Congenital adrenal hyperplasia historical perspective: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
No edit summary
No edit summary
 
(18 intermediate revisions by the same user not shown)
Line 2: Line 2:
{{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==
An Italian anatomist, Luigi De Crecchio provided the earliest known description of a case of probable CAH. <blockquote>I propose in this narrative that it is sometimes extremely difficult and even impossible to determine sex during life. In one of the [[anatomy|anatomical]] theaters of the hospital..., there arrived toward the end of January a cadaver which in life was the body of a certain Joseph Marzo... The general physiognomy was decidedly male in all respects. There were no feminine curves to the body. There was a heavy beard. There was some delicacy of structure with muscles that were not very well developed... The distribution of [[pubic hair]] was typical of the male. Perhaps the lower extremities were somewhat delicate, resembling the female, and were covered with hair... The [[penis]] was curved posteriorly and measured 6 cm, or with stretching, 10 cm. The [[glans|corona]] was 3 cm long and 8 cm in circumference. There was an ample [[foreskin|prepuce]]. There was a first grade [[hypospadias]]... There were two folds of skin coming from the top of the penis and encircling it on either side. These were somewhat loose and resembled [[labia majora]].</blockquote> De Crecchio then described the internal organs, which included a normal [[vagina]], [[uterus]], [[fallopian tube|tubes]], and [[ovary|ovaries]]. <blockquote>It was of the greatest importance to determine the habits, tendencies, passions, and general character of this individual... I was determined to get as complete a story as possible, determined to get at the base of the facts and to avoid undue exaggeration which was rampant in the conversation of many of the people present at the time of the dissection.</blockquote> He interviewed many people and satisfied himself that Joseph Marzo "conducted himself within the sexual area exclusively as a male, "even to the point of contracting the "[[syphilis|French disease]]" on two occasions. The cause of death was another in a series of episodes of vomiting and diarrhea.  
* 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]].  


This account, translated by Alfred Bongiovanni from De Crecchio (Sopra un caso di apparenzi virili in una donna. ''Morgagni'' 7:154-188, 1865), contains nearly all the important themes and issues. Were this man's male [[gender identity]], [[gender role|role]], and [[sexual orientation|orientation]] determined by his anatomy, by his [[testosterone]], or by his [[sex of rearing]]? His presumed female [[chromosome]]s and [[gonad]]s obviously did not make him female. Yet despite his careful documentation of Marzo's unambiguous social role, De Crecchio rejects his male identity and describes him as "una donna," revealing the 19th century assumption that a person's "true sex" can be determined by inspection of internal organs. Then as now, such a case prompted "undue exaggeration" and much "conversation." And then as now, we see the conflict between the desire of the scientist to learn and understand, and the sense of violation of poor Joseph Marzo's privacy. Finally, were the episodes of vomiting and diarrhea the salt-wasting of CAH?
* 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 [[Adrenal|adrenals]] and then published by Lancisi in 1714.
The association of excessive sex steroid effects with diseases of the adrenal cortex have been recognized for over a century. The term ''adrenogenital syndrome'' was applied to both sex-steroid producing tumors and severe forms of CAH for much of the 20th century, before some of the forms of CAH were understood. '''Congenital adrenal hyperplasia,''' which also dates to the first half of the century, has become the preferred term to reduce ambiguity and to emphasize the underlying pathophysiology of the disorders.
** 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.
Much of our modern understanding and treatment of CAH comes from research conducted at [[Johns Hopkins Medical School]] in Baltimore in the middle of the 20th century. Lawson Wilkins, "founder" of [[pediatric endocrinology]], worked out the apparently paradoxical pathophysiology: that hyperplasia and overproduction of adrenal androgens resulted from impaired capacity for making cortisol. He reported use of adrenal cortical extracts to treat children with CAH in 1950. Genital reconstructive surgery was also pioneered at Hopkins. After application of [[karyotype|karyotyping]] to CAH and other [[intersex]] disorders in the 1950s, [[John Money]], JL Hampson, and JG Hampson persuaded both the scientific community and the public that sex assignment should not be based on any single biological criterion, and gender identity was largely learned and has no simple relationship with chromosomes or hormones. See [[Intersex]] for a fuller history, including recent controversies over reconstructive surgery.
** 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 [[Adrenal|adrenals]] and showed that it had clinical benefit in patients with [[Addison disease]].
[[Hydrocortisone]], [[fludrocortisone]], and [[prednisone]] were available by the late 1950s. By 1980 all of the relevant steroids could be measured in blood by reference laboratories for patient care. By 1990 nearly all specific genes and enzymes had been identified.  
** 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.
However, the last decade has seen a number of new developments, discussed more extensively in [[congenital adrenal hyperplasia due to 21-hydroxylase deficiency]]:
** In 1937-1952, Kendall and Reichstein, defined the isolation and structural characterization of [[Adrenocortical hormone|adrenocortical hormones]].
# debate over the value of [[genital reconstructive surgery]] and changing standards
** In 1943, Li and colleagues isolated [[adrenocorticotropic hormone]] from sheep [[pituitary]].
# debate over [[sex assignment]] of severely virilized XX infants
** 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]]
# new treatments to improve height outcomes
** In 1956, Conn described [[primary aldosteronism]].
# [[newborn screening]] programs to detect CAH at birth
** In 1981, Vale defined characterization and synthesis of [[corticotropin-releasing hormone]].  
# increasing attempts to treat CAH before birth
** From 1980-present called the molecular era; highlights in this section are:
*** Cloning and functional characterization of [[Steroid hormone receptor|steroid hormone receptors]] discovered.
*** [[Steroidogenic]] [[enzymes]] described.
*** [[Adrenal]] [[transcription factors]] were reported.
*** [[Molecular]] basis for human adrenal diseases described.


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
[[Category:Disease]]
[[Category:Pediatrics]]
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
[[Category:Intersexuality]]
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}

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.
Retrieved from "https://www.wikidoc.org/index.php?title=Congenital_adrenal_hyperplasia_historical_perspective&oldid=1333148"