal dysplasias
• Specific Treatment – Good Catch-up GrowthChronic systemic disorder
• Levothyroxine – Good ResultHypothyroidism
• Hormone Treatment – Good resultsGH Deficiency
• GnRH agonists,GH, Specific tt @ right time ->good resultsPrecocious Puberty
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Summary
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Jyoti AmgeChandra Bahadur Dangi
Record holding shortest living individuals