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Is Growth Hormone Deficiency Genetic

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Evaluation Of Children With Short Stature And/or Growth Deceleration

Diagnosis and Management of Growth Hormone Deficiency

Referral criteria have been developed for health care providers aimed at early detection of growth disorders based on a combination of low height standard deviation score , discrepancy from target height, and growth deceleration . Although WHO growth charts can be utilized for children up to 2 years of age, local growth charts, when available, are more appropriate for older children .

The evaluation of short stature has been described previously . The medical history should include information about consanguinity, use of assisted reproductive technologies, gestation, birth weight, length, head circumference, and family history including pubertal timing and anthropometry of relatives. In addition, it is important to elicit symptoms concerning hypothyroidism, precocious or delayed puberty, systemic causes of poor growth, and neurological symptoms. A full physical examination should be performed with special attention to dysmorphic features and body proportions.

All patients should have their head circumference measured, as this can point to specific genetic abnormalities. Patients should be assessed for disproportion by measuring sitting height and arm span . The use of sitting height/height ratio is believed to be more reliable and reproducible, and is preferred over upper/lower segment ratio when available. Patients should be assessed for dysmorphisms that may provide clues to the underlying diagnosis, such as a SHOX deficiency or constitutive activation of FGFR3 .

How Is Growth Hormone Deficiency Diagnosed

Your childs doctor will look for signs of GHD if your child isnt meeting their height and weight milestones. Theyll ask you about your growth rate as you approached puberty, as well as your other childrens growth rates. If they suspect GHD, a number of tests can confirm the diagnosis.

Your levels of growth hormone fluctuate widely throughout the day and night . A blood test with a lower-than-normal result isnt enough evidence in itself to make a diagnosis.

One blood test can measure levels of proteins which are markers of growth hormone function but are much more stable. These are IGF-1 and IGFPB-3 .

Your doctor may then go on to a GH stimulation test, if screening tests suggest that you have a GH deficiency.

Growth plates are the developing tissue at each end of your arm and leg bones. Growth plates fuse together when youve finished developing. X-rays of your childs hand can indicate their level of bone growth.

If a childs bone age is younger than their chronological age, this might be due to GHD.

If your doctor suspects a tumor or other damage to the pituitary gland, an MRI imaging scan can provide a detailed look inside the brain. Growth hormone levels will often be screened in adults who have a history of pituitary disorders, a brain injury, or who need brain surgery.

Testing can determine whether the pituitary condition was present at birth or brought on by an injury or tumor.

Questions To Ask Your Doctor

You and your family are key players in your childs medical care. Its important that you share your observations and ideas with your childs health care provider and that you understand your providers recommendations.

If your child is experiencing symptoms of growth hormone deficiency and youve set up an appointment, you probably already have some ideas and questions on your mind. But at the appointment, it can be easy to forget the questions you wanted to ask. Its often helpful to jot them down ahead of time so that you can leave the appointment feeling like you have the information you need.

If your child is old enough, you may want to suggest that she write down what she wants to ask her health care provider, too.

Some of the questions you may want to ask include:

  • Whats causing my childs growth hormone deficiency?
  • Will you be prescribing growth hormone replacement therapy?
  • Are there any side effects or potentially dangerous risks to treatment?
  • How long will my child have to remain on medication?
  • How much can I expect my child to grow?

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When Should I See My Healthcare Provider About Growth Hormone Deficiency

There are many reasons for slow growth and below-average height in children. At times, slow growth is normal and temporary, such as right before puberty starts. If youre concerned about your childs rate of growth, see a pediatric endocrinologist or healthcare provider. They can help find out if your childs rate of growth is cause for concern.

If youre an adult and are experiencing symptoms of growth hormone deficiency , talk to your healthcare provider.

If you or your child have been diagnosed with GHD, youll need to see your healthcare provider regularly to make sure your treatment is working properly.

A note from Cleveland Clinic

If youre noticing a lack of growth in your child, its important to talk to their healthcare provider as soon as possible. While it may be unlikely that growth hormone deficiency is the cause, any concerning changes are worth evaluating. People with GHD who are diagnosed early have the best outlook and usually lead healthy lives. If you have any questions about what to expect with your childs growth, dont be afraid to reach out to their provider. Theyre there to help.

How Can I Help My Child Live With Gh Deficiency

Isolated Growth Hormone Deficiency: Genetic Causes and Treatment

Children who are shorter than their peers may have poor self-esteem or depression. Its important to talk about these problems with your child and your child’s healthcare provider. He or she can recommend counseling or support groups for you and your child.

Talk with your child’s healthcare provider about your child’s potential adult height. Work with your child’s healthcare providers to create an ongoing plan to manage your childs condition.

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What Are The Complications Of Growth Hormone Deficiency

Left untreated, growth hormone deficiency in children may lead to short stature and delayed puberty.

Despite proper treatment, people with adult-onset growth hormone deficiency have an increased risk of heart disease and stroke. Healthy living, such as eating a balanced diet and participating in routine exercise, can help reduce this risk.

People with adult-onset GHD also have a higher risk of developing osteoporosis. Because of this, they have a higher risk of developing bone fractures from minor injuries or falls. To decrease these risks, its important to have a diet thats rich in calcium and to take vitamin D supplements, as recommended by your healthcare provider.

Iv Genetic Causes Of Isolated Ghd

The incidence of congenital IGHD varies between 1 in 4000 to 1 in 10 000 live births, and although it is most commonly sporadic, depending on the cohort screened, between 3% and 30% of cases are familial, implicating genetic factors. Classically familial IGHD has been classified into 4 types, depending on the inheritance pattern, as autosomal recessive , dominant , or X-linked . However, the expanding knowledge on the molecular defects leading to IGHD and the emerging patterns of phenotype/genotype correlations may challenge this classification. The commonest genes implicated in the genetic etiology of IGHD are those encoding GH and the receptor for GHRH , whereas IGHD may be the only or first presentation of mutations in genes encoding early or late transcription factors. Depending on the cohort studied and the criteria used for defining GHD, mutations in known genes are identified in almost 11% of GHD patients, with a higher prevalence in familial compared with sporadic IGHD .

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How Is Growth Hormone Deficiency Treated

Since the mid-1980s, synthetic growth hormones have been used with great success to treat children and adults. Before synthetic growth hormones, natural growth hormones from cadavers were used for treatment.

Growth hormone is given by injection, typically into the bodys fatty tissues, such as the back of the arms, thighs, or buttocks. Its most effective as a daily treatment.

Side effects are generally minor, but may include:

  • redness at the injection site
  • curving of the spine

In rare cases, long-term growth hormone injections may contribute to the development of diabetes, especially in people with a family history of that disease.

How Is Gh Deficiency Diagnosed In A Child

Understanding Pediatric Growth Hormone Deficiency

To diagnose GH deficiency, your childs healthcare provider needs to check for other conditions such as:

  • Normal variations of growth, such as familial short stature
  • Other disorders, such as thyroid hormone deficiency or kidney disease
  • Genetic conditions

The healthcare provider will ask about your childs symptoms and health history and about your familys health history. He or she will also give your child a physical exam. Your child’s health and growth may be checked over several months.

Your child may also have tests, such as:

  • Blood tests. These are done to check growth hormone and other related hormone levels. Sometimes the blood tests are done after your child is given a substance that would normally raise growth hormone levels.
  • X-ray. This test uses a small amount of radiation to make images of tissues inside the body. An X-ray may be done of the left hand and wrist. This can estimate your child’s bone age. With delayed puberty or hormone problems, bone age is often less than calendar age.
  • CT scan. This test uses a series of X-rays and a computer to make detailed images of the body. A CT scan can show bones, muscles, fat, and organs. CT scans are more detailed than regular X-rays.
  • MRI. This test uses large magnets and a computer to make detailed images of tissues in the body.

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Classification Of Isolatedgrowth Hormone Deficiency

Structure and Function of GH and CS Genes

Familial Isolated GHD

Short stature associated with GHD has been estimated to occur in about 1/4,000 1/10,000 in various studies . While most cases are sporadic and are believed to result from environmental cerebral insults or developmental anomalies, 330% of cases have an affected firstdegree relative suggesting a genetic aetiology. Since magnetic resonance examinations detect only about 1220% anomalies of either hypothalamus or pituitary gland in isolated GHD , it can be assumed that many genetic defects may not be diagnosed and a significantly higher proportion of sporadic cases may have indeed a genetic cause . Familial IGHD, however, is associated with at least four Mendelian disorders , including two forms that have autosomal recessive inheritance as well as autosomal dominant and Xlinked forms. Table 1 depicts the mutational spectrum of GHD, which is discussed in greater detail later in the review.

Who Gets Growth Hormone Deficiency

Incidence: Growth hormone deficiency is relatively rare. About one in 4,000 to 6,000 children have GHD, and it affects about 50,000 U.S. adults.

Sex: GHD, except for one inherited subtype, affects boys and girls equally, though data shows boys are more likely to be diagnosed and treated.

Race/ethnicity: Scientists are not aware of differences across racial or ethnic groups, though data suggests that white people are more likely to be diagnosed and treated.

Risk factors: A family history of GHD or having had brain surgery or radiation therapy to the head can increase risk of GHD.

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What Are The Different Kinds Of Growth Hormone Deficiency

There are three main types of growth hormone deficiency , including:

  • Congenital GHD: Congenital GHD means its present from birth due to a genetic mutation or structural issues in the babys brain.
  • Acquired GHD: GHD is considered to be acquired if its onset is later in life as a result of damage to your pituitary gland. Children and adults can have acquired GHD.
  • Idiopathic GHD: In the medical world, idiopathic means theres no known cause. Some cases of GHD have an unknown cause.

Growth hormone deficiency is also categorized by the age of onset. It has different symptoms and processes for diagnosis if youre a child or adult when the condition begins.

Overgrowth With No Associated Intellectual Problems


By contrast to gene defects that cause short stature, alternative defects in the same genes can result in overgrowth. Gain-of-function mutations in NPR2 have been identified in a number of patients with skeletal overgrowth, with associated features of scoliosis and macrodactyly, with markedly large big toes . The ligand for the receptor is C-type natriuretic peptide and overproduction due to translocation of the NPPC gene also caused tall stature with macrodactyly and skeletal dysplasia . The mechanism of excess skeletal growth due to increased activation of the CNP/NRPB system was reported to be through overproduction of cyclic guanosine monophosphate within the growth plate chondrocytes .

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Gh Resistance And Igf

Table 3. Genetic abnormalities associated with GH resistance and IGF-I insensitivity.

More recently, defects in PAPP-A2 have been identified in children with progressive post-natal growth failure from two unrelated families . The gene encodes pregnancy-associated plasma protein -A2, which is a metalloproteinase that cleaves insulin-like growth factor binding protein -3 and IGFBP-5. Serum concentrations of total IGF-I, IGF-II, IGFBP-3, acid-labile subunit, and insulin were all increased in these patients however, free IGF-I concentrations were very low, resulting in lack of negative feedback on GH synthesis and release. X-radiography of the fibulae, tibiae, and femurs showed that the long bones were very thin bone density was low, with abnormal trabecular structure, and mild to moderate microcephaly was observed. After 1 year of treatment with recombinant human IGF-I, two Spanish patients showed a good response of growth velocity, height gain, and trabecular bone score . A report has recently been published on the history and clinical implications of defects in PAPP-A2 in human growth . The specific degradation of IGFBP-3 and IGFBP-5 by the active metalloproteinase results in release of free IGF-I, and it has been demonstrated that the identified mutations in the PAPP-A2 gene, producing inactive PAPP-A2, cause increased binding of IGF-I and low bioactivity, with consequent reduced skeletal growth .

What Are The Signs And Symptoms Of Growth Hormone Deficiency

The signs and symptoms of growth hormone deficiency vary based on what age you are at the onset of the condition.

Symptoms of growth hormone deficiency in infants and children

Growth hormone deficiency in infants and children results in poor growth. The main sign of GHD in children is slow height growth each year after a child’s third birthday. This means they grow less than about 1.4 inches in height a year.

Other symptoms of GHD in children and infants include:

  • A younger-looking face than whats expected for their age.
  • Impaired hair and nail growth.
  • Delayed tooth development.
  • Low blood sugar levels in infants and toddlers.

Symptoms of adult-onset growth hormone deficiency

Symptoms of adult-onset GHD can be more difficult to detect. Symptoms include:

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How Boston Childrens Hospital Approaches Growth Hormone Deficiency

We view the diagnosis of growth hormone deficiency as an important first step to treatment and, ultimately, to your childs long-term health and continued growth. You can rest assured knowing your child is in capable hands.

Our compassionate staff includes physician specialists who are experienced in the evaluation, diagnosis, and treatment of growth hormone deficiency. And we are uniquely qualified to determine the best course of care for your child. Our child-centric approach ensures that we care for your child as a child, not just another patient.

Because the chain of events involved in growth hormone deficiency is so complex, our researchers are investigating the different events that can cause a child to have short stature. Not all of these individual defects are well understood or easy to detect with a test, making this research vital to treatment strategies.

Our Division of Endocrinology is one of the world’s leading centers dedicated to caring for children and adolescents with acute and chronic endocrine and metabolic disorders. For children who suffer from growth problems, our dedicated team of doctors, nurses, and other caregivers offer hope for a healthier future.

What Are The Signs And Symptoms Of Childhood

Behind the Mystery of Pediatric Growth Hormone Deficiency Health-Sciences University

Signs and symptoms vary depending on the severity of the defect and the childs age and can be difficult to identify.

Babies born with growth hormone deficiency have a normal new-born size and generally show no signs at all, but can have low blood sugar levels or yellowish skin colour, which can be due to causes other than growth hormone deficiency.

In both early and later childhood, growth hormone deficiency is identified as slow growth compared with other children of the same age. . Often, the children look chubbier, shorter and younger for their age. Poor development of the bones in the middle of the face is also a sign of inadequate growth hormone. Body proportions and intelligence remain normal.

Growth hormone deficiency can be associated with deficiencies of one or several other pituitary hormones, for example those that control the thyroid or adrenal glands. Signs and symptoms may also be present because of these additional hormone deficiencies and there are many conditions that can cause poor growth and short stature that have nothing to do with growth hormone deficiency. This can make reaching the correct diagnosis a challenge.

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How Is Gh Deficiency Treated In A Child

Your child’s healthcare provider will consider his or her age, overall health, and other factors when advising treatment. Your child may need to see a pediatric endocrinologist. This is a doctor with extra training in treating children with hormone problems. This specialist will also have the best equipment to accurately measure your child’s growth from month to month.

Treatment is done with daily injections of synthetic growth hormone. Results are often seen as soon as 3 to 4 months after treatment starts. The treatment lasts several years, usually until late puberty when growing is finished. The earlier the treatment is started, the better the chances that a child will have a normal or near-normal adult height that matches his or her family pattern.

Not all children respond well to growth hormone treatment. GH therapy does not make a person taller than his or her parents.

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