Absent adrenal gland

Absent adrenal gland
File:File:Illu adrenal gland.jpg
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Absent adrenal gland is a rare condition where the adrenal gland is absent at birth.<ref name="pmid16506117">,

 The rare occurrence of absent adrenals in a term infant: a case report and review of the literature, 
 Am J Perinatol, 
 
 Vol. 23(Issue: 2),
 pp. 111–4,
 DOI: 10.1055/s-2006-931911,
 PMID: 16506117,</ref> 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.<ref>Fung, M. M.,

 Diseases of the adrenal medulla, 
 Acta Physiologica, 
 
 Vol. 192(Issue: 2),
 pp. 325–335,
 DOI: 10.1111/j.1748-1716.2007.01809.x,
 PMID: 18021328,
 PMC: 2576282,</ref>

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.<ref name="pmid16506117" /> Various other factors have also been identified.<ref name="pmid16275119">Else, T,

 Genetic analysis of adrenal absence: agenesis and aplasia., 
 Trends in Endocrinology and Metabolism, 
 
 Vol. 16(Issue: 10),
 pp. 458–468,
 DOI: 10.1016/j.tem.2005.10.004,
 PMID: 16275119,</ref><ref name="pmid21391755">Sethuraman, C, 
 Bilateral absence of adrenal glands: a case series that expands the spectrum of associations and highlights the difficulties in prenatal diagnosis., 
 Fetal and Pediatric Pathology, 
 2011,
 Vol. 30(Issue: 2),
 pp. 137–43,
 DOI: 10.3109/15513815.2010.519573,
 PMID: 21391755,</ref><ref name="pmid20013843">Cohen MM, Jr, 
 Hedgehog signaling: endocrine gland development and function., 
 American Journal of Medical Genetics Part A, 
 
 Vol. 152A(Issue: 1),
 pp. 238–44,
 DOI: 10.1002/ajmg.a.32917,
 PMID: 20013843,</ref><ref name="pmid12119960">Pakravan, P, 
 Familial congenital absence of adrenal glands; evaluation of glucocorticoid, mineralocorticoid, and estrogen metabolism in the perinatal period., 
 The Journal of Pediatrics, 
 
 Vol. 84(Issue: 1),
 pp. 74–8,
 DOI: 10.1016/S0022-3476(74)80556-1,
 PMID: 12119960,</ref>

External links

• absent adrenal gland [MP:0005313] on Mammalian Phenotype Browser

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