Growth Disorders - Research Article from Macmillan Science Library: Genetics

This encyclopedia article consists of approximately 5 pages of information about Growth Disorders.
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Endocrine Disorders

Growth hormone (GH) is produced by the pituitary gland at the base of the brain and is a major regulator of growth. Deficiency of the hormone is the prototype of the inherited endocrine disorders of growth. Although normal in size at birth, infants with GH deficiency exhibit severe postnatal growth deficiency while maintaining normal body proportions. If untreated, children typically have a "baby-doll" facial appearance and a high-pitched voice that persists after puberty.

Isolated GH deficiency most often results from deletion of all or part of the GH gene. Humans carry two copies of the GH gene, but having just one good copy is usually sufficient to prevent GH deficiency. Thus, this disorder is inherited as an autosomal recessive trait. Rarely, point mutations of this gene can lead to a dominantly inherited form of GH deficiency, in which the product of the mutant GH allele is...

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This section contains 1,458 words
(approx. 5 pages at 300 words per page)
Buy the Growth Disorders Encyclopedia Article
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Macmillan Science Library: Genetics
Growth Disorders from Macmillan Science Library: Genetics. Copyright © 2001-2006 by Macmillan Reference USA, an imprint of the Gale Group. All rights reserved.
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