Pediatric Growth Hormone Deficiency Clinical Presentation

Updated: Dec 09, 2022
  • Author: Vaneeta Bamba, MD; Chief Editor: Robert P Hoffman, MD  more...
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The history in patients with suspected growth hormone deficiency (GHD) should focus on the following issues:

  • Birth weight and length: Intrauterine growth retardation is an issue in the differential diagnosis and should be apparent from the birth history.

  • Height of parents

    • Calculation of the sex-adjusted midparental height, also termed the "target height," helps evaluate a child's genetic potential.

    • For boys, calculate the sex-adjusted midparental height by adding 2.5 in or 6.5 cm from the mean of the parents' heights. For girls, subtract 2.5 in or 6.5 cm from the mean of the parents' heights.

    • This sex-adjusted midparental height represents the statistically most probable adult height for the child, based on parental contribution.

  • Timing of puberty in parents

    • Constitutional delay in growth and maturation may have a family history. Most mothers can remember their age at menarche (average age is 12-12.5 y).

    • Although pubertal age is more difficult to establish for fathers because no precise landmark is recognized, recall is generally good for development later than other boys, for always looking younger than peers, for continuing to grow after high school, and for delayed beard appearance.

  • Previous growth points

    • The child's growth pattern is an important part of the workup for short stature. Previous growth data may be obtained from physicians' offices, schools, or heights plotted on a door at home.

    • If the growth rate is normal (about 2 in/y [5 cm/y] from age 3 y to puberty), the child's short stature most likely is caused by a normal variant, such as familial short stature or constitutional delay in growth and maturation. If the growth rate is slow, a pathological cause for short stature is more likely.

  • General health of child: Exclusion of chronic disease as the cause of short stature is imperative.

  • Nutritional history: Malnutrition is the most common cause of short stature worldwide. Celiac disease may also present with growth decrease/failure and minimal to no gastrointestinal symptoms. [13]


Physical Examination

The following items should be targeted:

  • Height and weight measurement

    • The best way to evaluate height or weight measurements is to plot the points on a growth chart. A growth chart depicts the child's growth over time, allows comparison of the height or weight to other children, and graphically depicts changes in growth or growth velocity.

    • Although weight is not difficult to determine, height measurement requires care. The following points help provide accurate measurements:

      • Children should be either barefoot or in stocking feet upon measurement. The heels, buttocks, and shoulders should be in contact with the wall or the measuring device.

      • Have the child stand with feet slightly spread but with heels together.

      • Instruct the child to look straight ahead. This positions the head in the Frankfort horizontal plane (ie, the plane represented in the profile by a line between the lowest point on the margin of the orbit and the highest point on the margin of the auditory meatus).

      • Instruct the child to hold a deep breath at the time of measurement.

      • Use proper equipment. The ideal device for height measurement is a wall-mounted stadiometer with an arm that moves vertically. The arm is placed on the head; the height can be read from a counter or from a ruler on the wall. If a stadiometer is unavailable, good height measurements may be obtained from a yardstick (or meterstick) attached to the wall, combined with a device creating a right angle with the wall and the child's head. Floppy-arm devices mounted on weight scales are inherently inaccurate and frequently yield poor measurements. A child's height can be determined using this device, but accurate measurement requires even more attention.

      • For precise height determinations, measure the child 2-3 times and calculate the mean. If the first 2 measurements agree, consider them accurate.

      • Measure the child at the same time of day to minimize diurnal variation in height.

  • Proportionality: Inspect the child for proportionality of limbs and trunk. The following measurements may be taken if disproportionality is suspected:

    • Arm span: Measure outstretched arms from fingertip to fingertip. The arm span should approximate the height, although this depends on genetic background. In comparisons of people of Asian, European, and African heritage, Asians have proportionally shorter arms, Europeans have intermediate arm length, and Africans have significantly longer arms.

    • Lower segment (LS): Measure from the symphysis pubis to the floor.

    • Upper segment (US): Calculate by subtracting the lower segment measurement from the height.

    • US/LS ratio: Calculate by dividing US by LS. For people of European origin, the US/LS ratio at birth is approximately 1.7:1 and decreases to 1:1 at age 10 years, a ratio that lasts throughout adulthood. In comparisons of people of Asian, European, and African heritage, Asians have proportionally shorter legs (and, therefore, larger US/LS ratios), Europeans have intermediate length legs, and Africans have significantly longer legs.

  • Pubertal status

    • Calculate stage of puberty using the Tanner staging system. [14]

    • Constitutional and many other pathological causes of short stature, including growth hormone deficiency, delay puberty.

  • Evidence of specific syndromes: Many syndromes include short stature as follows: