Human Growth Hormone (HGH) Deficiency

Growth hormone deficiency (GHD) is a condition cause by a severe shortage or absence of growth hormone (GH). The pituitary gland located at the base of the brain makes and helps regulate the GH. Worldwide GHD can be found in 1 out of every 4,000 – 10,000 individuals.

Both children and adults can have GHD. In children it can result congenitally from gene mutations, through trauma to the pituitary gland by injury, structural defects in the brain or disease, or with an unknown cause, known as idiopathic. Adults acquire GHD idiopathically or through trauma such as injury, infection, radiation therapy, or tumor growth.

Symptoms of Growth Hormone Deficiency

Adult GHD often occurs after puberty and growth development so different symptoms indicate the presence of the disorder. These include:

• Reduced energy levels
• Altered body composition
• Osteoporosis
• Reduced muscle strength
• Lipid abnormalities such as increased LDL cholesterol
• Insulin resistance
• Cardiac function impairment
• Reduced passion
• Reduced vitality
• Decreased mood and outlook
• Reduced motivation and drive
• Decreased physical activity
• Decrease in interest for social interaction
• Less enjoyment in everyday activities
• Decrease in mental abilities, especially processing speed and attention
• Less satisfaction with appearance
• Depression
• Anxiety
• Fibromyalgia syndrome

Characterized by short-stature and failure to grow at expected rates, childhood GHD also has a number of other potential characteristics including:

• Growth retardation
• Maturation delays
• Delayed development of facial bones
• Slow tooth eruption
• Delayed lengthening of bones
• Fine hair
• Poor nail growth
• High-pitched voice
• Truncal obesity
• Self-esteem issues due to appearance and growth concerns

Diagnosis of Growth Hormone Deficiency

Growth hormone levels fluctuate throughout the day due to physical activity, sleep, and stress levels among other contributing factors. Adult GHD treatment must take into consideration the possible ramifications of trauma or disease. Because immune system issues are often present, accessing how treatment affects the underlying cause is essential. Specialist in the endocrine system know how to manage symptoms with the synthetic growth hormone treatments.

Testing for adults could include the insulin tolerance test, the glucagon stimulant test, combined growth hormone releasing hormone and the arginine test, and other hormone measuring standards. Some of these are accessed through bloodwork, others through pituitary stimulating testing measures.

Although your physician will do bloodwork, pituitary stimulating tests and genetic testing in children usually provides the most definitive diagnosis. It is important to rule out other possible underlying hormonal issues such as FreeT4, TSH, cortisol, celiac antibodies, and others…

Types of Growth Hormone Deficiency

Four main types of GHD exist depending on the severity of the condition, the gene involved, and the inheritance pattern. The four main types are:

• Type 1A – Characterized by growth failure evident from infancy, type 1A is the most severe and involves a complete absence of GH. It usually involves a mutation to gene GH1 described below.
• Type 1B – Characterized by short stature, though not as severe as type 1A, type 1B individuals have very low levels of GH. Type 1B is usually apparent in early to mid-childhood and involves a mutation to gene GHRHR.
• Type 2 – Type 2 GHD also exhibits very low levels of GH resulting in short stature that varies in severity. It is usually evident in early to mid-childhood and approximately one-half of those with this type have an underdevelopment of the pituitary gland as a result of a GH1 mutation.
• Type 3 – Similar to type 2 in characteristics, this type only affects males because of a mutation on an X-related gene known as bruton tyrosine kinase (BTK) which is essential in the development and maturation of B or immune system cells. B cells produce antibodies and since these cells are compromised males tend to have weakened immune systems and are subject to frequent infections.

Gene Mutations in Growth Hormone Deficiency

While presenting with similar symptoms, the mutation of three distinct genes can be involved in a GHD diagnosis. These three genes are:

• GH1 gene – This gene provides instruction to the pituitary gland to make the growth hormone protein. Without this protein the GH doesn’t have fuel to develop.
• GHRHR gene – This gene provides instruction for the GH releasing receptor to trigger the production and release of GH.
• BTK – this gene provides instruction for making the protein essential in the development and maturation of B cells or white blood cells, boosting the immune system through the production of antibodies.

As indicated, some individuals presenting with GHD don’t have gene mutations, trauma, or illness. The disorder with unknown cause is called idiopathic isolated growth hormone deficiency.

Treatment of GHD

Adults with a GHD diagnosis may be temporarily on GH injections until the underlying disease issue is resolved, or they may be on GH injections from now on. A growth hormone-releasing hormone known as Sermorelin or Geref. The endocrinologist will monitor and test GH levels throughout the treatment process to ensure the safest lowest dose possible. Children may also be given GHRHR if the pituitary gland fails to secrete the GHRH.

After a diagnosis of GHD occurs, children should be started on what is called recombinant human growth hormone (rHGH) immediately. This encourages the optimal growth potential. rHGH is manufactured under the generic and trade names of somatrem, Somatropin, Genotropin, Humatrope, Nutropin, Saizen, and Protropin. The dosage is increased slowly until puberty when the highest dose is administered. GH injections are often discontinued when the individual reaches adulthood, though periodic retesting may be required. Some adults may also be treated with rHGH, depending on their diagnosis.

Treatment for GHD has been shown to be effective in managing many of the symptoms experienced. The ability to increase stature in children and alleviate other symptoms in adults encourages continued research into more possible therapies in the future.

Abuses of GHD Treatment

There is no question that treatment with growth hormones is beneficial to those who deal with the effects of GHD, whether in adulthood or as a child, because of some of the professed benefits has led to its misuse. A notable risk is that off-label users are often unaware of the correct doses required. These individuals often seek much higher doses than those legally prescribed for FDA approved disorders and so run the risk of developing the adverse reactions associated with high HGH in their system.

In addition, many of the compounds falsely sold as HGH, especially from overseas may contain unlisted ingredients including steroid components. These components have been associated with aggressive growth in tumors. Any compound that claims to be made from human tissue should be suspect and avoided due to the rare but deadly Creutzf eldt-Jakob disease associated with human tissue.

While studies of its effects in healthy adults over the age of thirty are limited, one detailed review by a team of researchers in California studied 44 high-quality studies regarding growth hormone in athletes. A notable increase in lean body mass was noted, but it didn’t translate into improved performance, either in strength or in exercise capacity. Fluid retention and fatigue were problems for those taking GH.

To receive the full benefits of HGH, consulting a professional licensed to test, diagnose, and prescribe GH provides the safest means for quality, long-term health benefits and reduces the possibility of adverse side effects.