THE CHILD WITH SHORT
STATURE
Deflation
Short stature is defined as length/height
- Below
3rd percentile for age or
- Below
more than 2 standard deviation (SD) of mean forage
In addition, the height velocity is usually < 25th
percentile for age.
Etiology
Short stature is a common pediatric problem. Most
enlightened parents are keen to know if their child, who had not been keeping
pace with the healthy peers of his age, “ is leading for dwarfism.” Obviously,
the doctor must evaluate the child fully, bearing in mind that a large number
of etiologic factors cal lead to short stature.
Short stature may be primary or secondary. Primary short
stature is usually due to an intrinsic defect in the skeletal system as a
result of some genetic or prenatal damage (say, IUGR). Here, potential for
normal bone growth is impaired through skeletal age is unaffected. Main affect
is on diaphyseal growth.
Secondary short stature is characterized by impairment of
bone age and height to the same extent. Here, the potential for reaching the
adult height is subject to availability of proper treatment.
Diagnostic approach
Evaluation should be based on a good history and physical
examination, routine investigation, bone age and study of growth rate. Hormonal
studies and Karyotyping are needed in selected cases.
In anthropometry, height velocity is more useful than a
single recording of the height. It is calculated from at least two accurate
readings at a gap of 6 months (preferably one year). A velocity of less than 4
cm per year between 5 years of age and adolescence is considered pathologic.
For younger children, it varies with age: 15 cm for 0 to 6 months, 7 cm for 6
to 12 months, 10 cm for 1 to 2 years, and 5 cm for 2 to 5 years.
Body proportion are considered to be most accurate index of
height. Upper segment/lower segment ratio is increased in hypothyroidism and
short-statured dwarfism(achondroplasia).
Measurement from midfinger tip to midfinger tip (span)is
case of fully outstretched arms and hands is increased(more than height) in
spondyleopiphyseal dysplasia (Morquio disease)
Measuring parent’s
height is of value. The so called midparental height, a genetic
component, gives the subject’s target height. It is determined as mean of
father and mother’s heights plus 13 in case of boys and minus 13 in case of
girls.
If weight is less proportionally reduced than height,
nutritional deprivation must be seriously considered. On the contrary, if
weight is nearly normal but height is significantly less, hypothyroidism must
be seriously considered. Growth hormone deficiency and hypercorticism is also
figure in the differential diagnosis.
Children with delayed puberty and short stature should
arouse suspicion of sex chromosomal anomalies such as Turner syndrome. Here
stature, despite timely onset of puberty, is likely to end up with short
stature. In “late maturers”, both short stature and delayed puberty coexist.
These latematures ultimately attain better height compared to early maturers.
Bone age, assessed through radiologic examination of certain
bones and then comparing the appearance and fusion of epiphyseal centers with
standard normal radiographs for different ages, is of considerable value. In
infancy, knee, wrist and hand and in later yars elbow, wrist and hand are
appropriate sites.
With the availability of assessment mentioned so far, the
following guidelines are suggested.
- If
height age falls within 2 years of the chronologic age, the subject need
not be considered to have short stature.
- If
height is less than the chronologic age and the bone age equal to height
age, slow growth – in other words constitutional delay- is the likely
cause of short stature. In this situation, the child may well to attain
his normal height subsequently.
- If the
height age is less than the chronologic age and the bone age equal to chronologic
age, genetic short stature is the diagnosis. Such a child has short
parents and is likely to remain short.
- If
bone age is less than chronologic age, one should consider constitutional
growth retardation, hypothyroidism, malnutrition, growth hormone
deficiency and chronic systemic disease as the cause of short stature.
Besides radiology and routine investigations, including meticulous stool
examination on at least 3 successive days, it should be ascertained if there
is need for intensive workup. The indications for such a workup include
-
Height over 2SD less than the mean for that age
-
Growth (height) velocity less than 4 cm per year.
-
Growth centile showing subnormality in relation to
family stature (midparental height)
- Inappropriate
bone age compared to height age and actual (chronologic) age
-
Existence of characteristic features of an endocrinal
cause or a syndromal
State
Specific
investigations include:
- Buccal
smears
- Thyroid
function tests
- Somatomedin-C
measurement
- Cortisol,
LH, FSH, PRL, testosterone, estrogen levels
- Urinary
iodine levels
- Complete
Karyotyping
- Malabsorption
studies
- Renal
acidification test
- Urinary
aminoacidogram
- Imaging
studies like ultrasound, CT scan (pituitary, adrenals, pelvic organs).
Management
Even if no treatable cause is found , the situation should
be explained to the parents. Only established indication for growth hormone
therapy is growth hormone responsiveness in case of:
- Biochemical
GH deficiency supported by stimulation tests, after thyroid function has
been shown to be normal, plus slow growth velocity, and
- Slow
growth velocity in idiopathic short stature.
Today’s genetically engineered GH i.e. recombinant human GH
(rhGH) therapy costs US$ 4000 to 8000. It is mandatory to start such a therapy
before 11 years of age for attaining the optimal height. Recombitant GH is
administered in a daily dose of 0.1 unit/kg (SC), preferably at night, until
adult height is attained. Usually height gain is 10-12 cm in first year and 6-8
cm every year subsequently. More recently, it has been advocated that GH
therapy should preferably be monitored by insulin-like growth
Factor-1(IGF-1) to ensure safety and efficacy of GH. Excess
GH and IGF-1 exposure and malignancy are known risks of GH therapy.
Obesity
Despite overwhelming problem of nutritional deficiencies in
developing countries, obesity too is encountered, especially among the infants
and children of the elite who ape the lifestyle of the west.