whom and how to evaluate for short stature

Whom to screen for short stature?

Height less than the 3rd percentile or – 2 SD below the mean height for that age and sex according to population standard.

Height should fall behind 2 major percentiles of the growth chart on serial height records, even when the present height is within normal percentiles.

Children with height velocity less than the 25th percentile over a period of 6 to 12 months.

The projected adult height percentile drawn parallel to the 3rd percentile falls short of MPH by >8 cm.

Level 1 investigation for short stature:

Investigations      Disease being screened

CBC, peripheral smear,                   Chronic anemia,  chronic infection,  

 ESR                                                 inflammation

Creatinine                                        Chronic renal failure

LFT                                                  Chronic liver disease

Rickets’s profile                                   Rickets, 

Calcium, phosphorus,                         pseudohypoparathyroidism

Alk. phosphatase

Routine and microscopy Urine           Chronic pyelonephritis 

Routine and microscopy Stool           Giardiasis 

Ova, cysts  

Thyroid profile                                   Hypothyroidism              

RBS                                                   Diabetes mellitus

ABG                                                 Renal tubular acidosis

Bicarbonate / pH

X-ray hands and wrist)                      Bone age

X-ray skull                                         Suprasellar calcification 

                                                         (craniopharyngioma)   

Bone age is read using Greulich-Pyle’s atlas or Tanner  Whitehouse’s method

*Skeletal survey may be needed for children with suspected   skeletal dysplasias

Level 2 investigation:

Coeliac Serology  

Karyotyping – to rule out Turner syndrome. A must for all girls presenting with short stature. 

IGF-1 levels (for children more than 3 years of age) values less than 3rd percentile for age and gender is low and may indicate growth hormone deficiency.

IGFBP-3 levels (for children less than 3 years of age)- values less than 3rd percentile for age and gender are low.

Level 3 investigation:

Growth hormone stimulation test and MRI brain for pituitary and sella morphology

MRI brain and pituitary -to look for space-occupying lesions, congenital anomalies/ CNS malformation for pituitary- volume, height, stalk – thickening/thin/ abrupted, position of posterior pituitary, sella normal/ empty