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
CSN Vittal
Normal Distribution
99.7%
95.4%
68.3%
CSN Vittal
Percentile A percentile is the percentage of individuals in the group
who achieved a certain
measured quantity or
developmental milestone
CSN Vittal
Common Causes
Chronic PEM : 35%
IUGR (primordial dwarfism) : 10% Chronic diarrhoeal disease : 20% Endocrinopathies :
10% Constitutional :
10% Familial :
10% Genetic / Chromosomal :
5%
CSN Vittal
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
CSN Vittal
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
CSN Vittal
- 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
CSN Vittal
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
CSN Vittal
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
CSN Vittal
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
CSN Vittal
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)
CSN Vittal
Sexual Maturity Rating – Tanner
Pre pubertal
Adult
CSN Vittal
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
CSN Vittal
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
CSN Vittal
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)
CSN Vittal
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
CSN Vittal
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.
CSN Vittal
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
CSN Vittal
Interpretations
• Markedly Delayed bone age –
- - Suggestive of Endocrinopathy
CSN Vittal
1. Familial short stature2. Constitutional Delay in maturation3. Primodrial dwarfism4. Nutritional short stature5. Chronic visceral disease6. Psychosocial short stature7. Endocrinopathies
CSN Vittal
FamilialShort Stature
CSN Vittal
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
CSN Vittal
CSN Vittal
Carpal bones are Normal
• hGH & Gonadotrophins – normal• Sexual maturity - normal• Over feeding may lead to obesity
Genetic ( Familial ) Short Stature
CSN Vittal
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
CSN Vittal
6 year old boyConstitutional Short Stature
CSN Vittal
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)
CSN Vittal
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
CSN Vittal
CSN Vittal
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
CSN Vittal
Primordial Dwarfism
Silver Russel Syndrome: – Short stature– Small triangular facies– Frontal bossing– Scanty subcutaneous fat– Short incurved fifth finger with / without
hypertrophy– LBW, SGA
CSN Vittal
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
CSN Vittal
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
CSN Vittal
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
CSN Vittal
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
CSN Vittal
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
CSN Vittal
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
CSN Vittal
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
CSN Vittal
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
CSN Vittal
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
CSN Vittal
Endocrinopathies
Diabetes mellitus : – H/o polyuria, nocturnal enuresis, polydypsia and
polyphagia– Confirmation – urine and blood sugar
CSN Vittal
CSN Vittal
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
CSN Vittal
Skeletal Disorders
– CHONDRODYSTROPHIES, Achandroplasia Pseudochondrodysplasia Osteogenesis imperfecta Rickets Spondyloepiphyseal dysplasia Caries spine Hemivertebrae
– LYSOSOMAL STORAGE DISEASES Mucopolysaccharidoses Mucolipidoses
CSN Vittal
Short Limbed DwarfismACHONDROLASIA
CSN Vittal
Short Trunk Dwarfism< < MORQUIO SYNDROME
HURLER SYNDROME
CSN Vittal
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.
CSN Vittal
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
CSN Vittal
Growth Hormone Therapy in Short Stature
Dose of hGH
• 0.2 to 0.3 mg / kg / week Subcutaneously
CSN Vittal
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)
CSN Vittal