Absent adrenal gland

Absent adrenal gland
This condition indicates absence of a adrenal gland
Specialty	Medical genetics

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]}

References

1. 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.
2. 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.
3. 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.
4. 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.
5. 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.
6. 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.