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Growth Hormone Deficiency

Growth hormone deficiency (GHD) is a disorder characterized by an absent or insufficient secretion of growth hormone from the pituitary gland, resulting in slower growth and development. [13] Both children and adults can be diagnosed with GHD, and the exams and tests used are the same for all age groups. Diagnosing GHD typically starts with a physical exam to assess signs and symptoms of slowed growth. The doctor will check the patient’s weight, height, and body proportions as individuals with GHD are much shorter than normal persons. Other than a physical exam, there are a wide range of tests and exams required in order to come up with a GHD diagnosis.
Blood tests for GHD include the following:

  • Binding protein levels (IGF-I and IGFBP-3): This is used to show whether GHD is caused by a problem in the pituitary gland. [14]
  • GH stimulation test: This test is used to diagnose GHD and hypopituitarism (diminished hormone secretion by the pituitary gland). The test makes use of an intravenous solution to stimulate GH release from the pituitary gland and check whether GH release is at normal levels. [15]
  • GH suppression test: This test helps to diagnose GH excess. The patient is given a standard dose of glucose to drink and blood is drawn at timed intervals to check if the pituitary gland is sufficiently suppressed. [16]
  • Insulin tolerance test: This test involves injection of insulin into a patient’s vein to assess pituitary function. [17]

In addition to blood tests, the doctor can also perform additional exams and tests such as X-rays and MRI to help diagnose GHD.
Causes
It is normal for the pituitary gland to produce lesser amounts of GH, sex hormones, and other essential hormones in the body as a person ages. Physicians therefore distinguish between age-related GHD and those with identifiable causes which can be present at birth (congenital), or acquired at some point in life.
Congenital causes of GHD are:

  • Brain tumors
  • Abnormal pituitary gland
  • Cleft lips or cleft palates (children with these conditions often have poorly developed pituitary glands) [18]
  • Gene mutations (e.g. Growth-hormone-releasing hormone receptor, GH1)
  • Congenital diseases such as Prader-Willi syndrome, Turner syndrome, [19] or short stature homeobox gene (SHOX) deficiency[20]
  • Chronic kidney disease (CKD) [21]

Acquired causes of GHD include the following:

  • Serious head injuries or trauma
  • Infections
  • Surgery
  • Radiation

Symptoms
In children, symptoms of GHD include the following: [22]

  • Children with GHD are shorter than their peers
  • Delayed puberty
  • Increased fat around the face and stomach
  • Slow tooth development
  • Sluggish hair growth
  • Younger, rounder faces
  • Small penis

In adults, the symptoms can vary, and most of them can experience the following: [23]

  • Baldness
  • Decrease in sexual function and interest
  • Decreased muscle mass and strength
  • Difficulty concentrating
  • Dry, thin skin
  • Fatigue related to low energy levels
  • Cardiovascular problems
  • High levels of bad cholesterol
  • Insulin resistance
  • Memory problems
  • Mood changes
  • Reduced bone density
  • Sensitivity to heat and cold
  • Weight gain
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