Androgen Insensitivity Syndrome: Sex and Genetics
When an individual is born they are usually given a gender of either male of female depending on their genitals and continue to develop that way throughout their life. For some people, their gender is not so easily decided for them. There have been several cases where individuals have been born with both parts or have developed both sexual parts as they grew up. At an early age certain individuals have to choose what to identify as due to a genetic defect known as androgen insensitivity syndrome. “Androgen insensitivity syndrome (AIS) is a condition that affects sexual development before birth and during puberty” (Androgen Insensitivity Syndrome 2008). AIS is known by several names this includes …show more content…
For instance CAIS symptoms are different from PAIS symptoms and women symptoms are different from men symptoms. In one research, women with CAIS lacked pubic hair, had typical female genitalia, and had a blind-ended vagina (Yamaguchi, Sameshima, and Ikenoue 2014). In the case report of September 2014 six women were reported to lack axillary and public hair, but showed the development of breast (Yamaguchi et al 2014). Another research conducted by a different group confirmed that other symptoms of CAIS included signs of genital masculinization may be present as clitoromegaly, labial fusion or the development of Wolffian ducts (Wang, Sa, Ye, Zhang, Xu 2014). Clitoromegaly is known as an abnormal enlargement of the clitoris. Labial fusion is defined as when the small inner lips around the entrance to the vagina become sealed together and covered with a fleshy membrane. (Labial Fusion 2014) Surprisingly the women tested in the case report of 2014 confirmed this as well. Of these six females three had testes located in the groin, testes were in the pelvis of two of them, and testes in the labia of one. PAIS symptoms are a little different from CAIS. Women with PAIS may show mild clitoromegaly, some fusion of the labia, and pubic hair at puberty. Women with PAIS have more of a chance to develop pubic hair than those that have CAIS. Men with CAIS tend to have opposite symptoms as women. “Men …show more content…
For instance, the absent of pubic hair and extreme height in women are tale-tale signs to the doctor that this might be CAIS. Just like symptoms, the diagnosis may vary different ways depending on the type of AIS. Diagnosing CAIS tends to be easier than diagnosing PIAS. “CAIS is a relatively obvious entity, and it only rarely leads to diagnostic issues if the initial diagnostic investigations are adequate. This is because CAIS symptoms are more visible and easier to find. For example the six women in the report of 2014 all had CAIS and was shown to lack hair and both male and female genitals (Wang et al 2014). All women were easily diagnosed and studied. Comparing this to a case of someone with PAIs shows the difference between the two and how a person could be miss diagnosed. A case report on August 1 2014 showed test results of a man who had been diagnosed with PAIS. “The son of an Ashkenazi mother and a father of Syrian descent, the patient was born with a micro penis, a grade three perineo-scrotal hypospadias with chordae, the urethral opening seen between the folds of a bifid scrotum containing normal testes;” (Tordjman, Yaron, Berkovitz, Botchan, Sultan, Lumbroso 2014). The reason individuals with PAIS can appear as normal individuals or in this case have supposedly normal genitals is because of how PAIS is a clinically heterogeneous disorder and presents a more complicated
When an individual is born they are usually given a gender of either male of female depending on their genitals and continue to develop that way throughout their life. For some people, their gender is not so easily decided for them. There have been several cases where individuals have been born with both parts or have developed both sexual parts as they grew up. At an early age certain individuals have to choose what to identify as due to a genetic defect known as androgen insensitivity syndrome. “Androgen insensitivity syndrome (AIS) is a condition that affects sexual development before birth and during puberty” (Androgen Insensitivity Syndrome 2008). AIS is known by several names this includes …show more content…
For instance CAIS symptoms are different from PAIS symptoms and women symptoms are different from men symptoms. In one research, women with CAIS lacked pubic hair, had typical female genitalia, and had a blind-ended vagina (Yamaguchi, Sameshima, and Ikenoue 2014). In the case report of September 2014 six women were reported to lack axillary and public hair, but showed the development of breast (Yamaguchi et al 2014). Another research conducted by a different group confirmed that other symptoms of CAIS included signs of genital masculinization may be present as clitoromegaly, labial fusion or the development of Wolffian ducts (Wang, Sa, Ye, Zhang, Xu 2014). Clitoromegaly is known as an abnormal enlargement of the clitoris. Labial fusion is defined as when the small inner lips around the entrance to the vagina become sealed together and covered with a fleshy membrane. (Labial Fusion 2014) Surprisingly the women tested in the case report of 2014 confirmed this as well. Of these six females three had testes located in the groin, testes were in the pelvis of two of them, and testes in the labia of one. PAIS symptoms are a little different from CAIS. Women with PAIS may show mild clitoromegaly, some fusion of the labia, and pubic hair at puberty. Women with PAIS have more of a chance to develop pubic hair than those that have CAIS. Men with CAIS tend to have opposite symptoms as women. “Men …show more content…
For instance, the absent of pubic hair and extreme height in women are tale-tale signs to the doctor that this might be CAIS. Just like symptoms, the diagnosis may vary different ways depending on the type of AIS. Diagnosing CAIS tends to be easier than diagnosing PIAS. “CAIS is a relatively obvious entity, and it only rarely leads to diagnostic issues if the initial diagnostic investigations are adequate. This is because CAIS symptoms are more visible and easier to find. For example the six women in the report of 2014 all had CAIS and was shown to lack hair and both male and female genitals (Wang et al 2014). All women were easily diagnosed and studied. Comparing this to a case of someone with PAIs shows the difference between the two and how a person could be miss diagnosed. A case report on August 1 2014 showed test results of a man who had been diagnosed with PAIS. “The son of an Ashkenazi mother and a father of Syrian descent, the patient was born with a micro penis, a grade three perineo-scrotal hypospadias with chordae, the urethral opening seen between the folds of a bifid scrotum containing normal testes;” (Tordjman, Yaron, Berkovitz, Botchan, Sultan, Lumbroso 2014). The reason individuals with PAIS can appear as normal individuals or in this case have supposedly normal genitals is because of how PAIS is a clinically heterogeneous disorder and presents a more complicated