SHORT STATURE
Dr Sandip Gupta
PGT,PEDIATRICS
B.S.M.C.H.
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
Apprximately 3% children in any population will be short .
Half of them normal variants(familial or constitutional short stature).
Definition:
Essential Pediatrics, 7th Edition, OP Ghai
Normal height pattern• Birth length 50cm
• One year 75 cm
• Two yrs 87.5 cm
• Three yrs 93.75 cm4 yrs 100 cm velocity
• 8 yrs 125 cm 6 cm
• 12 yrs 150 cm per year
Factors affecting growth
• Birthsize
• Nutrition
• General well being
• Psycosocial factors
• Endocrinal factors
A) Proportionate Short Stature
1) Normal Variants:
i) Familial short stature
ii) Constitutional Delay of Growth & puberty
2) Prenatal Causes:
i) Intra-uterine Growth Restriction-
Placental causes, Infections, Teratogens
ii) Intra-uterine Infections
iii) Genetic Disorders (Chromosomal
& Metabolic Disorders)
Causes Of Short Stature:
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, MetaphysealChondrodysplasia
- Deformities due to Osteogenesis Imperfecta,Refractory Rickets
2) With Short Trunk:- Spondyloepiphyseal dysplasia,
Mucolipidosis, Mucopolysaccharidosis- Caries Spine, Hemivertebrae
History
Birth history
Maternal illness or use of certain drugs
Birth weight & height
Unexplained hypoglycemia, prolonged jaundice,or microphallus are suggestive of Congenital GH deficiency
Growth pattern: a child who is short but growing at a normal rate & parallel to the 5th centile curve is more likely to have familial or constitutional short stature.
A child who progressively deviates away from normal curve (specially after 24 months) is likely tobe suffering from underlying medical disorder.
Developmental history
• Dietary history & apetite
• History of:
• Abdominal pain, diarrhea, mouth ulcer, joint pain ,wt loss-IBD
• Goitre, constipation, cold intolerance, wt gain,lethargy-hypothyroidism
• Headache ,vomiting ,visual disturbances raise suspicion of acquired hypopitutarism due to tumour or hydrocephalus.
• Polyuria ,oliguria,hematuria –CRF
• Recurrent LRTI,otitis media, malabsorbtion- cystic fibrosis
• Pubertal development-delay occurs in constitutional delay,hypogonadism ,hypoitutarism,hypothyroidism
• Emotional deprivation- psychosocial dwarfism
• Steatorrhea , diarrhea –malabsorbtion
• Drug history
• Family history
Accurate height measurement& height velocity
• Below 2 yrs- supine length with
infantometer
• For older children- Stadiometer
Assessment of a child with short
stature
Assessment of body proportionUpper segment: Lower segment ratio
Increase: rickets, achondroplasia, untreated hypothyroidismDecrease: spondyloepiphyseal
dysplasia, vertebral anomalies
Arm span:
Short:skeletal dysplasia
Long:marfan syndrome
Weight
Increased wt/ht :endocrinal
Decreased or normal wt/ht: chronic systemic illness
Comparison with population norms
Height plotted on appropriate growth charts &
expressed as centile or SD score
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
Sexual maturity rating ( SMR):
Also known as Tanners stages
Used in older children
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
Pointers to etiology of short stature
Examination finding Etiology
Disproportion Skeletal dysplasia, rickets, hypothyroidism
Dysmorphism Congenital syndromes
Hypertension CRF
Goitre, coarse skin Hypothyroidism
Central obesity, striae Cushing syndrome
Clues to etiology from examination
Males:
SMR Pubic Hair
• Stage 1 Preadolescent
• Stage 2 Scanty, long, slightly pigmented, primarily at
base of penis
• Stage 3 Darker, coarser, starts to curl, small amount
• Stage 4 Coarse, curly; resembles adult type but covers
smaller area
• Stage 5 Adult quantity and distribution, spread to medial surface of thighs
• SMR Genitals
Penis Testes
• Stage 1 Preadolescent Preadolescent
• Stage 2 Slight or no Beginning enlargement
enlargement of testes and scrotum; scrotal
skin reddened, texture altered
• Stage 3 Longer Further enlargement of
testis and scrotum
• Stage 4 Larger in breadth, Testes & scrotum nearly
glans penis develops adult
• Stage 5 Adult Adult
SMR Females
SMR Pubic Hair
• Stage 1 Preadolescent
• Stage 2 Sparse, slightly pigmented, straight, at medial border of labia
• Stage 3 Darker, beginning to curl, increased amount
• Stage 4 Coarse, curly, abundant, but amount less than in adult
• Stage 5 Adult feminine triangle, spread to medial surface of thighs
SMR Breasts
• Stage 1 Preadolescent; elevation of papilla only
• Stage 2 Breast and papilla elevated as small mound;
areola diameter increased
• Stage 3 Breast and areola enlarged with no separation of their contours
• Stage 4 Projection of areola and papilla to form
secondary mound above the level of the breast
• Stage 5 Mature; projection of papilla only, areola has
recessed to the general contour of the breast
Level 1 ( essential investigations):
• Complete hemogram with ESR
• BONE AGE
• Urinalysis ( Microscopy, pH, Osmolality)
• Stool ( parasites, steatorrhea, occult blood)
• Blood ( RFT, Calcium, Phosphate, alkaline phosphatase, venous gas, fasting sugar, albumin, transaminases)
Investigation:
Investigation
Level 2:
• Serum thyroxine, TSH
• Karyotype to rule out Turner syndrome in girls
If above investigations are normal and height between -2 to -3 SDObserve height velocity for 6-12 months
If height < 3SD level 3 investigations
Level 3:
Celiac serology ( anti- endomysial or anti- tissue transglutaminase antibodies)
Duodenal biopsy
GH stimulation test with Clonidine or insulin & serum insulin like GF-1 levels
• Counselling of parents
( for physiological causes)
• Dietary advice
( Undernutrition, Celiac disease,)
• Limb lengthening procedures
( skeletal dysplasias )
• Levothyroxine ( In Hypothyroidism)
• GH s/c injections ( GH deficiency, Turner syndrome, prader-willi syndrome, SGA, CRF prior to transplant)
Management
FAMILIAL SHORT STATURE CONSTITUTIONAL DELAY
M=F
Normal
Short stature
Short
Normal
Normal
BA=CA
Short
M>F
Normal but falls below 5th
centile 1st 3yrs
Delayed puberty
Average
Normal
Delayed
BA<CA
Normal
•SEX
•Length at birth
•Family history
•Parents stature
•Height velocity
•Puberty
• Bone age
•Final height
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