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Psychological support

Psychological support is probably the most main aspect of medical care from the patient's point of view. In a family with an affected person, the parents are the primary clients. Parents need genetic counseling to understand the nature of the condition and the risk of recurrence (25% for each subsequent pregnancy) as well as to identify other potential carriers. In addition, parents often benefit from the services of a pediatric psychologist or child and adolescent psychiatrist to help adjust to their child's condition, including support on how to inform the child, over time and in an age-appropriate manner, about the condition. Genetic counselors do not provide this type of ongoing family support.

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Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile). They are typically raised as females and have a female gender identity. Affected individuals have male internal sex organ (testes) that are undecided, which means they are abnormally located in the pelvis or abdomen. Undecided testes have a small chance of becoming cancerous later in life if they are not surgically removed. People with complete androgen insensitivity syndrome also have sparse or absent hair in the pubic area and under the arms.

The partial and mild forms of androgen insensitivity syndrome result when the body's tissues are partially sensitive to the effects of androgens. People with partial androgen insensitivity (also called Reifenstein syndrome) can have genitalia that look typically female, genitalia that have both male and female characteristics, or genitalia that look typically male. They may be raised as males or as females and may have a male or a female gender identity. People with mild androgen insensitivity are born with male sex characteristics, but they are often infertile and tend to experience breast enlargement at puberty.

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Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome & one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female external sex characteristics or signs of both male and female sexual development.
AIS can be divided into parts, complete androgen insensitivity
syndrome, and the partial and mild forms of androgen insensitivity syndrome

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Treatment

Hormone replacement therapy

HRT is the first and less complex aspect. All patients with complete androgen insensitivity syndrome (CAIS) and most patients with all but the mildest forms of partial androgen insensitivity syndrome (PAIS) undergo gonadectomy at some point in their treatment (see Surgical Care). Adolescent and adult patients with androgen insensitivity syndrome require hormone replacement.

For patients with complete androgen insensitivity syndrome, hormone therapy almost always consists of estrogen replacement. The general belief is that these women do not require progesterone because they have no uterus. Some evidence suggests that progesterone therapy combined with estrogen replacement may lessen the long-term risk of breast cancer, although this type of therapy is debatable. More recent meta-analyses suggest progesterone administration may have little or no advantage for patients without a uterus. Therapy usually is initiated with a low dose of estrogen alone, then is increased to routine adult dosing. Progesterone is added, if considered appropriate, after maintenance therapy with estrogen is established.

For individuals with partial androgen insensitivity syndrome , traditional therapy has mirrored therapy for individuals with complete androgen insensitivity syndrome. Patients with partial androgen insensitivity syndrome who have a male gender identity, however, may be treated with testosterone and/or dihydrotestosterone (DHT). The advantage of DHT is that it cannot be aromatized to estrogen. No medical consensus has been reached about this therapy; no dosage schedules have been established. Therapy may vary depending on the nature of the gene defect.

Patients with Kennedy disease cannot receive causal therapy. Trials have been done with testosterone replacement. Animal data suggest worsening of the neurologic symptoms, but this has not yet been confirmed in humans. In this context, nongenomic testosterone effects have to be considered.

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Pathogenesis of AIS

Mutations in the androgen receptor gene can cause problems with any of the steps involved in androgenization, from the synthesis of the androgen receptor protein itself, through the transcriptional ability of the dimerized, androgen-AR complex.AIS can result if even one of these steps is significantly disrupted, as each step is required for androgens to activate the AR successfully and regulate gene expression. Exactly which steps a particular mutation will impair can be predicted, to some extent, by identifying the area of the AR in which the mutation resides. This predictive ability is primarily retrospective in origin; the different functional domains of the AR gene have been elucidated by analyzing the effects of specific mutations in different regions of the AR. For example, mutations in the steroid binding domain have been known to affect androgen binding affinity or retention, mutations in the hinge region have been known to affect nuclear translocation, mutations in the DNA-binding domain have been known to affect dimerization and binding to target DNA, and mutations in the transactivation domain have been known to affect target gene transcription regulation. Unfortunately, even when the affected functional domain is known, predicting the phenotypical consequences of a particular mutation  is difficult.

Some mutations can adversely impact more than one functional domain. For example, a mutation in one functional domain can have deleterious effects on another by altering the way in which the domains interact.A single mutation can affect all downstream functional domains if a premature stop codon or framing error results; such a mutation can result in a completely unusable (or unsynthesizable) androgen receptor protein.The steroid binding domain is particularly vulnerable to the effects of a premature stop codon or framing error, since it occurs at the end of the gene, and its information is thus more likely to be truncated or misinterpreted than other functional domains.

Other, more complex relationships have been observed as a consequence of mutated AR; some mutations associated with male phenotypes have been linked to male breast cancer, prostate cancer, or in the case of spinal and bulbar muscular atrophy, disease of the central nervous system.The form of breast cancer seen in some men with PAIS is caused by a mutation in the AR's DNA-binding domain.This mutation is thought to cause a disturbance of the AR's target gene interaction that allows it to act at certain additional targets, possibly in conjunction with the estrogen receptor protein, to cause cancerous growth.The cause of spinal and bulbar muscular atrophy (SBMA) demonstrates that even the mutant AR protein itself can result in pathology. The trinucleotide repeat expansion of the polyglutamine tract of the AR gene that is associated with SBMA results in the synthesis of a misfolded AR protein that the cell fails to proteolyze and disperse properly.These misfolded AR proteins form aggregates in the cell cytoplasm and nucleus. Over the course of 30 to 50 years, these aggregates accumulate and have a cytotoxic effect, eventually resulting in the neurodegenerative symptoms associated with SBMA.

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What would female athletes with Androgen Insensitivity Syndrome feel?

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What would female athletes with Androgen Insensitivity Syndrome feel?

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- Humiliated in public
- Discriminated against in public
- Depression leading to suicide

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Briefly on Pathogenesis of Androgen Insensitivity Syndrome-	Mutations in the androgen receptor gene cause problems in androgenization from synthesis of androgen receptor protein itself-	Androgen receptor fail to be activated and successfully regulate gene expression-	Mutations in certain domains in the androgen receptor genes may cause nuclear translocations, affected dimerizations and binding to target DNA, affected target gene transcription regulation, cause deleterious effects on another domain,

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Briefly on Pathogenesis of Androgen Insensitivity Syndrome-	Mutations in the androgen receptor gene cause problems in androgenization from synthesis of androgen receptor protein itself-	Androgen receptor fail to be activated and successfully regulate gene expression-	Mutations in certain domains in the androgen receptor genes may cause nuclear translocations, affected dimerizations and binding to target DNA, affected target gene transcription regulation, cause deleterious effects on another domain,

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3. BEHAVIORAL

i) Social Impact

A lot of criticism arises from this kind of issues especially intersex conditions and failure of gender test in sport matter. Just like what Katrina Karkazis, a senior research scholar at Stanford notes that "concerns about gender seemed to be raised more frequently about African or African-American athletes, an it's not a coincidence. When the public eye gazes on black athletes and judges them against a standard of white femininity, it's much easier to find differences and departure." somehow can trigger a stereotyping standard especially to black athletes. Even in many cases where black skin athletes that seem masculine seem to come under fire more often.

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This trigger is based on a true story by Shanthi Soundarajan who was the first Indian women about to received medal in Olympics. But as a request was made to do gender test, she was found with Androgen Insensitivity Syndrome.

Androgen Insensitivity Syndrome is Testicular Ferminization which is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals.

Risk Factor

Androgen insensitivity syndrome (AIS) mostly affects males. It is known to be caused by mutations, or errors, in a gene for the androgen receptor. This gene is located on the X chromosome, which is one of the sex chromosomes.

Females have two copies of the X chromosome, whereas males have one copy of the X chromosome and one copy of the Y chromosome. Females pass on one of their X chromosomes to male children, whereas males pass on their only Y chromosome to male children. Therefore, females who have a mutated androgen receptor gene on one of their X chromosomes have a 50% risk of passing the mutated gene to a son, and having a son who is affected with AIS. Women who have mutated androgen receptors on both X chromosome have a 100% risk of passing the mutation to a son. On the other hand, males who have a mutated androgen receptor gene on their X chromosome are not at risk for passing the mutation to a son. Therefore, this is a condition that is genetically inherited by an individual from his or her mother.

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2. CLINICAL

i) Signs & Symptom

Androgen insensitivity syndrome does effect the hormone level inside our bodies. Example is high androgen levels in female where it lead to irregular
or absent menstrual cycle. This is due to the body is not capable to respond to the testosterone and since it is a precursor to estrogen, the body would probably suffers to low level of estrogen hormone (female hormone). This could be the reason why the athlete doesn't possess female sexual characteristics.

ii) Diagnosis of Gender Test

-Physical exam where it involves anatomical distinctions by gynecologist as they would check directly for primary and secondary sex characteristics. Example such as female sex organs, chest hair and menstruation.
-Genetic information where it gives us the information about chromosome present in the body, where XX (female) and XY (male) from karyotype. Though, the assumptions happen to only male possess Y chromosome but that doesn't always accurate. Some woman such as Indian athlete mentioned in the trigger owned Y chromosome due to genetically abnormal. Though she owned the Y chromosome, she still has a vagina, breasts and etc. But why she's not consider as a male in the first place? Possibilities of this condition can be caused by the activator on the Y chromosome known as SRY gene. Doctor will usually examining the SRY gene to see if it's absent, mutated, damaged or disabled.

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1. BIOLOGICAL

Based on the trigger, the athlete was stated to suffer abnormal Y chromosome that present in her gene. She was reported not possessed female sexual characteristics. A normal female should own only XX chromosome but in her case, she had more than allowed Y chromosome. SRY gene is associated to the development of fetus into male. It's located on the Y chromosome that acts as s switch to determine the fetus gender as male. However,  having SRY gene doesn't always make us a man.  Based on the article entitled "Am I Not a Woman?" by Melonyce McAfee stated that some people born with a Y chromosome develop a complications as a result from a defect in one of the genes that allow the body to process testosterone.

This condition is known as Androgen Insensitivity syndrome and might possess XY chromosome. Female with this conditions might develop testes but she will still end up as a woman because her body never respond to the testosterone she's producing. The symptom are such as hairless genitalia and the absence of menstruation. Though, we discovered that the athlete mentioned in the trigger is known as Santhi Soundarajan. There are reports that mentioned Soundarajan has not attained puberty. But based on the trigger, it was claimed that she doesn't possess female sexual characteristic. This is probably due to her physical appearance as she has deep voice and flat chest.

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We'd agreed to study on the  2 possible causes of the abnormal Y chromosome as stated in the trigger. The focus scope is androgen insensitivity syndrome. It can be fully express or in partial condition.  The second focus is intersex condition. According to UN Office of the High Commissioner for Human Rights, intersex, "don't fit the typical definitions for male and female bodies." Intersex is categorized as sex development disorders. The question is how does Androgen insensitivity syndrome & intersex relate to each other? As we all know, androgen insensitivity reduce the ability of our body to respond to androgen hormones such as testosterone. Testosterone is a precursor to estrogen hormone in female. Thus, androgen insensitivity syndrome do effect the hormone level inside our bodies and may lead to possibility of intersex condition.