AGE Growth Deficit
In utero Small for gestational age
Birth Small at birth
Infancy 3rd - 10th percentile
Childhood 3rd percentile, slow growth
Adolescence Below 3rd percentile, no growth spurt
Adult Mean adult height 20 cm below population
There is treatment to augment the primary characteristic clinical short stature in young females with Turner Syndrome. But, time is of the essence to initiate treatment, as growth will be inhibited after a certain age and development.
The American Association of Clinical Endocrinologists defines short stature as height more than 2 standard deviations below the mean for age and gender, which corresponds to the shortest 2.3% of individuals. Short stature is the only clinical finding invariably associated with the 45,X karyotype; it also is the only phenotypic abnormality present in virtually 100% of patients.
Short stature is the single most common physical abnormality in Turner’s syndrome, and individuals not treated with growth-promoting techniques achieve an adult stature 20 cm shorter than that of the normal population to a final height on average 4'8". The height of patients with Turner’s syndrome, when plotted on growth curves specific for this disorder, show that growth velocity declines often as early as two to four years of age and referral for screening occurs five to seven years after the evidence of growth failure. Final height is compromised by a delay in the onset of treatment.
Turner syndrome occurs when one normal X chromosome is present in a female's cells and the other sex chromosome is missing or structurally altered. Because the SHOX gene is located on the sex chromosomes, most women with Turner syndrome have only one copy of the gene in each cell instead of the usual two copies. Loss of one copy of this gene reduces the amount of SHOX protein that is produced. A shortage of this protein likely contributes to the short stature and skeletal abnormalities (such as unusual rotation of the wrist and elbow joints) often seen in females with this condition.
Growth hormone deficiency (GHD) is a medical condition in which the body does not produce enough growth hormone (GH). Growth hormone, also called somatotropin, is a polypeptide hormone which stimulates growth and cell reproduction.
Growth hormone deficiency has different effects at different ages resulted in growth failure and may feature diminished lean body mass, poor bone density, and a number of physical and psychological symptoms. Psychological symptoms include poor memory, social withdrawal, and depression, while physical symptoms may include loss of strength, stamina, and musculature. Other hormonal or glandular disorders frequently coincide with diminished growth hormone production.
GH deficiency can be treated through growth hormone replacement or injections of growth hormone. GH deficiency is treated by replacing GH with daily injections under the skin or into muscle. Until 1985, growth hormone for treatment was obtained by extraction from human pituitary glands collected at autopsy. Since 1985, recombinant human growth hormone (rHGH) is a recombinant form of human GH produced by genetically engineered bacteria, manufactured by recombinant DNA technology. Costs of treatment in terms of money, effort, and the impact on day-to-day life, are substantial.
A hand and wrist x-ray will provide a view into growth potential as compared to children the same age, and in older children to see if their growth plates have closed. A child’s growth rate (velocity) is more important than actual height. An average child will grow 2 – 2.5 inches per year.
GH treatment is recommended for girls with Turner Syndrome and requires treatment of daily injections of growth hormone once the child drops below the 5th percentile in height. Most pediatric endocrinologists monitor growth and adjust dose every 3–6 months. Treatment is usually extended as long as the child is growing. Treatment is expensive, costing as much as US $10,000 to $40,000 a year in the USA.
Treatment for Turner Syndrome is considered medically necessary for the treatment of Turner Syndrome and is covered by most insurance companies. Industry does provide support to those in need. (see Reimbursement Assistance)
Treatment for short stature in girls with Turner Syndrome will affect many other aspects of this disorder, including the age to initiate estrogen replacement therapy, socialization, and academic achievement.
Measurable Outcomes - TS Growth Chart
Pediatric Edocrine Nursing Society Product Guide - More Information
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