Congenital adrenal hyperplasia historical perspective: Difference between revisions

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{{Congenital adrenal hyperplasia}}
{{Congenital adrenal hyperplasia}}


{{CMG}}; '''Associate Editor-In-Chief:''' {{CZ}}
{{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|molecular characteristics]] remained unclear until 1980. From 1980 scientists started to describe [[enzymes]] and molecular basis of 21-hydroxyase deficiency.


==Historical Perspective==
==Discovery==
Congenital adrenal hyperplasia first time seen in a man at autopsy who had big adrenal glands and female internal organs.<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>
* 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]].  


In 1563, Eustachius describes the adrenals (published by Lancisi in 1714).
* 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 1849, Thomas Addison, while searching for the cause of pernicious anemia, stumbles on a bronzed appearance associated with the adrenal glands called ''melasma suprarenale''                                                                        In 1855, Thomas Addison describes the clinical features and autopsy findings in 11 cases of diseases of the suprarenal capsules, at least 6 of which were tuberculous in origin.
** In 1563, Eustachius described the [[Adrenal|adrenals]] and then published by Lancisi in 1714.
In 1856, In adrenalectomy experiments, Brown-Séquard demonstrates that the adrenal glands are essential for life.
** 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 1896, William Osler prepares an oral glycerin extract derived from pig adrenals and demonstrates that it has clinical benefit in patients with Addison disease.
** 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 1905, Bulloch and Sequeira describe patients with congenital adrenal hyperplasia.
** In 1856, In [[adrenalectomy]] experiments, [[Brown-Sequard syndrome|Brown-Séquard]] found that the [[adrenal glands]] are nessesary for life.  
In 1929, Liquid extracts of cortical tissue are used to keep adrenalectomized cats alive indefinitely (Swingle and Pfiffner); subsequently, this extract was used successfully to treat a patient with Addison disease (Rowntree and Greene).
** 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 1932, Harvey Cushing associates the polyglandular syndrome of pituitary basophilism, which he first described in 1912, with hyperactivity of the pituitary-adrenal glands.
** In 1905, Bulloch and Sequeira described patients with [[congenital adrenal hyperplasia]].  
In 1936,The concept of stress and its effect on pituitary-adrenal function are described by Selye.
** In 1936, Selye described the concept of stress and its effect on [[pituitary]]-[[adrenal]] function.  
In 1937-1952,Isolation and structural characterization of adrenocortical hormones are reported by Kendall and Reichstein.
** In 1937-1952, Kendall and Reichstein, defined the isolation and structural characterization of [[Adrenocortical hormone|adrenocortical hormones]].  
In 1943, Li and colleagues isolate pure 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 share 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 1981, Vale defined characterization and synthesis of [[corticotropin-releasing hormone]].  
In 1953,Isolation and analysis of the structure of aldosterone are reported by Simpson and Tait.
** From 1980-present called the molecular era; highlights in this section are:
In 1956, Conn describes primary aldosteronism.
*** Cloning and functional characterization of [[Steroid hormone receptor|steroid hormone receptors]] discovered.
In 1981, Characterization and synthesis of corticotropin-releasing hormone are reported by Vale.
*** [[Steroidogenic]] [[enzymes]] described.
 
*** [[Adrenal]] [[transcription factors]] were reported.
From 1980-present the molecular era: cloning and functional characterization of steroid receptors, steroidogenic enzymes, and adrenal transcription factors are reported, and the molecular basis for human adrenal diseases is defined.
*** [[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.