Growth hormone deficiency involves abnormally short stature with normal body proportions. Growth hormone deficiency can be categorized as either congenital (present at birth) or acquired.

An abnormally short height in childhood may occur if the pituitary gland does not produce enough growth hormone. It can be caused by a variety of genetic mutations (such as Pit-1 gene, Prop-1 gene, growth hormone receptor gene, growth hormone gene), absence of the pituitary gland, or severe brain injury, but in most cases no underlying cause of the deficiency is found.

Growth retardation may become evident in infancy and persist throughout childhood. The child's "growth curve," which is usually plotted on a standardized growth chart by the pediatrician, may range from flat (no growth) to very shallow (minimal growth). Normal puberty may or may not occur, depending on the degree to which the pituitary can produce adequate hormone levels other than growth hormone.

Growth hormone deficiency may be associated with deficiencies of other hormones, including the following:

• Thyrotropins (control production of thyroid hormones)
• Vasopressin (controls water balance in the body)
• Gonadotropins (control production of male and female sex hormones)
• ACTH or adrenocorticotrophic hormone (controls the adrenal gland and its production of cortisol, DHEA, and other hormones)

Physical defects of the face and skull can also be associated with abnormalities of the pituitary or pituitary function. A small percentage of infants with cleft lip and cleft palate have decreased growth hormone levels.

• Slowed or absent increase in height
• Slow growth before age 5
• Short stature -- below 5th percentile on a standardized growth chart, an adult less than 5 feet tall
• Absent or delayed sexual development in an adolescent
• Headaches
• Excessive thirst with excessive urination
• Increased urine volume

A physical examination including weight, height, and body proportions will show signs of slowed growth rate and deviation from normal growth curves.

Tests may include the following:

• Hand x-ray can determine bone age.
• DEXA (Dual Energy X-ray Absorptiometry) can also determine bone age.
• Measurement of growth hormone and associated binding protein levels (IGF-I and IGFBP-3) reveals if the growth problem is caused by dysfunction of the pituitary gland.
• Tests to measure other hormone levels (lack of growth hormone may not be an isolated problem).
• X-ray of head may show problems with the skull, such as small, enlarged, or empty sella or a space-occupying lesion.
• MRI of the head can show the hypothalamus and pituitary glands.