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Growth hormone deficiencyDefinition Growth hormone deficiency involves abnormally short stature with normal body proportions. Growth hormone deficiency can be categorized as either congenital (present at birth) or acquired. Causes, incidence, and risk factors An abnormally short height in childhood may occur if the pituitary gland does not produce enough growth hormone . It can be caused by a variety of genetic mutations (such as Pit-1 gene, Prop-1 gene, growth hormone receptor gene, growth hormone gene), absence of the pituitary gland, or severe brain injury, but in most cases no underlying cause of the deficiency is found. Growth retardation may become evident in infancy and persist throughout childhood. The child's "growth curve," which is usually plotted on a standardized growth chart by the pediatrician, may range from flat (no growth) to very shallow (minimal growth). Normal puberty may or may not occur, depending on the degree to which the pituitary can produce adequate hormone levels other than growth hormone. Growth hormone deficiency may be associated with deficiencies of other hormones, including the following:
Physical defects of the face and skull can also be associated with abnormalities of the pituitary or pituitary function. A small percentage of infants with cleft lip and cleft palate have decreased growth hormone levels. Symptoms
Signs and tests A physical examination including weight, height, and body proportions will show signs of slowed growth rate and deviation from normal growth curves. Tests include the following:
Treatment Synthetic growth hormone can be used for children with growth hormone deficiency. This treatment requires the assistance of a pediatric endocrinologist. Treatment with synthetic (recombinant) human growth hormone is generally considered to be safe, with rare side effects. If the deficiency is an isolated growth hormone deficiency, synthetic growth hormone is given alone. If the deficiency is not isolated, other hormone replacement preparations will be required as well. Expectations (prognosis) Growth rates are improved in most children treated with growth hormones, although the effectiveness may decrease with prolonged treatment. Complications If left untreated, extremely short stature and delayed puberty will result from this condition. In the past, some patients acquired Creutzfeldt-Jacob disease (the human form of "mad cow" disease) from human-derived growth hormone that was used to treat growth deficiencies. This medication has been removed from the market. Synthetic growth hormone is used instead and carries no risk of infectious disease. Calling your health care provider Call your health care provider if your child seems abnormally short for his or her age. Prevention Most cases are not preventable. Illustrations
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