Alternate Names: Growth hormone deficiency; Panhypopituitarism; Dwarfism

Causes and Risks:

Abnormally short height in childhood may be due to dysfunction of the pituitary gland, resulting in underproduction of growth hormone. This may result from a variety of genetic syndromes, a tumor in the pituitary gland, absence of the pituitary gland, or trauma. Sometimes a cause cannot be identified.

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) that is present.

Pituitary dwarfism may be associated with deficiencies of other hormones:

• thyrotropins (controls production of thyroid hormones)
• vasopressin (controls water balance in the body)
• gonadotropins (controls 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 may also be associated with abnormalities of the pituitary or pituitary function. A small percentage of infants with cleft lip and cleft palate may have decreased growth hormone levels.

Prevention: Most cases are not preventable.

Symptoms:

• absent or slowed growth (height)
• growth, slow (child 0-5 years)
• short stature (child is below 5th percentile on standardized growth chart , adult is less than 5 feet tall)
• delayed sexual development in an adolescent
• absent sexual development
• headaches
• excessive thirst coupled with excessive urination (increased volume)
• increased urine volume

Signs and Tests:

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

Tests:

• 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, skull (small sella, empty sella, enlarged sella, space occupying lesion).
• CT scan, head.
• MRI, head.

Treatment:

Replacement therapy with growth hormone is indicated for children who have documented growth hormone deficiency. No ideal treatment schedule has been developed yet. If the deficiency is an isolated growth hormone deficiency only growth hormone is given. If the deficiency is not isolated other hormone replacement preparations will be required.

Prognosis:

Long-term benefits of growth hormone replacement therapy are still under study. Growth rates are improved in most children treated with growth hormones, although the effectiveness of treatment may decrease with prolonged treatment.

Complications:

Untreated, short stature and delayed pubertal development will result. Creutzfeldt-Jacob disease has been acquired from cadaver derived growth hormone (no longer available). Synthetic growth hormone is now available which is free of all infectious disease risk.

Call for an appointment with your health care provider if your child seems abnormally short for their age.