Short Stature

- CSN Vittal

Definition

Height (length) below 3rd percentile or

< 2 SD of mean for age.

95% of normal children lie between these limits

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Normal Distribution

99.7%

95.4%

68.3%

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Percentile A percentile is the percentage of individuals in the group

who achieved a certain

measured quantity or

developmental milestone

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Common Causes

Chronic PEM : 35%

IUGR (primordial dwarfism) : 10% Chronic diarrhoeal disease : 20% Endocrinopathies :

10% Constitutional :

10% Familial :

10% Genetic / Chromosomal :

5%

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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

Shrot Trunk• Spondylo-epiphyseal

dysplasia• MPS• Mucolipidoses• Caries spine• hemivertebrae

Disproportionate

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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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- C.S.N.VittalUpper Segment – Lower Segment

AchandroplasiaHypopitutrism Morquio Syndrome

Proportionate Dwarfism Disroportionate Dwarfism

Short Limbed Short Trunk

Approach to a case of Short-stature Child

• History• Observation• Measurement• Maneuver• Systemic relevant examination

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Detailed History• Birth wt, length• Gest. age, preterm, SGA, Twins• Past medical and surgical history• Developmental history• Family and social history• Nutritional history• Chronic diarrhoea• Recurrent ailments• Nature of the parents / siblings /

grandparents• Antenatal history (maternal disease,

Infection, substance abuse)• Secondary sexual characters• Symptoms of malabsorption

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General Physical Examination• Anthropometry : Height / Length, Segments• Presence or absence of obesity• Presence or absence of dysmorphic features• Signs of raised ICT• Pallor, cyanosis, clubbing, icterus, edema, LNs• Genitalia – SMR for adolescents

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Height VelocityA growth velocity of < 4 cm per year between 5

yrs and adolescence is pathological0 – 6 mo : 15 cm6 – 12 mo : 7 cm1 – 2 yrs : 10 cm2 – 5 yrs : 5 cm / yearPuberty : Boys 10 cm / yr

Girls 8 Cm / yr

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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)

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Sexual Maturity Rating – Tanner

Pre pubertal

Adult

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5 Endocrinal Causes 1. Hypothyroid

2. Hypopituitarism

3. Growth Hormone Deficiency

4. Cushing’s Syndrome

5. Pseudohypopituitarism

5 Syndromal Causes

6. Prader-Willi syndrome

7. Laurence-Moon-Biedl syndrome

8. Alstrom syndrome

9. Down’s syndrome

10. Frolich’s syndrome

Short Stature with Obesity

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Prader-Willi Syndrome• Prader-Willi Syndrome has an

insatiable appetite caused by a defect in the hypothalamus that causes the person to never actually feel full. This can lead to – obesity, – stealing, and – eating pet foods and items that are

spoiled. • There may be sleep disorders and

abnormalities, • boughts of rage, • a higher threshold for pain,• compulsive behaviors such as picking

at the skin, and even • psychoses.• Defect on Chromosome 15

Laurence-Moon-Bardet-Biedl syndrome

• Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is an autosomal recessive genetic disorder characterized by – obesity, – retinal degeneration, – extra digits on the hands and feet, and – intellectual impairment.

• gene responsible for LMBBS was located on chromosome 16

Alström Syndrome • Photophobia • Nystagmus. • Dilated cardiomyopathy and

congestive heart failure in infants under 1 year of age.

• Obesity. Later, • blindness, • hearing impairment, • type 2 diabetes, • heart failure, • liver disease, • urological dysfunction, • pulmonary fibrosis, and • renal failure.

Frolich’s Syndrome

• Obesity • Delayed puberty • Retarded growth • Short stature • Malformed

fingernails • Small fingernails • Headaches • Small testes

SYSTEMS EVALUATION

Respiratory System - chest deformities - signs of chronic lung

disease e.g. cystic fibrosis, asthma

Cardiovascular System - signs of congenital heart

disease - hypertension - signs of cardiac failure

Abdomen - hepatomegaly - splenomegaly - masses - ascitesRenal - urine output

CNS

- visual acuity and visual fields

- nystagmus

- signs of hydrocephalus

- focal signs

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Special Investigation

Buccal smear Thyroid function tests Somatomedin measurement Hormonal levels (T3, T4, TSH) Urinary iodine levels Karyotyping Malabsorption studies Renal acidification studies Urinary aminoacidogram Imaging (US, CT scan)

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Lab. Investigations

Random GH levels: of little value IGF I ( Somatomedin C):

– levels well correlate with GH status– However it can be low in other conditions like

malnutrition, liver disease IGFBP – 3:

– Major binding protein for IGF-I in serum– Also regulated by GH– Levels generally indicate GH status and less

affected by nutritional factors than IGF-I

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Bone age, Chronological age & Height age

• Bone age - Bone age is an indicator of skeletal maturation. A child with delayed bone age has a better prognosis for future height gain than those with appropriate or advanced bone age.

• Chronological age – Actual age of the child.

• Height age - This the age at which the child should have reached his or her height.

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Bone Age 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 year from then

on wards)

Ossification at 3 yrs : Metacarpal and phalyngeal 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

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Interpretations

• Markedly Delayed bone age –

- - Suggestive of Endocrinopathy

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1. Familial short stature2. Constitutional Delay in maturation3. Primodrial dwarfism4. Nutritional short stature5. Chronic visceral disease6. Psychosocial short stature7. Endocrinopathies

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FamilialShort Stature

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Genetic ( Familial ) Short Stature

Leading cause universally Runs as family trait Bone age is consistent with chronological age Growth occurs at genetic potential Child attains height that is consistent with the

midparental height Children are born to short parents, short at birth,

remain short at all times but attain puberty at expected normal period.

1. Familial short stature2. Constitutional Delay in maturation3. Primodrial dwarfism4. Nutritional short stature5. Chronic visceral disease6. Psychosocial short stature7. Endocrinopathies

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Carpal bones are Normal

• hGH & Gonadotrophins – normal• Sexual maturity - normal• Over feeding may lead to obesity

Genetic ( Familial ) 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 Frequently, one or both parents or close family members have h/o.

short stature

1. Familial short stature

2. Constitutional Delay in maturation3. Primodrial dwarfism4. Nutritional short stature5. Chronic visceral disease6. Psychosocial short stature7. Endocrinopathies

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6 year old boyConstitutional Short Stature

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Constitutional Short Stature BONE AGE

Delayed bone age (> 2 SD below

mean) that correlates with child’s height

(age on growth chart at which child’s height would be at the 50th percentile)

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Constitutional Short Stature MANAGEMENT

Regular check ups once in 3 – 6 months for accurate height measurements and determination of growth rate

Bone age – once in a year to assess In children who are mid to late pubertal ages

(girls, > 13 years, boys, > 14 years) but showing no or minimal signs of puberty, selective use of estrogen or testosterone supplementation to initiate puberty, or additional assessment may be indicated

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Primordial Dwarfism

IUGR is responsible Reduction in no. of cells Growth potential post partum is diminished Bone age is normal Prognosis for adult height is poor

1. Familial short stature2. Constitutional Delay in maturation

3. Primodrial dwarfism4. Nutritional short stature5. Chronic visceral disease6. Psychosocial short stature7. Endocrinopathies

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Primordial Dwarfism

Silver Russel Syndrome: – Short stature– Small triangular facies– Frontal bossing– Scanty subcutaneous fat– Short incurved fifth finger with / without

hypertrophy– LBW, SGA

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Nutritional Dwarfism

Chronic malnutritionBone age is less than chronological

ageCatch-up growth, though incomplete

is expected once nutritional rehabilitation is satisfactorily achieved

1. Familial short stature2. Constitutional Delay in maturation3. Primodrial dwarfism

4. Nutritional short stature5. Chronic visceral disease6. Psychosocial short stature7. Endocrinopathies

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Chronic Visceral Disease

Malabsorption syndrome: Chr. Rec. infective diarrhoea, cystic fibrosis, lactose intolerance, celiac disease, giardiasis, CMPA, abetalipoproteinemia

CHD Renal failure DM, DI, IEM Hematological disease : Thalassemia, SCD

Chronic infections : TB, malaria, empyema, chronic pyelonephritis, syphilis

Miscellaneous: Bronchial asthma, cirrhosis of liver, aquired heart disease, nephrotic syndrome

1. Familial short stature2. Constitutional Delay in maturation3. Primodrial dwarfism4. Nutritional short stature

5. Chronic visceral disease6. Psychosocial short stature7. Endocrinopathies

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Psychosocial Short Stature

1. Familial short stature2. Constitutional Delay in maturation3. Primodrial dwarfism4. Nutritional short stature5. Chronic visceral disease

6. Psychosocial short stature7. Endocrinopathies

Psychosocial Dwarfism, Deprivation dwarfism , Reversible Hyposomatotropism

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Perverted appetite, enuresis, encopresis, insomnia, crying spasms, sudden tantrums

May be passive or aggressive Through functional hypopituitarism Bone age is a little delayed or normal Body proportions normal Slow catch-up growth following availability of

emotional warmth

Psychosocial Short Stature

1. Familial short stature2. Constitutional Delay in maturation3. Primodrial dwarfism4. Nutritional short stature5. Chronic visceral disease

6. Psychosocial short stature7. Endocrinopathies

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Type I Type II Type III Seen in infants below 2 years FTT present No bizarre behaviour GH Normal No h/o. parental rejection

Seen in children older than 3 years Bbizarre behaviour Decreased GH H/o. parental rejection Often depressed

Onset in infancy or older. FTT is not present, and bizarre behavior is not usually observed. GH secretion is normal; responsiveness to GH is significant. No history of parental rejection

Endocrinopathies

Remarkable delay in bone age GH Deficiency : Uncommon

– Infantile appearance– Bone age delay– Growth velocity < 4 cm / year– Confirmation by GH levels after provocative

stimulation (exercise, insulin, propronalol, arginine, L-Dopa)

1. Familial short stature2. Constitutional Delay in maturation3. Primodrial dwarfism4. Nutritional short stature5. Chronic visceral disease6. Psychosocial short stature

7. Endocrinopathies

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Endocrinopathies

GH Deficiency :1. Congenital malformations of hypothalamus and

pituitary2. Genetically determined disturbances3. Tumours4. Chronic inflammation5. Idiopathic6. Following radiotherapy and chemotherapy for

neoplastic disease7. May be as a part of panhypopituitarism

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Endocrinopathies

GH Deficiency :Single sample after 20 min. vigorous exercise (e.g. climbing

stairs):if > 10 ng/ml, no deficiency.If < 10 ng/ml, do stimulation test:

Using (i) clonidine ( 4 ug/kg or 150 ug/m2) or (ii) Levodopa (125 mg., 250 mg. & 500 mg. at <10 kg., 10-20 kg., and>20 kg. respectively) + propanalol (0.75 mg./kg.):

– sampling at 0, 30, 60, 90, 120 min: – all samples to be tested separately. – If ANY level > 10 ng/ml, no deficiency. If all levels < 10 ng/ml,

refer to pediatric endocrinologist for GH treatment.

Single, basal sample is USELESS

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Endocrinopathies

Remarkable delay in bone age

Hypothyroidism : – Infantile body proportions– Bone age retarded remarkably– Growth velocity < 4 cm / year– Confirmation – Low T4 and high TSH levels

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Endocrinopathies

Remarkable delay in bone age

Cushing Syndrome : – From exogenous steroid therapy or– Sec. to pituitary or adrenal tumor– Overweight, growth retardation, short stature,

delayed epiphyseal maturation– Moon facies, abdominal striae, plethora,

hypertension, reduced glucose tolerance

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Endocrinopathies

Diabetes mellitus : – H/o polyuria, nocturnal enuresis, polydypsia and

polyphagia– Confirmation – urine and blood sugar

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Recap

Chr. Age > Ht. Age > Bone Age Hypothyroid, GH Deficiency

Chr. Age > (Ht. Age = Bone Age) Constitutional Delay in Growth

(Bone Age = Chr. Age) > Ht. Age Familial Short Stature

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Skeletal Disorders

– CHONDRODYSTROPHIES, Achandroplasia Pseudochondrodysplasia Osteogenesis imperfecta Rickets Spondyloepiphyseal dysplasia Caries spine Hemivertebrae

– LYSOSOMAL STORAGE DISEASES Mucopolysaccharidoses Mucolipidoses

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Short Limbed DwarfismACHONDROLASIA

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Short Trunk Dwarfism< < MORQUIO SYNDROME

HURLER SYNDROME

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Outcome & Treatment

Depends upon the cause• Familial genetic short stature, Constitutional delay in

growth (CDGP) and most causes of intrauterine growth retardation

– no specific treatment, reassurance • Skeletal dysplasias

– Limb lengthening with limited benefit. • Specific therapy

– for chronic systemic disorder is associated good catch up• Growth hormone

– in children with growth hormone deficiency• Sodium Levo thyroxine

– Hypothyroidism should be managed with replacement by.

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Treatment of Short Stature • General :

– Treat malnutrition– De-worming– Psychological Counseling

• Specific:– GH– Thyroid hormone– IGF -1 Therapy

• In Laron Syndrome (resistance to GH)

0.05 – 0.10 mg/ kg / d SC with meals

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Growth Hormone Therapy in Short Stature

Dose of hGH

• 0.2 to 0.3 mg / kg / week Subcutaneously

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Growth Hormone Therapy - Other Indications

• Turner’s syndrome – growth hormone with oxandrolone can be used

• Chronic kidney disease • Prader–Willi syndrome • Small for gestational age• ? Russell – Silver syndrome• ? Idiopathic short stature (non-GH-deficient short stature)

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