Short Stature or Short Height Causes, Investigations and Treatment/Management

Short Stature:
The short height of an individual is recognized by comparing the height of the child with another child from the same population having similar genetic background by using the mid-parental height.

Formula for Calculating Mid Parental Height

For Females:
Target height in cm = mother’s height in cm + (father’s height in cm – 13) / 2
For Males:
Target height in cm = (mother’s height in cm + 13) + (father’s height in cm) / 2
               Short stature may be normal or abnormal. So taking genetic background into account is very crucial to determine the physiological (normal) or pathological (abnormal) nature of short stature. For example, if both the parents have short height then the child will also have a short height and nothing much can be done to increase the height of such an individual.
Moreover, short stature can be a symptom of some chronic or genetic disease and poor nutrition is another essential determinant of short stature in genetically normal individuals.

Causes of Short Stature:

1. Constitutional delay of growth and development including sexual development.
2. Genetically determined short stature (e.g if both the parents have short stature)
3. Chronic diseases, especially in early childhood (e.g cretinism, pituitary tumours of childhood, hypothyroidism, adrenal insufficiency etc.) including the malnutrition.
4. Down Syndrome
5. Ulrich-Turner Syndrome
6. Leri-Weill dyschondrosteosis

Signs and Symptoms:

Questions to be asked while taking history:

1. Obtain the birth records, height at birth, front-o-occipital head circumference etc
2. Measure the height of both parents
3. Age of menarche of mother and age at which father attained his maximum height.
4. Take a history of chronic diseases.

Physical Examination (for doctors and medical students):

1. Measure standing height using wall-mounted stadiometer.
2. Measure arm span in those children who can’t stand
3. Measured Weight
4. Measure fonto-occipital diameter in infants.
5. Do thyroid examination
6. Palpate and inspect 4th metacarpal. 4th metacarpal is shortened in those individuals who have pseudohypoparathyroidism, Ullrich-Turner syndrome, and Albright hereditary osteodystrophy.
7. Do general physical examination and fast systemic examination.

Investigations:

Laboratory studies are done to assess the major causes of short stature.

1. Serum Insulin-Like Growth Factor
2. Karyotype by G banding
3. Serum level of growth hormone
4. Complete blood should be done.
5. Antiendomysial antibodies to rule out celiac disease.
6. Wintrobe sedimentation rate for inflammatory bowel diseases.
7. Sweat chloride test to rule out cystic fibrosis.
8. Serum transferrin and prealbumin for malnutrition or under-nutrition.
9. X-Ray hand and wrist to asses age
10. Renal and cardiac ultrasound to check horseshoe kidney and bicuspid aortic valve respectively. These two anomalies are commonly associated with Ullrich-Turner syndrome.
11. Special tests to assess growth hormone deficiencies.

Treatment of Short Stature/Short Height:

Treatment of the short stature depends on the cause.
For example, if hypothyroidism is the cause, its treatment in oral thyroxine. Adrenal insufficiency is treated by steroids. Hormonal deficiency is treated by exogenous hormones and so on. Human recombinant growth hormone is also being used to treat short stature but it hasn’t shown any significant benefits.
Brain tumours that cause hyposomatotropism are treated with the help of surgery.  
A proper and balanced diet should be used as a poor diet is a leading cause of short stature in developing countries.