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Causes and Treatment of Dwarfism

What do doctors call this condition?

Hypopituitarism, panhypopituitarism

What is this condition?

Dwarfism is characterized by dysfunction of the endocrine system,

sexual immaturity and, in children, slowed growth. It results from deficiency of the hormones secreted by the front (anterior) portion of the pituitary, a cherry-sized gland in the base of the brain.

Partial dwarfism and complete dwarfism occur in both adults and children. In children, these disorders may cause late puberty. The prognosis may be good if the child receives adequate hormone replacement therapy and the underlying cause is corrected.

What causes it?

The most common cause of primary dwarfism is a tumor. Other causes include congenital defects (an absent or undeveloped pituitary gland); localized destruction of pituitary tissue (usually from heavy bleeding after childbirth), or partial or total pituitary removal by surgery, radiation therapy, or chemical agents. Rarely, dwarfism results from tuberculosis or other granulomatous diseases. Sometimes, primary dwarfism has no identifiable cause.

Secondary dwarfism stems from insufficient production of releasing hormones by the hypothalamus, a crucial brain structure that regulates many body functions. This hormone deficiency may have no known cause, or it may result from infection, trauma, or a tumor.

What are its symptoms?

Symptoms of dwarfism develop slowly and vary with the severity of the disorder and the number of deficient hormones. In adults, dwarfism may cause:

  • absence of menstruation
  • impotence
  • infertility
  • decreased sex drive
  • diabetes insipidus (a metabolic disorder marked by profuse urination and excessive thirst)
  • an underactive thyroid (causing tiredness, sluggishness, sensitivity to cold, and menstrual disturbances)
  • low blood sugar
  • appetite loss
  • nausea
  • stomach pain
  • dizziness when rising to an upright position.

In children, dwarfism causes slowed growth or late puberty. Dwarfism usually isn't apparent at birth, bur signs start to appear during the first few months; by age 6 months, growth retardation is obvious. Although these children generally enjoy good health, they may be chubby because of fat deposits in the lower trunk, their secondary teeth may come in late, and they may have low blood sugar. They continue to grow at less than half the normal rate - sometimes until their 20s or 30s - to an average height of 4 feet (1.2 meters), bur their proportions are normal.

When dwarfism strikes before puberty, it prevents development of secondary sex characteristics (including facial and body hair). In men, it causes undersized testicles, penis, and prostate gland; absent or minimal sex drive; and inability to initiate and maintain an erection. In women, it usually causes immature breast development, sparse or absent pubic and underarm hair, and absence of menstruation.

Neurologic symptoms associated with dwarfism may include headache, vision problems and, possibly, blindness. Acute dwarfism resulting from surgery or infection is often accompanied by fever, low blood pressure, vomiting, and low blood sugar.

How is it diagnosed?

The doctor evaluates the person to confirm hormonal deficiency due to impairment or destruction of the pituitary gland. He or she must rule out diseases of the hypothalamus, adrenal glands, ovaries or testicles, and thyroid. Some people may undergo special tests to help pinpoint the source of low levels of the hormone cortisol. These tests require careful medical supervision because they may trigger a dangerous condition called adrenal crisis.

The doctor may also order lab tests to measure growth hormone levels in the person's blood after administering regular insulin or Larodopa. In most people, these substances trigger increased secretion of growth hormone. Persistently low growth-hormone levels confirm growth hormone deficiency.

Computed tomography scan (commonly called a CAT scan), magnetic resonance imaging (commonly called MRI), or an X-ray study of the brain's blood vessels can reveal whether a tumor is the cause of dwarfism.

How is it treated?

The most effective treatment for dwarfism is replacement of hormones secreted by the adrenal glands, ovaries or testicles, and thyroid. Hormone replacement therapy includes cortisol, thyroxine, and androgen or cyclic estrogen. To boost fertility, a person of reproductive age may receive follicle-stimulating hormone and human chorionic gonadotropin.

Protropin therapy

The drug Protropin, the main treatment for dwarfism, stimulates growth increases of up to 4 to 6 inches (10 to 15 centimeters) during the first year of treatment. After that, the child's growth rate tapers off. Protropin has limited value after puberty. Occasionally, a child becomes unresponsive to Protropin, even in larger doses. In these children, small doses of androgen may again stimulate growth, but extreme caution is needed to prevent premature closure of the heads of long bones. Children with dwarfism may also need replacement of adrenal and thyroid hormones and, as they approach puberty, sex hormones.

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