Approach to a child withShort 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 below the mean for age and gender.

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• Consanguinity• Genetic Disorders• Developmental history• School performance• Onset of pubertal changes

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

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

Approach to a Child with Short Stature

With Obesity

• Congenital• Acquired

Without Obesity

• Congenital• Acquired.

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

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

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

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

Sexual Maturity Rating – Tanner

Pre pubertal

Adult

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

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

Dysmorphic

Features

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

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

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

Frolich’s Syndrome

• Boys only• Obesity • Hypogonadism• Retarded growth • Short stature • Malformed fingernails • Headaches

Down Syndrome• Hypotonia• Hypertelorism• Simian crease• High arched palet• Flat nasal bridge• Protruding tongue• Short stature• Multiple system

involvements

Turner Syndrome• Girls only• Cubitus valgus• Coarctation of aorta• Low hairline• Broad chest with

widely placed nipples

• Streak ovaries

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

Achandroplasia

Morquio Syndrome

Short Limbed

Short Trunk

Hurler Syndrome

Evaluation of Proportional Short Stature with

No Dysmorphic Features• Routine

& SpecialsLabs

• Bone age assessmentRadiology

• Growth Velocity / Pattern assessment

Growth Chart

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

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

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

Bones of the Wrist

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

Growth Charts

Ht & Wt Percentile Absolute status

Parental expectation Familial effect

Ht and Wt age Nutritional effect

Now

Let us study some cases

FamilialShort Stature

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

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

A child with constitutional delay in growth and puberty, will reachhis 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 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

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.

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

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

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

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

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

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

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

Remarkable delay in bone age

Hypothyroidism

Endocrinopathies

Hypercortisolism

Diabetes mellitus

GH Deficiency / Unresponse

Uncommon

Hypothyroidism

Endocrinopathies

– Infantile body proportions– Bone age retarded remarkably– Growth velocity < 4 cm / year– Confirmation – Low T4 and

high TSH levels

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

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

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

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

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

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

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

Summary

Jyoti AmgeChandra Bahadur Dangi

Record holding shortest living individuals