Absent adrenal gland: Difference between revisions

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{{Infobox medical condition (new)
 
| name           = Absent adrenal gland
{{Infobox medical condition
| synonyms        =
| name = Absent Adrenal Gland
| image           = File:Illu adrenal gland.jpg
| image = <!-- Image removed -->
| caption         = This condition indicates absence of a adrenal gland
| caption = <!-- Image caption -->
| pronounce      =  
| field = [[Endocrinology]]
| field           =
| symptoms = [[Adrenal insufficiency]], [[hypotension]], [[hypoglycemia]]
| symptoms       =  
| complications = [[Adrenal crisis]]
| complications   =  
| onset = Congenital
| onset           =  
| duration = Lifelong
| duration       =
| causes = [[Congenital adrenal hyperplasia]], [[genetic mutations]]
| types          =  
| diagnosis = [[Imaging studies]], [[hormonal assays]]
| causes         =
| treatment = [[Hormone replacement therapy]]
| risks          =  
| frequency = Rare
| diagnosis       =
| differential    =
| prevention      =  
| treatment       =
| medication      =
| prognosis      =  
| frequency       =
| deaths          =  
}}
}}
'''Absent adrenal gland''' is a rare condition where the [[adrenal gland]] is absent at birth.<ref name="pmid16506117">{{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 }}</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>{{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}}</ref>
The '''absent adrenal gland''' is a rare congenital condition characterized by the complete absence of one or both [[adrenal glands]]. The adrenal glands are small, triangular-shaped glands located on top of each [[kidney]]. They are responsible for producing essential hormones such as [[cortisol]], [[aldosterone]], and [[adrenaline]].
 
== Causes ==
The absence of adrenal glands can be due to several factors, including:
* [[Congenital adrenal hyperplasia]]: A group of genetic disorders affecting adrenal gland development.
* Genetic mutations: Mutations in genes responsible for adrenal gland formation can lead to their absence.
* Developmental anomalies: Issues during fetal development can result in the absence of adrenal glands.
 
== Symptoms ==
Individuals with absent adrenal glands may experience symptoms related to [[adrenal insufficiency]], such as:
* [[Hypotension]] (low blood pressure)
* [[Hypoglycemia]] (low blood sugar levels)
* [[Fatigue]]
* [[Muscle weakness]]
* [[Weight loss]]
 
== Complications ==
A significant complication of absent adrenal glands is the risk of an [[adrenal crisis]], a life-threatening condition that requires immediate medical attention. Symptoms of an adrenal crisis include severe [[vomiting]], [[diarrhea]], [[dehydration]], and [[shock]].
 
== Diagnosis ==
Diagnosis of absent adrenal glands typically involves:
* [[Imaging studies]]: Such as [[ultrasound]] or [[MRI]] to visualize the adrenal glands.
* [[Hormonal assays]]: Blood tests to measure levels of adrenal hormones.
 
== Treatment ==
The primary treatment for absent adrenal glands is [[hormone replacement therapy]] to compensate for the hormones that the adrenal glands would normally produce. This may include:
* [[Glucocorticoids]] (e.g., [[hydrocortisone]])
* [[Mineralocorticoids]] (e.g., [[fludrocortisone]])


==Genetics==
== See also ==
[[Steroidogenic factor 1|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">{{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}}</ref><ref name="pmid21391755">{{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}}</ref><ref name="pmid20013843">{{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}}</ref><ref name="pmid12119960">{{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}}</ref><!-- Contents can be added from these three links-->
* [[Adrenal gland disorders]]
==Diagnosis==
* [[Endocrine system]]
{{Empty section|date=November 2017}}
* [[Hormone replacement therapy]]
==Treatment==
{{Empty section|date=November 2017}}


==References==
== References ==
{{Reflist}}
{{Reflist}}


== External links ==
== External links ==
{{Medical resources
* [https://www.wikimd.com/wiki/Adrenal_gland Wikimd - Adrenal gland]
|  DiseasesDB    = 
* [https://www.wikimd.com/wiki/Adrenal_insufficiency Wikimd - Adrenal insufficiency]
|  ICD10          = {{ICD10|Q|89|1|q|80}}
|  ICD9          = {{ICD9|759.1}}
|  ICDO          = 
|  OMIM          = 
|  MedlinePlus    = 
|  eMedicineSubj  = 
|  eMedicineTopic = 
|  MeshID        =
}}
* [http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005313 absent adrenal gland &#91;MP:0005313&#93;] on Mammalian Phenotype Browser
 
{{Congenital endocrine disorders}}


[[Category:Congenital disorders of endocrine system]]
[[Category:Endocrine disorders]]
[[Category:Adrenal gland disorders]]
[[Category:Congenital disorders]]
[[Category:Rare diseases]]
[[Category:Rare diseases]]
{{dictionary-stub1}}

Revision as of 17:24, 27 December 2024


Absent Adrenal Gland
Synonyms N/A
Pronounce N/A
Specialty N/A
Symptoms Adrenal insufficiency, hypotension, hypoglycemia
Complications Adrenal crisis
Onset Congenital
Duration Lifelong
Types N/A
Causes Congenital adrenal hyperplasia, genetic mutations
Risks N/A
Diagnosis Imaging studies, hormonal assays
Differential diagnosis N/A
Prevention N/A
Treatment Hormone replacement therapy
Medication N/A
Prognosis N/A
Frequency Rare
Deaths N/A


The absent adrenal gland is a rare congenital condition characterized by the complete absence of one or both adrenal glands. The adrenal glands are small, triangular-shaped glands located on top of each kidney. They are responsible for producing essential hormones such as cortisol, aldosterone, and adrenaline.

Causes

The absence of adrenal glands can be due to several factors, including:

  • Congenital adrenal hyperplasia: A group of genetic disorders affecting adrenal gland development.
  • Genetic mutations: Mutations in genes responsible for adrenal gland formation can lead to their absence.
  • Developmental anomalies: Issues during fetal development can result in the absence of adrenal glands.

Symptoms

Individuals with absent adrenal glands may experience symptoms related to adrenal insufficiency, such as:

Complications

A significant complication of absent adrenal glands is the risk of an adrenal crisis, a life-threatening condition that requires immediate medical attention. Symptoms of an adrenal crisis include severe vomiting, diarrhea, dehydration, and shock.

Diagnosis

Diagnosis of absent adrenal glands typically involves:

Treatment

The primary treatment for absent adrenal glands is hormone replacement therapy to compensate for the hormones that the adrenal glands would normally produce. This may include:

See also

References

External links

Retrieved from "https://wikimd.org/index.php?title=Absent_adrenal_gland&oldid=6079113"