Medicine:Absent adrenal gland
| Absent adrenal gland | |
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| This condition indicates absence of a adrenal gland |
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
Treatment
References
- ↑ 1.0 1.1 "The rare occurrence of absent adrenals in a term infant: a case report and review of the literature". Am J Perinatol 23 (2): 111–4. February 2006. doi:10.1055/s-2006-931911. PMID 16506117.
- ↑ Fung, M. M.; Viveros, O. H.; O’Connor, D. T. (16 November 2007). "Diseases of the adrenal medulla". Acta Physiologica 192 (2): 325–335. doi:10.1111/j.1748-1716.2007.01809.x. PMID 18021328.
- ↑ Else, T; Hammer, GD (December 2005). "Genetic analysis of adrenal absence: agenesis and aplasia.". Trends in Endocrinology and Metabolism 16 (10): 458–468. doi:10.1016/j.tem.2005.10.004. PMID 16275119.
- ↑ Sethuraman, C; Parker, MJ; Quarrel, O; Rutter, S; de Krijger, RR; Drut, R; Cohen, MC (2011). "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 30 (2): 137–43. doi:10.3109/15513815.2010.519573. PMID 21391755.
- ↑ Cohen MM, Jr (January 2010). "Hedgehog signaling: endocrine gland development and function.". American Journal of Medical Genetics Part A 152A (1): 238–44. doi:10.1002/ajmg.a.32917. PMID 20013843.
- ↑ Pakravan, P; Kenny, FM; Depp, R; Allen, AC (January 1974). "Familial congenital absence of adrenal glands; evaluation of glucocorticoid, mineralocorticoid, and estrogen metabolism in the perinatal period.". The Journal of Pediatrics 84 (1): 74–8. doi:10.1016/S0022-3476(74)80556-1. PMID 12119960.
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