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.
| Absent adrenal gland | |
|---|---|
 | |
| This condition indicates absence of a adrenal gland | |
| Specialty | Medical genetics  |
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
editSF-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
edit- ^ a b Vachharajani, Akshaya; Bethin, Kathleen; Mouillet, Jean-Francois; Sadovsky, Yoel; Saunders, Scott (2006). "The Rare Occurrence of Absent Adrenals in a Term Infant: A Case Report and Review of the Literature". American Journal of Perinatology (in German). 23 (02): 111–114. doi:10.1055/s-2006-931911. ISSN 0735-1631. PMID 16506117. S2CID 260001177.
- ^ Fung, Maple M.; Viveros, O. Humberto; O'Connor, Daniel T. (16 November 2007). "Diseases of the adrenal medulla". Acta Physiologica. 192 (2): 325–335. doi:10.1111/j.1748-1716.2007.01809.x. PMC 2576282. PMID 18021328.
- ^ Else, Tobias; Hammer, Gary Douglas (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. S2CID 32644554.
- ^ Sethuraman, Chitralekha; Parker, Michael James; Quarrel, Oliver; Rutter, Susan; de Krijger, Ronald; Drut, Ricardo; Cohen, Marta Cecilia (10 March 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. S2CID 19435202.
- ^ Cohen, M. Michael 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. S2CID 878642.
- ^ Pakravan, Parvin; Kenny, Frederic M.; Depp, Richard; Allen, Alexander C. (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.