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Growth Hormone Deficiency (GHD)

Overview

Growth hormone deficiency (GHD) is a condition that develops due to insufficient amounts of growth hormone in the body. You may also hear other words for this disorder, like dwarfism or pituitary dwarfism. Children with GHD have abnormal short stature, whereas their body proportions are normal. GHD may present at birth that is congenital or developed later in life called acquired. It is more prevalent in children than in adults. Growth hormone is produced by the pituitary gland, a pea-sized gland situated at the base of the skull. It plays a vital role in producing essential hormones and their control. Some principal function includes thyroid control and body temperature control. Growth hormone deficiency could also be a presenting symptom of many other genetic diseases, like Prader-Willi syndrome. A parent might be concerned that the child isn’t reaching height and weight growth standards. But growth hormone deficiency on its own is treatable. The early diagnosis leads to remarkable results. If left untreated, the condition can result in short height and delayed puberty. Adults may also develop GHD because they require growth hormones even after puberty to maintain body physical health and metabolism, but it is not very common. 

 

Causes

Growth hormone deficiency may be congenitally present at birth. GHD that does not present at birth may occur due to a tumor in the brain. These tumors are usually located at the site of the pituitary gland or close to the hypothalamic region of the brain. Serious head injuries, infections, and radiation treatments can also be one of the causes of GHD in children as well as adults. This is referred to as acquired growth hormone deficiency (AGHD). The majority of cases of GHD are idiopathic, which means the cause is unknown. 

 

Risk Factors

Unlike other chronic health conditions, the risk factors for child growth hormone deficiency are not related to lifestyle. Diet, exercise, and adherence to medical advice do not affect the risk of developing growth hormone deficiency. 

 

Epidemiology

The incidence of idiopathic GHD in infants is 1 in every 3800 live births. The probability of GHD in older children is increasing as many children survive childhood cancers treated with radiotherapy. The incidence of adult-onset GHD is usually due to pituitary tumors and is estimated to be 10 cases per one million. 

 

Signs And Symptoms

Children with GH deficiency will show slowed or stunted growth. They may have a relatively young-looking rounded face and short stature. Developing GHD later in life due to a brain injury or tumor would exhibit delayed puberty as the main symptom. Sexual development and features will not appear. For instance, women may not develop breasts, and men's voices may not deepen at the same normal age of change. This can lead to low self-esteem and depression in these patients.

Adults with reduced growth hormone levels may complain of fatigue and lack of stamina. They may also experience hot or cold temperature insensitivity. Adults with growth hormone deficiency typically suffer from increased fat and cholesterol levels in the blood. This is primarily not due to a sedentary lifestyle, but rather due to changes in the body’s metabolism caused by reduced levels of growth hormone. Adults with growth hormone deficiency are at increased risk for diabetes and heart disease. Reduced bone strength is also a predominant symptom of GHD. This may lead to repeated fractures, particularly in older adults.

 

Diagnosis

If you feel your baby is not achieving growth like other babies, you may contact your healthcare provider. Your doctor will ask you questions regarding your child's development and previous growth pattern. They may check the height of the parents also and may ask about their age at the onset of puberty. The doctor may crosscheck the baby's general health and nutritional status. Some blood tests will be ordered to measure levels of proteins, which are crucial markers of growth hormone function and some other hormones. These include:

·         IGF-1 (Insulin-like growth factor)

·         IGFPB-3 (Insulin-like growth factor-binding protein)

·         A GH stimulation test may be performed if screening tests suggest GH deficiency

·         Thyroid hormone levels

·         CBC and Electrolytes

·         Tests for celiac disease to rule out malabsorption

·         Karyotyping to find genetic diseases

Imaging: X-ray can be used to check for bone age and compare it with chronological age. Reduced fusion of growth plates on x-rays also helps in diagnosis. MRI scans of the head can possibly identify the presence of a pituitary tumor. 

 

Differential Diagnosis

Some of the disorders overlapping with growth hormone deficiency include;

·         Familial short stature

·         Growth Hormone Resistance

·         Noonan Syndrome

·         Panhypopituitarism

·         Pediatric Hypothyroidism

·         Psychosocial Short Stature

·         Short stature which can be due to systemic disease, genetic syndrome, or endocrinopathies.  

·         Turner Syndrome 

 

Treatment

Growth hormone deficiency is easily treated by giving growth hormone to the patients. Multiple developments have been made in the production of growth hormones. Initially, it was taken from the cadavers but now it is produced in the laboratory by recombinant DNA techniques (recombinant human growth hormone [rhGH]). Earlier, it was given two to three times a day concerning the normal secretions of the growth hormone in the body. But now a single injection into the body’s fatty tissues, such as the back of the arms, thighs, or buttocks is sufficient. Side effects related to growth hormone use are mild but may include: redness at the injection site, headaches, hip pain, and curving of the spine (scoliosis). Response to the treatment is measured every three to six months. Other pituitary disorders must be identified and treated simultaneously to achieve treatment goals.

Long-term treatment: Children suffering from congenital GHD are treated with growth hormones until puberty for the long term. Sometimes, children suffering from reduced growth hormone production will start producing naturally in their youth as they enter adulthood. But in some cases, they remain in the treatment for their entire lives. Regular monitoring of hormone levels in the blood helps in deciding to stay on ongoing treatment. 

 

Prognosis

If the deficiency is evident from certain signs and symptoms, the prognosis is excellent with timely treatment. 

 

Prevention

Adult-onset growth hormone deficiency is prominent when the pituitary gland fails to produce an adequate amount of growth hormone which cannot be prevented but can be managed successfully with hormone therapy. 

Our clinical experts continually monitor the health and medical content posted on CURA4U, and we update our blogs and articles when new information becomes available. Last reviewed by Dr.Saad Zia on May 07, 2023.

References

https://www.hopkinsmedicine.org/health/conditions-and-diseases/growth-hormone-deficiency#:~:text=Growth%20hormone%20deficiency%20(GHD)%2C,or%20develop%20later%20(acquired).

https://rarediseases.org/rare-diseases/growth-hormone-deficiency/