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词条 Absent adrenal gland
释义

  1. Genetics

  2. Diagnosis

  3. Treatment

  4. References

  5. External links

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| caption = This condition indicates absence of a adrenal gland
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Absent adrenal gland is a rare condition where the adrenal gland is absent at birth.[1] It should not be confused with adrenal insufficiency or congenital adrenal hyperplasia, where the gland is present but may not be functioning adequately.

Due to the absence of adrenal cortex, the condition causes extreme symptoms of adrenal insufficiency at birth due to very low levels of aldosterone and cortisol. The adrenal medulla can be normally present, poorly formed, or absent, however even so the effects of circulatory catecholamine deficiency are generally mild (due to sympathetic nervous system compensation), except in episodes of hypoglycemia.[2]

Genetics

SF-1 plays a role in the development of adrenal gland. Single gene polymorphism involving SF-1 gene may have a role in adrenal gland agenesis.[1] Various other factors have also been identified.[3][4][5][6]

Diagnosis

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Treatment

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References

1. ^{{cite journal |vauthors=Vachharajani A, Bethin K, Mouillet JF, Sadovsky Y, Saunders S |title=The rare occurrence of absent adrenals in a term infant: a case report and review of the literature |journal=Am J Perinatol |volume=23 |issue=2 |pages=111–4 |date=February 2006 |pmid=16506117 |doi=10.1055/s-2006-931911 }}
2. ^{{cite journal|last=Fung|first=M. M.|author2=Viveros, O. H.|author3= O’Connor, D. T.|title=Diseases of the adrenal medulla|journal=Acta Physiologica|date=16 November 2007|volume=192|issue=2|pages=325–335|doi=10.1111/j.1748-1716.2007.01809.x|pmc=2576282|pmid=18021328}}
3. ^{{cite journal|last=Else|first=T|author2=Hammer, GD|title=Genetic analysis of adrenal absence: agenesis and aplasia.|journal=Trends in Endocrinology and Metabolism|date=December 2005|volume=16|issue=10|pages=458–468|doi=10.1016/j.tem.2005.10.004|pmid=16275119}}
4. ^{{cite journal|last=Sethuraman|first=C|author2=Parker, MJ|author3=Quarrel, O|author4=Rutter, S|author5=de Krijger, RR|author6=Drut, R|author7= Cohen, MC|title=Bilateral absence of adrenal glands: a case series that expands the spectrum of associations and highlights the difficulties in prenatal diagnosis.|journal=Fetal and Pediatric Pathology|year=2011|volume=30|issue=2|pages=137–43|doi=10.3109/15513815.2010.519573|pmid=21391755}}
5. ^{{cite journal|last=Cohen MM|first=Jr|title=Hedgehog signaling: endocrine gland development and function.|journal=American Journal of Medical Genetics Part A|date=January 2010|volume=152A|issue=1|pages=238–44|pmid=20013843|doi=10.1002/ajmg.a.32917}}
6. ^{{cite journal|last=Pakravan|first=P|author2=Kenny, FM|author3= Depp, R|author4= Allen, AC|title=Familial congenital absence of adrenal glands; evaluation of glucocorticoid, mineralocorticoid, and estrogen metabolism in the perinatal period.|journal=The Journal of Pediatrics|date=January 1974|volume=84|issue=1|pages=74–8|doi=10.1016/S0022-3476(74)80556-1|pmid=12119960}}

External links

{{Medical resources
| DiseasesDB =
| ICD10 = {{ICD10|Q|89|1|q|80}}
| ICD9 = {{ICD9|759.1}}
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  • absent adrenal gland [MP:0005313] on Mammalian Phenotype Browser
{{Congenital endocrine disorders}}

3 : Congenital disorders of endocrine system|Adrenal gland disorders|Rare diseases

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