21-hydroxylase deficiency historical perspective: Difference between revisions

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{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency }}
{{21-hydroxylase deficiency }}


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


==Overview==
==Overview==
Congenital adrenal hyperplasia was first discovered by Luigi De Crecchio, an Italian anatomist.
[[Congenital adrenal hyperplasia]] was first discovered in 1865 by an Italian [[pathologist]], Luigi De Crecchio. 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==
==Historical Perspective==
=== Discovery ===
Landmark events in the understanding and discovery of [[adrenal]] hormones include the following:<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><ref>History of Congenital Adrenal Hyperplasia. Texas department of state health services (2016). http://www.dshs.state.tx.us/newborn/histor~1.shtm  Accessed on February 4, 2016</ref>
* In 1563, Eustachius described the [[adrenal glands]]. The findings were later on published by Lancisi in 1714.
* In 1849, [[Thomas Addison]], while searching for the cause of [[pernicious anemia]], found a bronze colored growth associated with the [[adrenal glands]]. Then in 1855, [[Thomas Addison]] described clinical findings in 11 cases of [[adrenal]] disorders.
* In 1856, while conducting [[adrenalectomy]] experiments, [[Brown-Sequard syndrome|Brown-Séquard]] found that the [[adrenal glands]] are necessary for life.
* In 1865, the Italian [[pathologist]], Dr. Luigi De Crecchio was the first to describe 21-hydroxylase deficiency. Dr. Crecchio found large [[adrenal glands]] in a male [[autopsy]], who had female [[internal organs]].
* In 1896, [[William Osler]] prepared an extraction 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 1936, Selye described the concept of stress and its effect on [[pituitary]]-[[adrenal]] function.
* In 1937-1952, Kendall and Reichstein, described the basic structure of [[Adrenocortical hormone|adrenocortical hormones]].
* 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 1956, Conn described [[primary aldosteronism]].
* In 1963 [[congenital adrenal hyperplasia]] was described as a complex disorder, caused by different enzyme deficiencies.
* In 1965, the diagnostic approach to [[congenital adrenal hyperplasia]] was established by measuring the levels of [[Adrenal gland|adrenal]] [[steroids]] in [[amniotic fluid]].


* There are no difficulties [[sex assignment|assigning]] appropriate sex for most infants with congenital adrenal hyperplasia. Genetic males have normal male genitalia and gonads and simply need hormone replacement. Most virilized females are assigned and raised as girls even if their genitalia are ambiguous or look more male than female. They have normal ovaries and uterus and potential fertility with hormone replacement and [[intersex surgery|surgery]]. However, the dilemmas surrounding [[sex assignment]] of the most severely virilized XX infants have helped shape our understanding of gender identity and sexual orientation, and continue to be a subject of debate.
=== The molecular era ===
 
* 1980 - present has been termed as the [[molecular]] era; highlights during this era are as follows:
* Until the 1950s, some virilized XX infants were assigned and raised as girls, and some as boys. Most developed gender identities congruent with their sex of rearing. In a few cases of male rearing, a [[sex reassignment]] was attempted in mid-childhood when newly discovered karyotyping revealed "female" chromosomes. These reassignments were rarely successful, leading [[John Money and other influential psychologists and physicians to conclude that gender identity was (1) unrelated to chromosomes, (2) primarily a result of social learning, and (3) could not be easily changed after infancy.
** Cloning and functional characterization of [[Steroid hormone receptor|steroid hormone receptors]] was discovered.
 
** [[Steroidogenic]] [[enzymes]] were described.
* In the 1950s and 1960s, surgery often involved clitorectomy (removal of most of clitoris), an operation that also reduced genital sensation. In the 1970s, new operative methods were developed to preserve innervation and clitoral function. However, a number of retrospective surveys in the last decade suggest that (1) sexual enjoyment is reduced in many women even after nerve-sparing procedures, and (2) women with congenital adrenal hyperplasia who have not had surgery also have a substantial rate of sexual dysfunction. (''See [[Intersex surgery]] for an overview of procedures and potential complications, and [[History of intersex surgery]] for a fuller discussion of the controversies. Many patient advocates and surgeons argue for deferring surgery until adolescence or later, while some surgeons continue to argue that infant surgery has advantages.
** [[Adrenal]] [[transcription factors]] were reported.
 
** [[Molecular]] basis for [[adrenal]] diseases was described.
* By the 1960s, congenital adrenal hyperplasia was well understood, [[karyotype|karyotyping]] was routine, and standard management was to assign and raise all children with congenital adrenal hyperplasia according to their [[gonad]]s and karyotypes, no matter how virilized. Markedly virilized girls were usually referred to a [[pediatric surgery|pediatric surgeon]], often a [[pediatric urology|pediatric urologist]] for a [[intersex surgery|reconstructive vaginoplasty and clitoral reduction]] or recession&mdash;surgery to create or enlarge a vaginal opening and reduce the size or protrusion of the clitoris. This approach was designed to preserve fertility for both sexes and remains the standard management, but two aspects of this management have been challenged: assignment of completely virilized genetic females and the value and age of corrective surgery.
 
* The first questions about assignment were raised in the early 1980s when Money and others reported an unexpectedly high rate of failure to achieve normal adult sexual relationships (i.e., heterosexual orientation, marriage, and children) in grown women with congenital adrenal hyperplasia (though all had female gender identities). However, the sample was small, and results seemed interpretable in many ways: selection bias, early hormone effects on orientation, sexual dysfunction created by residual body abnormalities, or by the genital surgery itself. From a perspective two decades later, the report was one of the first pieces of evidence that the standard management paradigm was not always producing hoped-for outcomes.
 
* Despite these concerns, no significant opposition to standard management arose until the mid-1990s, when a confluence of evidence and opinion from several sources led to a re-examination of outcomes. Several intersex support and advocacy groups (e.g., Intersex Society of North America) began to publicly criticize infant genital surgery based on unsatisfactory outcomes of some adults who had been operated on as infants. Their complaints were that they had reduced ability to enjoy sexual relations or that they resented not having had the choice of gender assignment or surgical reconstruction left until they were old enough to participate. (''See [[History of intersex surgery]].'')
 
* In 1997, influential articles by Reiner, Diamond, and Sigmundson advocated ''consideration'' of (1) male sex assignment in the unambiguously male XX infants (most of whom are considered male until the CAH is recognized at 1-2 weeks of age), and (2) delaying reconstructive surgery until the patient is old enough to participate in the decision. (''See [[Ambiguous genitalia]] and [[Intersex]] for more on this debate, as well as complete citations.)


==References==
==References==
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{{Reflist|2}}
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Latest revision as of 22:12, 28 July 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Mehrian Jafarizade, M.D [2] Ahmad Al Maradni, M.D. [3]

Overview

Congenital adrenal hyperplasia was first discovered in 1865 by an Italian pathologist, Luigi De Crecchio. 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.

Historical Perspective

Discovery

Landmark events in the understanding and discovery of adrenal hormones include the following:[1][2][3][4][5]

The molecular era

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.
  5. History of Congenital Adrenal Hyperplasia. Texas department of state health services (2016). http://www.dshs.state.tx.us/newborn/histor~1.shtm Accessed on February 4, 2016

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