An Overview of Growth Hormone Deficiency in Children

Growth hormone deficiency (GHD) results when the pituitary gland produces an insufficient amount of growth hormone. Although most common in children born with the disorder, known as congenital GHD, growth hormone deficiency can develop later in life (acquired GHD). Congenital GHD causes delays in growth, short stature, and other signs of slowed physical maturation. Although GHD does not directly affect intellectual ability, some children also may experience learning and other delays. In adults, symptoms of acquired GHD range from reduced energy levels to osteoporosis and impaired cardiac function. Congenital GHD is caused by a genetic defect, while acquired GHD most often results from brain trauma or a pituitary gland tumor. The standard treatment for growth hormone deficiency is daily injections of recombinant human growth hormone (rHGH).

Symptoms

A child born with congenital GHD will have different symptoms than an adult who develops the disorder later in life. For children, one of the tell-tale symptoms, shorter-than-average stature, arises because the condition slows the rate at which the bones of the arms and legs grow.

Besides short stature, symptoms of growth hormone deficiency in children include:

• A large forehead (due to incomplete closure of the skull)
• Slowed development of facial bones, including a small or underdeveloped nose
• Delayed growth of adult teeth
• Fine or sparse hair
• Insufficient nail growth
• High-pitched voice
• Excess of abdominal fat
• Delayed puberty
• Although very rare, a micropenis in boys

Adults who develop GHD may experience any of an array of symptoms:

• Decrease in energy
• Changes in body composition — specifically an increase in abdominal and visceral fat and a decrease in lean body tissue
• Reduced muscle strength
• Osteoporosis
• Increased blood cholesterol levels
• Insulin resistance
• Impaired cardiac function
• Sexual dysfunction
• Depression or anxiety

Causes

Congenital growth hormone deficiency is caused by a gene mutation that can be passed along by both or either parents, depending on the specific mutation. Three genetic defects are known to be responsible for GHD: growth hormone deficiency IA, growth hormone deficiency IB, or growth hormone deficiency IIB. Congenital GHD also can result from brain defects that lead to inadequate development of the pituitary gland.

There are a number of potential causes of acquired GHD. Among them are:

• Brain trauma
• Infections of the central nervous system
• Pituitary gland tumors
• Hypothalamus tumors
• Systemic diseases such as tuberculosis or sarcoidosis
• Cranial irradiation

Diagnosis

There are important differences in the diagnostic process for children and adults. For children, whose overall health is evaluated at yearly checkups, a suspicion of GHD is easily ascertained when they clearly are lagging behind other kids their age based on growth charts and other measures of normal development and/or show other symptoms of growth hormone deficiency. Medical history and physical examination (specifically height velocity, or speed of growth) are the primary drivers of diagnosis in children. In adults, medical history and physical examination are also important to rule out other diseases.

If a physician decides a blood test is necessary, growth hormone deficiency may be diagnosed by assessing for insulin-like growth factor (IGF-1) and growth factor binding protein (IGFBP-3). But because levels of growth hormone fluctuate throughout the day, GHD cannot be diagnosed by simply measuring the amount of hormone in a blood sample.

Medication may be used to stimulate the pituitary gland to release growth hormone. The effect this has on blood levels are then evaluated. If the medication produces a minimal (or no) increase in growth hormone, a diagnosis of GHD can be confirmed, although more testing may take place to rule out other potential causes of delayed growth, such as a thyroid disorder. A child also may undergo imaging tests to evaluate the growth plates in their bones.

Symptoms caused by growth hormone deficiency in adults are less obvious and can easily be related to other disorders. For this reason, acquired GHD in an adult usually is discovered during a general evaluation of a pituitary function that is being done because of symptoms or signs of the thyroid, adrenal, or sexual dysfunction.

Treatment

Growth hormone deficiency is primarily treated with daily injections of recombinant human growth hormone (rHGH). (The generic name for rHGH is somatropin; brand names include Genotropin, Humatrope, and others).

For children, treatment begins once a diagnosis is made and is continued over the course of several years, which greatly increases the chance they will attain a relatively normal rate of growth and development. The dosage prescribed is increased during this time, reaching a peak around puberty, after which treatment typically is discontinued.

Children who have developmental disorders associated with GHD usually will require targeted treatment for those co-existing problems, such as:

• Physical therapy for delays in walking and strength
• Occupational therapy for self-feeding, dressing, toileting, and learning
• Speech therapy to address weakness in mouth and facial structures that may impact swallowing and talking

A Word From Verywell

Whether growth hormone deficiency is congenital or acquired (or idiopathic), it is a relatively easy disorder to diagnose and treat. The likelihood most children born with GHD who begin growth hormone injections early will catch up with their peers physically and developmentally is high. The prognosis isn't as cut-and-dried for adults, given some who develop GHD may not know it until they develop serious complications, but it still is comforting to know that they can be treated as easily as children.