Androgen insensitivity syndrome pathophysiology: Difference between revisions
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*It is thought that Androgen insensitivity syndrome is caused due to hormone resistance which may be defetive androgen receptor (AR) function by either abnormal AR binding, decreased receptor binding, or imapired androgen receptor (AR) binding. <ref name="FlierUnderhill1992">{{cite journal|last1=Flier|first1=Jeffrey S.|last2=Underhill|first2=Lisa H.|last3=Griffin|first3=James E.|title=Androgen Resistance — The Clinical and Molecular Spectrum|journal=New England Journal of Medicine|volume=326|issue=9|year=1992|pages=611–618|issn=0028-4793|doi=10.1056/NEJM199202273260906}}</ref> <ref name="pmid20301602">{{cite journal |vauthors=Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, Gottlieb B, Trifiro MA |title= |journal= |volume= |issue= |pages= |year= |pmid=20301602 |doi= |url=}}</ref> <ref name="BrownMaes1982">{{cite journal|last1=Brown|first1=Terry R.|last2=Maes|first2=Marc|last3=Rothwell|first3=Stephen W.|last4=Migeon|first4=Claude J.|title=Human Complete Androgen Insensitivity with Normal Dihydrotestosterone Receptor Binding Capacity in Cultured Genital Skin Fibroblasts: Evidence for a Qualitative Abnormality of the Receptor*|journal=The Journal of Clinical Endocrinology & Metabolism|volume=55|issue=1|year=1982|pages=61–69|issn=0021-972X|doi=10.1210/jcem-55-1-61}}</ref> <ref name="Griffin1979">{{cite journal|last1=Griffin|first1=James E.|title=Testicular Feminization Associated with a Thermolabile Androgen Receptor in Cultured Human Fibroblasts|journal=Journal of Clinical Investigation|volume=64|issue=6|year=1979|pages=1624–1631|issn=0021-9738|doi=10.1172/JCI109624}}</ref> | *It is thought that Androgen insensitivity syndrome is caused due to hormone resistance which may be defetive androgen receptor (AR) function by either abnormal AR binding, decreased receptor binding, or imapired androgen receptor (AR) binding. <ref name="FlierUnderhill1992">{{cite journal|last1=Flier|first1=Jeffrey S.|last2=Underhill|first2=Lisa H.|last3=Griffin|first3=James E.|title=Androgen Resistance — The Clinical and Molecular Spectrum|journal=New England Journal of Medicine|volume=326|issue=9|year=1992|pages=611–618|issn=0028-4793|doi=10.1056/NEJM199202273260906}}</ref> <ref name="pmid20301602">{{cite journal |vauthors=Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, Gottlieb B, Trifiro MA |title= |journal= |volume= |issue= |pages= |year= |pmid=20301602 |doi= |url=}}</ref> <ref name="BrownMaes1982">{{cite journal|last1=Brown|first1=Terry R.|last2=Maes|first2=Marc|last3=Rothwell|first3=Stephen W.|last4=Migeon|first4=Claude J.|title=Human Complete Androgen Insensitivity with Normal Dihydrotestosterone Receptor Binding Capacity in Cultured Genital Skin Fibroblasts: Evidence for a Qualitative Abnormality of the Receptor*|journal=The Journal of Clinical Endocrinology & Metabolism|volume=55|issue=1|year=1982|pages=61–69|issn=0021-972X|doi=10.1210/jcem-55-1-61}}</ref> <ref name="Griffin1979">{{cite journal|last1=Griffin|first1=James E.|title=Testicular Feminization Associated with a Thermolabile Androgen Receptor in Cultured Human Fibroblasts|journal=Journal of Clinical Investigation|volume=64|issue=6|year=1979|pages=1624–1631|issn=0021-9738|doi=10.1172/JCI109624}}</ref> | ||
===Genetics=== | ===Genetics=== | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
The exact pathogenesis of [disease name] is not fully understood.
OR
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Pathophysiology
Pathogenesis
- It is thought that Androgen insensitivity syndrome is caused due to hormone resistance which may be defetive androgen receptor (AR) function by either abnormal AR binding, decreased receptor binding, or imapired androgen receptor (AR) binding. [1] [2] [3] [4]
Genetics
- The development of Androgen insensitivity syndrome is a result of genetic mutations of the androgen receptor (AR) gene located on the chromosome Xq11-12.
- Different mutations in the androgen receptor (AR) gene leads to varied clinical phenotypes. [5] [6]
Associated Conditions
Gross Pathology
- Complete androgen insensitivity syndrome in a 30 years old woman who presented primary amenorrhea.[7]. [8]
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Front and side view of the patient
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Normal female morphotype but absence of pubic and axillary hair
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Clinical aspect of the vagina
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Intra- abdominal testes - Laparoscopic aspect
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The excised testis - Macroscopic aspect
Microscopic Pathology
- Histopathology shows two testes with atrophic seminiferous tubules containing only Sertoli cells, associated to a Leydig cells hyperplasia.[8]
- On histological examination, the well-limited nodule circumscribed by a thin capsule consists of atrophic Servolian tubes with a very small interstitial tissue with rare Leydig cells. This nodule corresponds to a well differentiated tumor with Sertoli-Leydig cells. [7]
References
- ↑ Flier, Jeffrey S.; Underhill, Lisa H.; Griffin, James E. (1992). "Androgen Resistance — The Clinical and Molecular Spectrum". New England Journal of Medicine. 326 (9): 611–618. doi:10.1056/NEJM199202273260906. ISSN 0028-4793.
- ↑ Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean L, Bird TD, Ledbetter N, Mefford HC, Smith R, Stephens K, Gottlieb B, Trifiro MA. PMID 20301602. Vancouver style error: initials (help); Missing or empty
|title=(help) - ↑ Brown, Terry R.; Maes, Marc; Rothwell, Stephen W.; Migeon, Claude J. (1982). "Human Complete Androgen Insensitivity with Normal Dihydrotestosterone Receptor Binding Capacity in Cultured Genital Skin Fibroblasts: Evidence for a Qualitative Abnormality of the Receptor*". The Journal of Clinical Endocrinology & Metabolism. 55 (1): 61–69. doi:10.1210/jcem-55-1-61. ISSN 0021-972X.
- ↑ Griffin, James E. (1979). "Testicular Feminization Associated with a Thermolabile Androgen Receptor in Cultured Human Fibroblasts". Journal of Clinical Investigation. 64 (6): 1624–1631. doi:10.1172/JCI109624. ISSN 0021-9738.
- ↑ Li L, Liu WM, Liu MX, Zheng SQ, Zhang JX, Che FY, Liu SG (2017). "A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family". Asian J. Androl. 19 (2): 260–261. doi:10.4103/1008-682X.172647. PMC 5312231. PMID 26806084.
- ↑ Brinkmann, Albert O. (2001). "Molecular basis of androgen insensitivity". Molecular and Cellular Endocrinology. 179 (1–2): 105–109. doi:10.1016/S0303-7207(01)00466-X. ISSN 0303-7207.
- ↑ 7.0 7.1 7.2 Souhail R, Amine S, Nadia A, Tarik K, Khalid EK, Abdellatif K, Ahmed A (2016). "Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report". Pan Afr Med J. 25: 199. doi:10.11604/pamj.2016.25.199.10758. PMC 5326263. PMID 28270903.
- ↑ 8.0 8.1 8.2 Lachiri B, Hakimi I, Boudhas A, Guelzim K, Kouach J, Oukabli M, Rahali DM, Dehayni M (2015). "[Complete androgen insensitivity syndrome: report of two cases and review of literature]". Pan Afr Med J (in French). 20: 400. doi:10.11604/pamj.2015.20.400.6760. PMC 4524922. PMID 26301004.