Androgen+Insensitivity+Syndrome

Joanna Lucca

** Androgen Insensitivity Syndrome(AIS) ** Androgen Insensitivity Syndrome(AIS) which is also referred to as the Morris syndrome, occurs when the androgen receptor gene does not function properly in a person with an XY chromosome, and therefore they develop minimal male sex characteristics, looking more like a female than a male (Dell’Edera et al., 2010). After about 9 weeks, the testes of a male human embryo begin secreting androgens. Testosterone, which is a type of androgen, aids in the development of male sex characteristics (Gelani et al., 2008). When the androgen receptor gene is functioning properly, a male develops normal male sex characteristics, including testicles and a penis. However, if an embryo has XY chromosomes, they will develop testes, but if there is a mutation in the receptor gene, and is not working properly, one will develop minimal male sex characteristics. An individual with AIS has 46 chromosomes and XY chromosomes (Koch, 2010).

**Types of AIS** AIS is classified into three different groups: complete, partial and mild or minimal androgen insensitivity syndrome. Complete Androgen Insensitivity Syndrome (CAIS): CAIS is when an individual has XY chromosomes but the body is unable to respond to androgens (“Androgen Insensitivity Syndrome,” 2008). Therefore, a penis and other male sex characteristics are unable to be produced (“Androgen Insensitivity Syndrome,” 2010). The estimated occurrence of this syndrome is 1 in every 20,000 to 64,000 births, thus it is not very prevalent. When one has this syndrome, they have normal female external genitalia, and during puberty they develop breasts, however they do not develop much pubic or armpit hair. It is not until one reaches puberty when they are suspected of being abnormal and having this syndrome (Gelani et al., 2008). Partial Androgen Insensitivity Syndrome (PAIS): PAIS is thought to have to a similar prevalence rate as CAIS. Individuals that are classified in this category are recognized as either having predominantly male or female characteristics. If one has predominantly female external genitalia, they will have pubic hair and a mild clitoromegaly, which means an enlargement of the clitoris. If one has predominantly male external genitalia, they will have a micropenis, an unusually small penis (Gelani et al., 2008). Mild Androgen Insensitivity Syndrome (MAIS): MAIS is when a male has an underdeveloped genitalia or a coronal hypospadias, which means that the uretha opening is not at the tip of the penis. When one reaches puberty and has MAIS, MAIS will take one of two forms. In the one case, fertility and spermatogenesis, which is the creation of sperm from a germ cell, are impaired. In the other form, fertility and spermatosis are not impaired. However, in both cases, one will display different degrees of a high pitched voice, sparse sexual hair, and gynecomastia, which is when the male has enlarged breasts due to the abnormal development of large mammary glands (Gelani et al., 2008). Individuals with CAIS and PAIS have the same amount and type of hormones. In general androgen insensitivity is caused by a mutation of the androgen receptor. About 70% of the molecular defects are biologically inherited. One can also be diagnosed with AIS from a germline or somatic mutation, which are mutations that are not inherited (Gelani et al., 2008). A somatic mutation is a molecular defect that occurs after the zygotic stage, the stage where the egg is fertilized. A germline mutation is a molecular defect resulting from a single germ cell or a germ cell mosaicism of the mother. A germ cell mosacisim is when there are different types and populations of cells in an individual (Gelani et al., 2008).

**Diagnosis** When one is diagnosed with AIS, the parents of the individual and doctors have a difficult time making a decision regarding assigning the sex of the individual. In order for them to make a decision, it is important that the individual is given the correct diagnosis because they then have an idea as to what the individual will develop and experience during puberty and adulthood (Gelani et al., 2008). An important factor to consider is whether the development of male sex characteristics will increase at puberty or if the sex characteristics will develop after a new born baby with ambiguous external genitalia has received androgen therapy. Some people think it would be beneficial to wait to assign the sex of individuals with PAIS until after they do a testosterone treatment trial that would help determine how much of the male sex characteristics would develop during puberty. However, this idea is controversial because it is not certain that the baby will respond the same way to androgen when they are a baby compared to when they are going through puberty. Overall though, when assigning the sex of an individual, they base it off the external genital characteristics, data collected on hormones, and how likely it would be to have reconstructive surgery (Gelani et al., 2008). Individuals with CAIS who have an XY chromosome but show external genitalia of a female, are assigned as a girl typically. Many times after the individual has gone through puberty, they will get their testes removed. Individuals with PAIS who possess predominantly female sex characteristics are usually assigned female, but to help decrease the emotional discomfort of an increasing large clitoris during puberty, they remove the testes before puberty. However, when an individual has PAIS and has ambiguous sex characteristics the assigning process is very complicated and difficult. Lastly, the main priority for individuals with MAIS is to try to reproduce sperms from germ cells (Gelani et al., 2008).

**Symptoms** The symptoms for individuals with CAIS include a person who appears to be female based on physical appearance, but does not have a uterus nor much pubic and armpit hair. During puberty the individual does not go through menstruation and is infertile, but does develop breasts and other female secondary sex characteristics. Individuals with PAIS might not only have female physical characteristics, but male characteristics as well. (“Androgen Insensitivity Syndrome,” 2010). Many of times individuals with CAIS do not realize they have CAIS until puberty when they have not menstruated, but should have by then. It is easier to detect and diagnose individuals with PAIS sooner due to the fact that they might have both female and male characteristics (“Androgen Insensitivity Syndrome,” 2010).

**Support Groups** There are many resources that offer patient support to patients and their families. Below are just a few of the resources that are offered. [|National Organization for Rare Disorders] [|Rare Genetic Steroid Disorders Consortium] [|Resolve: The National Infertility Association] [|Resource list from the University of Kansas Medical Center] (“Androgen Insensitivity Syndrome,” 2008) These support groups help the patient better understand the syndrome and aids them in how to communicate to others about their syndrome.

**Communication and AIS** If an individual is diagnosed with AIS at birth, the parents and doctors need to communicate and decide what assignment is best for the individual. However, if the individual is not diagnosed with AIS until later in life, it is up to the individual as to whether or not to receive surgery and talk to the doctor about all the options the individual has.

** References ** Androgen insensitivity syndrome. (2008). Retrieved from [|http://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome |http://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome] Androgen insensitivity syndrome. (2010). Retrieved from [|http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002163/ |http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002163/] Androgen Insensitivity Syndrome. (n.d.). Retrieved from [|http://www.secondtype.info/ais.htm |http://www.secondtype.info/ais.htm] Dell’Edera, D., Malvasi, A., Vitullo, E., Epifania, AA., Tinelli, A., Laterza, F., Novelli,A., Pacella, E. (2010). Androgen insensitivity syndrome (or Morris syndrome) and other associated pathologies. //European review for medical and pharmacological sciences//, 14(11), 947-57. Galani, A., Kitsiou-Tzeli, S., Sofokleous, C., Kanavakis, E., Kalpini-Mavrou, A. (2008). Androgen insensitivity syndrome: clinical features and molecular defects. //International// //Journal of Endocrinology and Metabolism//, 7(3), 217-229. Koch, C. (2010). Androgen Insensitivity Syndrome. Retrieved from []