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