Abnormally short height in childhood may be due to dysfunction of the pituitary gland causing underproduction of growth hormone. A variety of genetic syndromes, a tumor in the pituitary gland, the absence of the pituitary gland, or trauma are some of the known causes of this condition, but in most cases no underlying cause of the deficiency is found.

Growth retardation may become evident in infancy and persists throughout childhood. The "growth curve," demonstrated by plotting sequential height measurements on a standardized growth chart, may range from flat (no growth) to very shallow (minimal growth). Normal puberty may or may not occur, depending on the degree of pituitary insufficiency (inability of the pituitary to produce adequate hormone levels other than growth hormone).

Pituitary dwarfism 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.

• absent or slowed increase in height
• slow growth before age 5
• short stature (below 5th percentile on standardized growth chart , adult is less than 5 feet tall)
• absent or delayed sexual development in an adolescent
• headaches
• excessive thirst coupled with excessive urination
• increased urine volume

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

Tests include the following:

• A determination of bone age from hand X- ray (extremity X-ray) is often recommended.
• Measurement of growth hormone levels confirms that the disorder is caused by dysfunction of the pituitary gland.
• Other hormone levels should be determined as lack of growth hormone may not be an isolated problem.
• X-ray may show skull abnormalities such as small, enlarged, or empty sella or a space-occupying lesion.
• A CT and/or MRI scan of the head may be ordered.

Replacement therapy with synthetic growth hormone can be used for children with documented growth hormone deficiency. No ideal treatment schedule has yet been determined.

If the deficiency is an isolated growth hormone deficiency, synthetic growth hormone is given alone. If the deficiency is not isolated, other hormone replacement preparations will be required as well.

Growth rates are improved in most children treated with growth hormones, although the effectiveness of treatment may decrease with prolonged treatment.

If left untreated, extremely short stature and delayed pubertal development will result from this condition.

In the past, some patients acquired Creutzfeldt-Jacob disease (the human form of 'mad cow' disease) from human-derived growth hormone used in treatment of pituitary dwarfism. This medication has been removed from the market.

Synthetic growth hormone is used instead and carries no risk of infectious disease.