Androgen insensitivity syndrome pathophysiology: Difference between revisions

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Revision as of 15:25, 23 August 2017

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Androgen insensitivity syndrome results from mutations of the gene encoding the androgen receptor. AIS involves variable degree of undervirilization and/or infertility in genetically male person. Family history of other affected individuals related to each other in a pattern consistent with X linked inheritance. Androgen insensitivity syndrome is associated with conditions such as primary amenorrhea, infertility, and dyspareunia.

Pathophysiology

Pathogenesis

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].
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
The progression to [disease name] usually involves the [molecular pathway].
The pathophysiology of [disease/malignancy] depends on the histological subtype.

Genetics

[Disease name] is transmitted in [mode of genetic transmission] pattern.
Genes involved in the pathogenesis of [disease name] include [gene1], [gene2], and [gene3].
The development of [disease name] is the result of multiple genetic mutations.

Associated Conditions

Gross Pathology

Complete androgen insensitivity syndrome in a 30 years old woman who presented primary amenorrhea.^[1]. ^[2]

Front and side view of the patient
Normal female morphotype but absence of pubic and axillary hair
Clinical aspect of the vagina
Intra- abdominal testes - Laparoscopic aspect
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.^[2]
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. ^[1]

Testes - Atrophy of the seminiferous tubules - Histopathological aspect, HE staining.^[1]
testicular parenchyma of lobulated architecture, made of seminiferous tubes of atrophic appearance; these tubes are lined with Sertolia cells, with no obvious signs of spermatogenesis the interstitium is fibrous with rare clusters of Leydig cells.^[2]

References

↑ ^1.0 ^1.1 ^1.2 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.
↑ ^2.0 ^2.1 ^2.2 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.

Template:WH Template:WS

[pmid28270903-1] 1.0 ^1.1 ^1.2 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.

[pmid26301004-2] 2.0 ^2.1 ^2.2 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.

[1]

[2]

@@ Line 18: / Line 18: @@
 ===Genetics===
+*[Disease name] is transmitted in [mode of genetic transmission] pattern.
-*Family history of other affected individuals related to each other in a pattern consistent with [[X linked inheritance]]. “Other affected family members” refers to: <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>
+*Genes involved in the pathogenesis of [disease name] include [gene1], [gene2], and [gene3].
-**Affected 46,XY individuals
+*The development of [disease name] is the result of multiple genetic mutations.
-**Manifesting [[heterozygous]] females (46,XX).
-*About 10% of [[heterozygous]] females have asymmetric distribution and sparse or delayed growth of [[pubic]] and/or [[axillary hair]].
-*Absence of a family history of AIS or suggestive features of AIS does not preclude the diagnosis.
-*Because the Androgen Insensitivity Syndrome gives rise to ambiguity between the genetic and the phenotypic gender, we will use the convention 46,XY to designate a genotypic male, and 46,XX to designate a genotypic female. By this convention, a person with Androgen Insensitivity Syndrome is a 46,XY but a phenotypic female.
-*The Androgen Insensitivity Syndrome has been linked to mutations in [[Androgen receptor]] ([[Androgen receptor|AR]]), the gene for the human [[Androgen receptor]] ([[Androgen receptor|AR]]), located at Xq11-12 (i.e. on the [[X chromosome]]). Thus, it is an [[X-linked recessive]] trait, causing minimal or no effects in 46,XX people.
-*However, 46,XX women with a single mutated copy of the AR gene can be "carriers" of AIS, and their 46,XY children (male) will have a 50% chance of having the syndrome. As in some other [[X-linked recessive]] conditions, carrier mothers may display some minor traits of the condition: AIS carriers often have reduced [[underarm hair|axillary]] and [[pubic hair]], and reduced normal adolescent [[Acne vulgaris|acne]].
-[[Image:aisdiag.png|thumb|left|300px|Schematic of AIS affecting an Androgen Receptor]]
-[[Image:XlinkRecessive.jpg|thumb|center|300px|X-linked recessive inheritance]]
 ==Associated Conditions==