Congenital adrenal hyperplasia historical perspective: Difference between revisions

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{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}
{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}


==Overview==
==Overview==
[[Congenital adrenal hyperplasia]] was first discovered by Luigi De Crecchio, an Italian pathologist in 1865. Explanation of hormonal aspects and molecular characteristics remained unclear until 1980. From 1980 scientists started to describe enzymes and molecular basis of 21-hydroxyase deficiency.
[[Congenital adrenal hyperplasia]] was first discovered by Luigi De Crecchio, an Italian [[pathologist]] in 1865. Explanation of hormonal aspects and [[Molecular|molecular characteristics]] remained unclear until 1980. From 1980 scientists started to describe [[enzymes]] and molecular basis of 21-hydroxyase deficiency.


==Discovery==
==Discovery==
* Congenital adrenal hyperplasia due to 21-hydroxilase deficiency first time seen in 1865 by Luigi De Crecchio, an Italian pathologist, in a man at autopsy, who had large adrenal glands and female internal organs.  
* 21-hydroxylase deficiency first time seen in 1865 by Luigi De Crecchio, an Italian [[pathologist]], in a man at autopsy, who had large [[adrenal glands]] and female [[internal organs]].  


* Important aspects of discovering adrenal hormones and diseased include congenital adrenal hyperplasia below:<ref name="pmid25635623">{{cite journal |vauthors=Delle Piane L, Rinaudo PF, Miller WL |title=150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio's classic paper from 1865 |journal=Endocrinology |volume=156 |issue=4 |pages=1210–7 |year=2015 |pmid=25635623 |doi=10.1210/en.2014-1879 |url=}}</ref><ref name="ISBN:978-0323297387">{{cite book | last = Melmed | first = Shlomo | title = Williams textbook of endocrinology | publisher = Elsevier | location = Philadelphia, PA | year = 2016 | isbn = 978-0323297387 }}=</ref><ref name="pmid18118071">{{cite journal |vauthors=HENCH PS, KENDALL EC |title=The effect of a hormone of the adrenal cortex (17-hydroxy-11-dehydrocorticosterone; compound E) and of pituitary adrenocorticotropic hormone on rheumatoid arthritis |journal=Proc Staff Meet Mayo Clin |volume=24 |issue=8 |pages=181–97 |year=1949 |pmid=18118071 |doi= |url=}}</ref><ref name="pmid4288776">{{cite journal |vauthors=Biglieri EG, Herron MA, Brust N |title=17-hydroxylation deficiency in man |journal=J. Clin. Invest. |volume=45 |issue=12 |pages=1946–54 |year=1966 |pmid=4288776 |pmc=292880 |doi=10.1172/JCI105499 |url=}}</ref>
* Important aspects of discovering [[adrenal]] hormones:<ref name="pmid25635623">{{cite journal |vauthors=Delle Piane L, Rinaudo PF, Miller WL |title=150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio's classic paper from 1865 |journal=Endocrinology |volume=156 |issue=4 |pages=1210–7 |year=2015 |pmid=25635623 |doi=10.1210/en.2014-1879 |url=}}</ref><ref name="ISBN:978-0323297387">{{cite book | last = Melmed | first = Shlomo | title = Williams textbook of endocrinology | publisher = Elsevier | location = Philadelphia, PA | year = 2016 | isbn = 978-0323297387 }}=</ref><ref name="pmid18118071">{{cite journal |vauthors=HENCH PS, KENDALL EC |title=The effect of a hormone of the adrenal cortex (17-hydroxy-11-dehydrocorticosterone; compound E) and of pituitary adrenocorticotropic hormone on rheumatoid arthritis |journal=Proc Staff Meet Mayo Clin |volume=24 |issue=8 |pages=181–97 |year=1949 |pmid=18118071 |doi= |url=}}</ref><ref name="pmid4288776">{{cite journal |vauthors=Biglieri EG, Herron MA, Brust N |title=17-hydroxylation deficiency in man |journal=J. Clin. Invest. |volume=45 |issue=12 |pages=1946–54 |year=1966 |pmid=4288776 |pmc=292880 |doi=10.1172/JCI105499 |url=}}</ref>
** In 1563, Eustachius described the adrenals and then published by Lancisi in 1714.
** In 1563, Eustachius described the [[Adrenal|adrenals]] and then published by Lancisi in 1714.
** In 1849, Thomas Addison, found on a bronzed appearance associated with the adrenal glands called melasma suprarenale while searching for the cause of pernicious anemia.
** In 1849, [[Thomas Addison]], found on a bronzed appearance associated with the [[adrenal glands]] called [[melasma]] suprarenale while searching for the cause of [[pernicious anemia]].
** In 1855, Thomas Addison defined the clinical features and autopsy findings in 11 cases of diseases of the suprarenal capsules, and half of them were tuberculous in origin.
** In 1855, [[Thomas Addison]] defined the clinical features and [[autopsy]] findings in 11 cases of diseases of the [[suprarenal]] capsules, and half of them were [[tuberculous]] in origin.
** In 1856, In adrenalectomy experiments, Brown-Séquard found that the adrenal glands are nessesary for life.  
** In 1856, In [[adrenalectomy]] experiments, [[Brown-Sequard syndrome|Brown-Séquard]] found that the [[adrenal glands]] are nessesary for life.  
** In 1896, William Osler prepared an oral glycerin extract derived from pig adrenals and showed that it had clinical benefit in patients with Addison disease.  
** In 1896, [[William Osler]] prepared an oral glycerin extract derived from pig [[Adrenal|adrenals]] and showed that it had clinical benefit in patients with [[Addison disease]].  
** In 1905, Bulloch and Sequeira described patients with congenital adrenal hyperplasia.  
** In 1905, Bulloch and Sequeira described patients with [[congenital adrenal hyperplasia]].  
** In 1936, Selye described the concept of stress and its effect on pituitary-adrenal function.  
** In 1936, Selye described the concept of stress and its effect on [[pituitary]]-[[adrenal]] function.  
** In 1937-1952, Kendall and Reichstein, defined the Isolation and structural characterization of adrenocortical hormones.  
** In 1937-1952, Kendall and Reichstein, defined the isolation and structural characterization of [[Adrenocortical hormone|adrenocortical hormones]].  
** In 1943, Li and colleagues isolated adrenocorticotropic hormone from sheep pituitary.
** In 1943, Li and colleagues isolated [[adrenocorticotropic hormone]] from sheep [[pituitary]].
** In 1950, Hench, Kendall, and Reichstein shared the Nobel Prize in Medicine for describing the anti-inflammatory effects of cortisone in patients with rheumatoid arthritis
** In 1950, Hench, Kendall, and Reichstein shared the [[Nobel Prize in Medicine]] for describing the [[anti-inflammatory]] effects of [[cortisone]] in patients with [[rheumatoid arthritis]]
** In 1956, Conn described primary aldosteronism.  
** In 1956, Conn described [[primary aldosteronism]].  
** In 1981, Vale defined characterization and synthesis of corticotropin-releasing hormone.  
** In 1981, Vale defined characterization and synthesis of [[corticotropin-releasing hormone]].  
** From 1980-present called the molecular era; highlights in this section are:
** From 1980-present called the molecular era; highlights in this section are:
*** Cloning and functional characterization of steroid receptors discovered.
*** Cloning and functional characterization of [[Steroid hormone receptor|steroid hormone receptors]] discovered.
*** Steroidogenic enzymes described.
*** [[Steroidogenic]] [[enzymes]] described.
*** Adrenal transcription factors were reported.
*** [[Adrenal]] [[transcription factors]] were reported.
*** Molecular basis for human adrenal diseases described.
*** [[Molecular]] basis for human adrenal diseases described.


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
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Latest revision as of 15:01, 1 August 2017

Congenital adrenal hyperplasia main page

Overview

Classification

21-hydroxylase deficiency
11β-hydroxylase deficiency
17 alpha-hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Lipoid congenital adrenal hyperplasia

Differential Diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Mehrian Jafarizade, M.D [2]

Overview

Congenital adrenal hyperplasia was first discovered by Luigi De Crecchio, an Italian pathologist in 1865. Explanation of hormonal aspects and molecular characteristics remained unclear until 1980. From 1980 scientists started to describe enzymes and molecular basis of 21-hydroxyase deficiency.

Discovery

References

  1. Delle Piane L, Rinaudo PF, Miller WL (2015). "150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio's classic paper from 1865". Endocrinology. 156 (4): 1210–7. doi:10.1210/en.2014-1879. PMID 25635623.
  2. Melmed, Shlomo (2016). Williams textbook of endocrinology. Philadelphia, PA: Elsevier. ISBN 978-0323297387.=
  3. HENCH PS, KENDALL EC (1949). "The effect of a hormone of the adrenal cortex (17-hydroxy-11-dehydrocorticosterone; compound E) and of pituitary adrenocorticotropic hormone on rheumatoid arthritis". Proc Staff Meet Mayo Clin. 24 (8): 181–97. PMID 18118071.
  4. Biglieri EG, Herron MA, Brust N (1966). "17-hydroxylation deficiency in man". J. Clin. Invest. 45 (12): 1946–54. doi:10.1172/JCI105499. PMC 292880. PMID 4288776.