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==Historical Perspective==
==Historical Perspective==
Congenital adrenal hyperplasia 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 discoverinh 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>
* In 1563, Eustachius described the adrenals and then published by Lancisi in 1714.


* 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 is 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.<ref name="Wikipeadia">https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency URL Accessed on 10/15/2015 </ref>
* 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.
* 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:
:* Unrelated to chromosomes
:* Primarily a result of social learning
:* Could not be easily changed after infancy


* 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.
* 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 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 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, defined the Isolation and structural characterization of adrenocortical hormones.
* In 1943, Li and colleagues isolated adrenocorticotropic hormone from sheep pituitary.


* 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 the 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.
* 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 1981, Vale defined characterization and synthesis of corticotropin-releasing hormone.  


* 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.
* From 1980-present called the molecular era:
 
** Cloning and functional characterization of steroid receptors
* 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 congenital adrenal hyperplasia is recognized at 1-2 weeks of age) and (2) delaying reconstructive surgery until the patient is old enough to participate in the decision.
** Steroidogenic enzymes
 
** Adrenal transcription factors are reported
* Although the standard management approach remains standard, more time and consideration are being given in many cases to explaining alternatives to parents and a small number of XX children with unambiguously male external genitalia are again being raised as boys.
** Molecular basis for human adrenal diseases.


==References==
==References==

Revision as of 13:48, 12 July 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Overview

Congenital adrenal hyperplasia was first discovered by Luigi De Crecchio, an Italian anatomist.

Historical Perspective

Congenital adrenal hyperplasia 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 discoverinh adrenal hormones and diseased include congenital adrenal hyperplasia below:[1][2][3][4]

  • In 1563, Eustachius described the 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 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 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 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, defined the Isolation and structural characterization of 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 1981, Vale defined characterization and synthesis of corticotropin-releasing hormone.
  • From 1980-present called the molecular era:
    • Cloning and functional characterization of steroid receptors
    • Steroidogenic enzymes
    • Adrenal transcription factors are reported
    • Molecular basis for human adrenal diseases.

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.

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