Growth hormone deficiency causes: Difference between revisions
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==== Genetic ==== | ==== Genetic ==== | ||
It is usually recognized by the presence of affected relatives and confirmed by molecular testing for the causative genes, which include ''POU1F1'', ''PROP-1'', and ''GH-1:'' | It is usually recognized by the presence of affected relatives and confirmed by molecular testing for the causative genes, which include ''POU1F1'', ''PROP-1'', and ''GH-1:'' | ||
* The ''POU1F1'' gene is responsible for pituitary-specific transcription of genes for GH, prolactin, thyrotropin, and the growth hormone releasing hormone (GHRH) receptor [11,12]. ''PROP1'' mutations result in failure to activate ''POU1F1/Pit1'' gene expression and probably cause pituitary hypoplasia and/or familial multiple pituitary hormone deficiencies. | * The ''POU1F1'' gene is responsible for pituitary-specific transcription of genes for GH, prolactin, thyrotropin, and the growth hormone releasing hormone (GHRH) receptor [11,12]. ''PROP1'' mutations result in failure to activate ''POU1F1/Pit1'' gene expression and probably cause pituitary hypoplasia and/or familial multiple pituitary hormone deficiencies. | ||
* Deletions and mutations of ''GH1'' are the gene encoding GH, located on chromosome 17. Gene deletions, frameshift mutations, and nonsense mutations of ''GH1'' have been described as causes of familial GHD. | * Deletions and mutations of ''GH1'' are the gene encoding GH, located on chromosome 17. Gene deletions, frameshift mutations, and nonsense mutations of ''GH1'' have been described as causes of familial GHD. | ||
==== '''Structural causes''' ==== | ==== '''Structural causes''' ==== | ||
It is associated with midline craniofacial anomalies such as optic nerve hypoplasia causing agenesis of the hypothalamic-pituitary stalk. GHD is highly likely to be permanent in these patients. | It is associated with midline craniofacial anomalies such as optic nerve hypoplasia causing agenesis of the hypothalamic-pituitary stalk. GHD is highly likely to be permanent in these patients. | ||
==== '''Organic causes''' ==== | ==== '''Organic causes''' ==== | ||
GHD following brain surgery and radiation therapy for brain tumors. Permanent GHD is highly likely to be permanent in infants or young children. | GHD following brain surgery and radiation therapy for brain tumors. Permanent GHD is highly likely to be permanent in infants or young children. | ||
=== Adult growth hormone deficiency | === Adult growth hormone deficiency === | ||
* Treatment of a pituitary tumor including surgery and/or radiation | * Treatment of a pituitary tumor including surgery and/or radiation | ||
* An extra-pituitary tumor for example craniopharyngioma | * An extra-pituitary tumor for example craniopharyngioma | ||
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==== '''Laron syndrome''' ==== | ==== '''Laron syndrome''' ==== | ||
* It is the most common known cause of genetically-mediated GHI. | * It is the most common known cause of genetically-mediated GHI. | ||
* is characterized by severe postnatal growth failure. | * is characterized by severe postnatal growth failure. | ||
* It is caused by homozygous or | * It is caused by homozygous or compounds heterozygous mutations in the growth hormone (GH) receptor gene; a variety of mutations have been identified, most of which affect the extracellular GH-binding region of the receptor. | ||
* reflected by IGF-I and insulin-like growth factor-binding protein 3 (IGFBP-3) levels. | * reflected by IGF-I and insulin-like growth factor-binding protein 3 (IGFBP-3) levels. | ||
* Adult height does not correlate with genotype or with measures of height in family members. | * Adult height does not correlate with genotype or with measures of height in family members. | ||
* hyperlipidemia and episodes of hypoglycemia Data are conflicting on the risk of insulin resistance. | * hyperlipidemia and episodes of hypoglycemia Data are conflicting on the risk of insulin resistance. | ||
== References == | |||
<references /> | |||
Revision as of 19:45, 8 August 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Causes
Congenital growth hormone deficiency:
Genetic
It is usually recognized by the presence of affected relatives and confirmed by molecular testing for the causative genes, which include POU1F1, PROP-1, and GH-1:
- The POU1F1 gene is responsible for pituitary-specific transcription of genes for GH, prolactin, thyrotropin, and the growth hormone releasing hormone (GHRH) receptor [11,12]. PROP1 mutations result in failure to activate POU1F1/Pit1 gene expression and probably cause pituitary hypoplasia and/or familial multiple pituitary hormone deficiencies.
- Deletions and mutations of GH1 are the gene encoding GH, located on chromosome 17. Gene deletions, frameshift mutations, and nonsense mutations of GH1 have been described as causes of familial GHD.
Structural causes
It is associated with midline craniofacial anomalies such as optic nerve hypoplasia causing agenesis of the hypothalamic-pituitary stalk. GHD is highly likely to be permanent in these patients.
Organic causes
GHD following brain surgery and radiation therapy for brain tumors. Permanent GHD is highly likely to be permanent in infants or young children.
Adult growth hormone deficiency
- Treatment of a pituitary tumor including surgery and/or radiation
- An extra-pituitary tumor for example craniopharyngioma
- Sheehan syndrome
Laron syndrome
- It is the most common known cause of genetically-mediated GHI.
- is characterized by severe postnatal growth failure.
- It is caused by homozygous or compounds heterozygous mutations in the growth hormone (GH) receptor gene; a variety of mutations have been identified, most of which affect the extracellular GH-binding region of the receptor.
- reflected by IGF-I and insulin-like growth factor-binding protein 3 (IGFBP-3) levels.
- Adult height does not correlate with genotype or with measures of height in family members.
- hyperlipidemia and episodes of hypoglycemia Data are conflicting on the risk of insulin resistance.