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Growth hormone deficiency

Growth hormone deficiency is the medical condition of inadequate production of growth hormone (GH) and its effects on children and adults. Growth hormone, also called somatotropin, is a polypeptide hormone which stimulates growth and cell reproduction. See separate articles on GH physiology and GH treatment. more...

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Deficiency of GH produces significantly different problems at various ages. In newborn infants the primary manifestations may be hypoglycemia or micropenis. In later infancy and childhood, growth failure may be major effect. Adults with growth hormone deficiency may have diminished lean body mass and poor bone density and a number of physical and psychological symptoms.

GH deficiency can be congenital or acquired in childhood or adult life. It can be partial or complete. It is usually permanent, but sometimes transient. It may be an isolated deficiency or occur in association with deficiencies of other pituitary hormones.

GH deficiency is treated by growth hormone replacement.


The term hypopituitarism is often used interchangeably with GH deficiency by endocrinologists but more often denotes GH deficiency plus deficiency of at least one other anterior pituitary hormone. When GH deficiency (usually with other anterior pituitary deficiencies) is associated with posterior pituitary hormone deficiency (usually diabetes insipidus) the condition is termed panhypopituitarism.

HGH also refers to human growth hormone but this older abbreviation has begun to develop paradoxical connotations (see fuller discussion of HGH in GH treatment and HGH quackery).

Causes of GH deficiency

There are many causes of GH deficiency. Some examples include:

  • mutations of specific genes (e.g., GHRHR, GH1)
  • congenital malformations involving the pituitary (e.g., septo-optic dysplasia, posterior pituitary ectopia)
  • damage to the pituitary from incracranial disease (e.g., hydrocephalus),
  • intracranial tumors in or near the sella turcica, especially craniopharyngioma,
  • damage to the pituitary from radiation therapy to the head for leukemia or brain tumors,
  • surgery in the area of the pituitary,
  • autoimmune inflammation (hypophysitis),
  • severe head trauma,
  • ischemic or hemorrhagic infarction from low blood pressure (Sheehan syndrome) or hemorrhage pituitary apoplexy.

Many cases of isolated growth hormone deficiency (IGHD) recognized in childhood are idiopathic. IGHD has been reported to affect about 1 in 4000 children, but IGHD is difficult to distinguish from other causes of shortness such as constitutional delay, and the true incidence is unsettled.

Severe prenatal deficiency of GH, as occurs in congenital hypopituitarism, has little effect on fetal growth. However, prenatal and congenital deficiency can reduce the size of a male's penis, especially when gonadotropins are also deficient. Besides micropenis, additional consequences of severe deficiency in the first days of life can include hypoglycemia and exaggerated jaundice (both direct and indirect hyperbilirubinemia). Female infants will lack the microphallus of course but may suffer from hypoglycemia and jaundice.


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Laboratory assessment of growth hormone deficiency - Tips from Other Journals
From American Family Physician, 5/15/97 by Richard Sadovsky

The efficacy of existing laboratory testing for the diagnosis of childhood growth hormone deficiency needs clarification. Growth hormone stimulation tests are widely used; however, they are associated with a high false-positive rate. Serum insulin-like growth factor I (IGF-I) levels are low in children with growth hormone deficiency but can overlap levels in short normal and normal children. The specificity of this test alone is only 54 percent. Insulin-like growth factor-binding protein-3 (IGFBP-3), the major serum carrier protein for circulating insulin-like growth factors, is regulated by growth hormones and has been reported as having good sensitivity and specificity for the diagnosis of growth hormone deficiency in some studies and poor performance in others. Clinical evaluation remains the most important aspect of assessment in growth disorders. Tillmann and associates compared the value of growth hormone stimulation tests with that of a single serum IGF-I level, IGFBP-3 level and urinary growth hormone level, using the clinical diagnosis of growth disorder as the base standard.

Two groups of children, one with clinically suspected growth hormone deficiency and another with simple short stature, underwent a growth hormone stimulation test and analysis of serum IGF-I and IGFBP-3 concentrations. Urinary growth hormone was measured by an overnight sample collected in the morning.

Using the clinical evaluation (based on history, physical examination and growth parameters) as the "gold standard," a single peak growth hormone concentration using a cut-off of 7.5 ng per mL (7.5 [micro]g per L) proved to have the highest efficiency (81 percent) of all the tests. However, the test had a false-positive rate of 15 percent and a false-negative rate of 27 percent. The alternative tests, when used alone proved less reliable.

An IGFBP-3 level had a high specificity (92 percent) but a poor sensitivity. The finding of a low IGFBP-3 seemed to be highly suggestive of growth hormone deficiency; however, a significant number of children with a definitive diagnosis of growth hormone deficiency had normal IGFBP-3 concentrations.

The authors conclude that a single growth hormone test is the best biochemical tool to evaluate children with growth failure, but it can be more effective when combined with a single serum IGF-I and IGFBP-3 measurement in children whose peak growth hormone levels fall below 10 ng per mL (10 [micro]g per L).

Tillmann V, et al. Biochemical tests in the diagnosis of childhood growth hormone deficiency. J Clin Endocrinol Metab 1997:82:531-5.

COPYRIGHT 1997 American Academy of Family Physicians
COPYRIGHT 2004 Gale Group

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