Height below 3rd centile or less than 2 standard deviations below the median height for that age & sex according to the population standard OR

Even if the height is within the normal percentiles but growth velocity is consistently below 25th percentile over 6-12 months of observation

The term ‘Dwarfism’ is no longer used for short stature

Essential Pediatrics, 7th Edition, OP Ghai; Fima Lifschitz- Pediatric Endocrinology

Approximately 3% children in any population will be short

Approximately half will be physiological ( familial or constitutional ) & half will be pathological short stature

A) Proportionate Short Stature 1) Normal Variants: i) Familial ii) Constitutional Growth Delay 2) Prenatal Causes: i) Intra-uterine Growth Restriction- Placental causes, Infections,

Teratogens ii) Intra-uterine Infections iii) Genetic Disorders (Chromosomal & Metabolic Disorders)

3) Postnatal Causes: i) Undernutrition ii) Chronic Systemic Illness - Cardiopulmonary: CHD, Chronic

Asthma, Cystic Fibrosis - Renal: RTA, CRF, Steroid dependent Nephrotic Syndrome - GI and Hepatic: Malabsorption, IBD,

chronic liver disease - Chronic Severe Infections - Hematological : Thalassemia, Sickle cell anemia

iii) Psychosocial Short Stature (emotional deprivation)

iv) Endocrine Causes: - Growth Hormone Deficiency/ insensitivity - Hypothyroidism - Juvenile Diabetes Mellitus - Cushing Syndrome - Pseudohypoparathyroidism - Precocious/ delayed puberty

B) Disproportionate Short Stature 1) With Short Limbs: - Achondroplasia, Hypochondroplasia, Chondrodysplasia punctata, Chondroectodermal Dysplasia, Diastrophic dysplasia, Metaphyseal Chondrodysplasia - Deformities due to Osteogenesis Imperfecta, Refractory Rickets

2) With Short Trunk: - Spondyloepiphyseal dysplasia, Mucolipidosis, Mucopolysaccharidosis - Caries Spine, Hemivertebrae

Feature Familial Short Stature Constitutional Short Stature

1) Sex Both equally affected More common in boys

2) Length at Birth Normal Normal (starts falling <5th centile in 1st 3yrs of life)

3) Family History Of short stature Of delayed puberty

4) Parents Stature Short (one or both) Average

5) Height Velocity Normal Normal

6) Puberty Normal Delayed

7) Bone Age & Chronological Age

BA = CA > Height Age CA > BA = Height Age

8) Final Height Short, but normal for targetheight

Normal

Arrest of fetal growth in early embryonic life causes reduction in total number of cells, leading to diminished growth potential in postnatal life

BW <10th centile for gestational ageMost of these babies show catch-up growth by 2yrs

of age, but 20-30% may remain shortSubtle defects in the GH-IGF axis are considered to

be responsibleGrowth Velocity is normal • BA = CA • Learning disabilities could be present

A) Chromosomal Disorders - Turner syndrome ( XO) : an incidence of 1 in 2000 live births - should be ruled out even if typical phenotypic features are absent - Other e.g.: Down, Noonan, Prader-Willi, Silver- Russel, Seckle syndromeB) Inborn Errors of Metabolism -eg. Galactosemia, Aminoaciduria

One of the commonest cause of short stature in India

Protein Energy Malnutrition, anemia and trace element deficiency such as Zinc def are common causes

Weight gain is slow and muscles are wasted. Long standing malnutrition leads to Stunting

BA < CADiagnosis: good dietary history, anthropometric

measurements

1) Chronic Infections -eg:TB, Malaria, Leishmaniasis, Chr.

pyelonephiritis - Growth retardation is due to impaired appetite, decreased food intake, increased catabolism, poor utilization of food, vomiting & diarrhoea2) Malabsorbtion Syndromes - eg: chronic recurrent infective diarrhoea,

lactose intolerance, cystic fibrosis, celiac disease, giardiasis, cow’s milk allergy, abeta lipoproteinemia

3) Birth defects: CHD, urinary tract & nervous system

anomalies

4) Miscellaneous: Cirrhosis of liver, bronchiectasis, acquired heart diseases, cardiomyopathies, SDH

1) Human growth hormone deficiency - Normal length & weight at birth - Growth delay seen >1yr of age, growth velocity < 4cm/year - BA < CA by at least 2 yrs - Infantile gonadal devlopment, - Delay in SSC - Normal intelligence - Diagnosis: hGH levels in sleep & after

provocation with clonidine, insulin, propranolol - hGH>10ng/ml excludes hGH deficiency

2) Laron’s Syndrome - Metabolic disorder, AR inheritence - Clinically resembles hGH deficiency, but blood hGH levels are high - Somatomedin levels are low

3) Type 1 Diabetes Mellitus - significant growth retardation - insulin has chondrotropic effect

4) Hypothyroidism - Short, stocky child; dull looking, puffy face - Thickened skin & subcutaneous tissue with myxematous appearance, cold intolerance - Protuberant abdomen with umbilical hernia - Infantile sexual development & delayed puberty - Bone age markedly delayed - Diagnosis- Low T4 levels, high TSH levels

5) Cushing syndrome: Growth retardation ( early feature) Other features: Obesity, plethoric moon facies, abdominal striae, hypertension, decreased glucose tolerance 6) Gonadal disorders: - Adiposogenital dystrophy ( Frohlich syndrome) moderate growth retardation, bone age normal or slightly delayed - Precocious puberty: early fusion of epiphyseal centres

Aka: emotional deprivation dwarfism, maternal deprivation dwarfism, hyperphagic short stature

Functional hypopituitarism- low IGF-1 levels & inadequate response to GH stimulation

Type1- below 2 yrs, failure to thrive, no Gh deficiency

Type2- in > 3 yrsOther behavioural disorders: enuresis, encorpresis,

sleep & appetite disturbances, crying spasms, tantrums

Dental eruptions & sexual development delayed

Aka chondrodysplasiasInborn error in formation of components of skeletal system causing disturbance of cartilage & bone Abnormal skeletal proportions & severe short statureDiagnosis- family history, measurement of body proportions, examination of limbs & skulls,

skeletal survey

1) Accurate height measurementBelow 2 yrs- supine length with infantometerFor older children- Stadiometer

2) Assessment of body proportion Upper segment: Lower segment ratio Increase: rickets, achondroplasia, untreated hypothyroidism Decrease: spondyloepiphyseal dysplasia, vertebral anomalies

Comparison of arm span with height

3) Assessment of height velocity Rate of increase in height over a period of time, expressed as cm/year If low – pathological cause of short stature

4) Comparison with population norms Height plotted on appropriate growth charts & expressed as centile or SD score

5) Comparison with child’s own genetic potential

Mid parental height for boys = mother's height + father's height /2 + 6.5cm Mid parental height for girls = mother's height + father's height /2 – 6.5cm 6) Sexual maturity rating ( SMR):Also known as Tanners stagesUsed in older childrenTotal 5 stages included in each gender

Males: SMR Pubic HairStage 1 PreadolescentStage 2 Scanty, long, slightly pigmented,

primarily at base of penisStage 3 Darker, coarser, starts to curl, small

amountStage 4 Coarse, curly; resembles adult type but

covers smaller areaStage 5 Adult quantity and distribution, spread

to medial surface of thighs

SMR          Genitals Penis

TestesStage 1 Preadolescent PreadolescentStage 2 Slight or no Beginning enlargement enlargement of testes and scrotum;

scrotal skin reddened, texture

alteredStage 3 Longer Further enlargement of testis and scrotumStage 4 Larger in breadth, Testes & scrotum nearly

glans penis develops adult Stage 5 Adult Adult

SMR Females SMR Pubic HairStage 1 PreadolescentStage 2 Sparse, slightly pigmented, straight, at

medial border of labiaStage 3 Darker, beginning to curl, increased

amountStage 4 Coarse, curly, abundant, but amount

less than in adultStage 5 Adult feminine triangle, spread to

medial surface of thighs

SMR BreastsStage 1 Preadolescent; elevation of papilla onlyStage 2 Breast and papilla elevated as small

mound; areola diameter increasedStage 3 Breast and areola enlarged with no

separation of their contoursStage 4 Projection of areola and papilla to form secondary mound above the level of the

breastStage 5 Mature; projection of papilla only, areola

has recessed to the general contour of the

breast

Tanner JM. 1962. Growth at Adolescence (2nd ed.). Oxford, England: Blackwell Scientific Publications.

Detailed historyCareful examinationLaboratory evaluation

History Etiology

History of delay of puberty in parents Constitutional delay of growth

Low Birth Weight SGA

Neonatal hypoglycemia, jaundice, micropenis GH deficiency

Dietary intake Under nutrition

Headache, vomiting, visual problem Pituitary/ hypothalamic SOL

Lethargy, constipation, weight gain Hypothyroidism

Polyuria CRF, RTA

Social history Psychosocial dwarfism

Diarrhea, greasy stools Malabsorption

Pointer Etiology

Midline defects, micropenis, Frontal bossing, depressed nasal bridge, crowded teeth,

GH deficiency

Rickets Renal failure, RTA, malabsorption

Pallor Renal failure, malabsorption, nutritional anemia

Malnutrition PEM, malabsorption, celiac disease, cystic fibrosis

Obesity Hypothyroidism, Cushing syndrome, Prader Willi syndrome

Metacarpal shortening Turner syndrome, pseudohypoparathyroidism

Cardiac murmur Congenital heart disease, Turner syndrome

Mental retardation Hypothyroidism, Down/ Turner syndrome, pseudohypoparathyroidism

Examination finding Etiology

Disproportion Skeletal dysplasia, rickets, hypothyroidism

Dysmorphism Congenital syndromes

Hypertension CRF

Goitre, coarse skin Hypothyroidism

Central obesity, striae Cushing syndrome

Level 1 ( essential investigations):

Complete hemogram with ESRBONE AGEUrinalysis ( Microscopy, pH, Osmolality)Stool ( parasites, steatorrhea, occult blood)Blood ( RFT, Calcium, Phosphate, alkaline

phosphatase, venous gas, fasting sugar, albumin, transaminases)

Bone age assessment should be done in all children with short statureAppearance of various epiphyseal centers & fusion of epiphyses with metaphyses tells about the skeletal maturity of the childConventionally read from Xray of hand & wrist using Gruelich-Pyle atlas or Tanner- Whitehouse method

Bone age gives an idea as to what proportion of adult height has been achieved by the child & what is remaining potential for height gain

BA is delayed compared to chronological age in almost all causes of short stature

Exceptions: Familial short stature, Precocious puberty

Level 2:Serum thyroxine, TSHKaryotype to rule out Turner syndrome in girls If above investigations are normal and height

between -2 to -3 SD Observe height velocity for 6-12 months

If height < 3SD level 3 investigations

Level 3:Celiac serology ( anti- endomysial or anti- tissue

transglutaminase antibodies) Duodenal biopsyGH stimulation test with Clonidine or insulin &

serum insulin like GF-1 levels

Counselling of parents ( for physiological causes)Dietary advice ( Undernutrition, Celiac disease, RTA )Limb lengthening procedures ( skeletal dysplasias )Levothyroxine ( In Hypothyroidism)GH s/c injections ( GH deficiency, Turner

syndrome, SGA, CRF prior to transplant)

Monitoring with regular & accurate recording of height is mandatory for a good outcome in any form of therapy

Genghis Khan

Voltaire Pablo Picasso