Growth hormone deficiency causes: Difference between revisions
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==Overview== | ==Overview== | ||
Causes of growth hormone deficiency could be congenital or acquired. Congenital causes include genetic mutations in ''POU1F1'', ''PROP-1'', and ''GH-1 genes. Structural causes can cause growth hormone deficiency such as optic nerve hypoplasia, agenesis of corpus callosum, septo-optic dysplasia, empty sella syndrome, and holoprosencephaly. Acquired causes can cause growth hormone deficiency such as GHD following brain surgery and radiation therapy for brain tumors, central nervous system infection, craniopharyngioma, pituitary adenoma.'' | Causes of growth hormone deficiency could be congenital or acquired. Congenital causes include genetic mutations in ''[[POU1F1]]'', ''[[PROP-1]]'', and ''[[GH-1]] genes. Structural causes can cause growth hormone deficiency such as [[optic nerve hypoplasia]], [[Agenesis of the corpus callosum|agenesis of corpus callosum]], [[septo-optic dysplasia]], [[empty sella syndrome]], and [[holoprosencephaly]]. Acquired causes can cause growth hormone deficiency such as GHD following brain surgery and radiation therapy for brain tumors, central nervous system infection, [[craniopharyngioma]], [[pituitary adenoma]].'' | ||
==Causes== | ==Causes== | ||
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==== '''Structural causes''' ==== | ==== '''Structural causes''' ==== | ||
* GHD is highly likely to be permanent in these patients | * GHD is highly likely to be permanent in these patients | ||
* It is associated with midline craniofacial anomalies causing agenesis of the hypothalamic-pituitary stalk: | * It is associated with midline craniofacial anomalies causing agenesis of the [[hypothalamic-pituitary stalk]]: | ||
* Optic nerve hypoplasia | * [[Optic nerve hypoplasia]] | ||
* Midline facial defects | * [[Midline facial defects]] | ||
* Agenesis of corpus callosum | * [[Agenesis of the corpus callosum|Agenesis of corpus callosum]] | ||
* Arachnoid cyst | * [[Arachnoid cyst]] | ||
* Holoprosencephaly | * [[Holoprosencephaly]] | ||
* Septo-optic dysplasia | * [[Septo-optic dysplasia]] | ||
* Encephalocele | * [[Encephalocele]] | ||
* Empty sella syndrome | * [[Empty sella syndrome]] | ||
* | * [[Hydrocephalus]] | ||
=== '''Acquired growth hormone deficiency'''<ref name="pmid21602453" /> === | === '''Acquired growth hormone deficiency'''<ref name="pmid21602453" /> === | ||
* 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. | ||
* Central nervous system infection | * Central nervous system infection | ||
* | * [[Pituitary adenoma]] | ||
* [[Craniopharyngioma]] | |||
* Craniopharyngioma | * [[Rathke’s cleft|Rathke’s cleft cyst]] | ||
* Rathke’s cleft cyst | * [[Glioma]]/[[astrocytoma]] | ||
* Glioma/astrocytoma | * [[Germinoma]] | ||
* Germinoma | * Infiltrative/[[Granulomatous|granulomatous disease]]: | ||
* Infiltrative/granulomatous disease: | * [[Langerhans cell histiocytosis]] | ||
* Langerhans cell histiocytosis | * [[Sarcoidosis]] | ||
* Sarcoidosis | * [[Tuberculosis]] | ||
* Tuberculosis | * [[Hypophysitis]] | ||
* Hypophysitis | * Surgery of the [[Pituitary gland|pituitary]] or [[hypothalamus]] | ||
* Surgery of the pituitary or hypothalamus | * [[Infarction]] | ||
* Infarction | * [[Sheehan's syndrome|Sheehan’s syndrome]] | ||
* | * [[Idiopathic]] | ||
* Idiopathic | |||
==== '''Laron syndrome''' ==== | ==== '''[[Laron syndrome]]''' ==== | ||
* Growth hormone insensitivity is a reduction in or absence of the biological effects of growth hormone despite normal or above normal production and secretion of GH. | * Growth hormone insensitivity is a reduction in or absence of the biological effects of growth hormone despite normal or above normal production and secretion of GH. | ||
* These disorders are characterized by growth failure and normal or increased circulating levels of GH, in contrast with GH deficiency. | * These disorders are characterized by growth failure and normal or increased circulating levels of GH, in contrast with GH deficiency. | ||
| Line 60: | Line 57: | ||
* 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. | ||
* | * [[Hyperlipoproteinemia|Hyperlipidemia]] and episodes of hypoglycemia Data are conflicting on the risk of insulin resistance. | ||
== References == | == References == | ||
<references /> | <references /> | ||
Revision as of 19:48, 14 August 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Causes of growth hormone deficiency could be congenital or acquired. Congenital causes include genetic mutations in POU1F1, PROP-1, and GH-1 genes. Structural causes can cause growth hormone deficiency such as optic nerve hypoplasia, agenesis of corpus callosum, septo-optic dysplasia, empty sella syndrome, and holoprosencephaly. Acquired causes can cause growth hormone deficiency such as GHD following brain surgery and radiation therapy for brain tumors, central nervous system infection, craniopharyngioma, pituitary adenoma.
Causes
Congenital growth hormone deficiency:
Genetic causes
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. PROP1 mutations result in failure to activate POU1F1/Pit1 gene expression and probably cause pituitary hypoplasia and familial multiple pituitary hormone deficiencies.
- Mutations of GH1 which is the gene encoding GH.
- Gene deletions, frameshift mutations, and nonsense mutations of GH1 have been described as causes of familial GHD.
Structural causes
- GHD is highly likely to be permanent in these patients
- It is associated with midline craniofacial anomalies causing agenesis of the hypothalamic-pituitary stalk:
- Optic nerve hypoplasia
- Midline facial defects
- Agenesis of corpus callosum
- Arachnoid cyst
- Holoprosencephaly
- Septo-optic dysplasia
- Encephalocele
- Empty sella syndrome
- Hydrocephalus
Acquired growth hormone deficiency[1]
- GHD following brain surgery and radiation therapy for brain tumors. Permanent GHD is highly likely to be permanent in infants or young children.
- Central nervous system infection
- Pituitary adenoma
- Craniopharyngioma
- Rathke’s cleft cyst
- Glioma/astrocytoma
- Germinoma
- Infiltrative/granulomatous disease:
- Langerhans cell histiocytosis
- Sarcoidosis
- Tuberculosis
- Hypophysitis
- Surgery of the pituitary or hypothalamus
- Infarction
- Sheehan’s syndrome
- Idiopathic
Laron syndrome
- Growth hormone insensitivity is a reduction in or absence of the biological effects of growth hormone despite normal or above normal production and secretion of GH.
- These disorders are characterized by growth failure and normal or increased circulating levels of GH, in contrast with GH deficiency.
- 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.
References
- ↑ Invalid
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