Androgen insensitivity refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy. This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells that receives the androgen hormone and instructs the cell in how to use it.

Partial androgen insensitivity syndrome (pais) is part of a spectrum of syndromes that also includes androgen insensitivity syndrome (AIS) and mild androgen insensitivity syndrome (mais). In each case, the development of the reproductive and genital organs of the fetus is affected, as a result of the gene mutation.

During the first 10 weeks of pregnancy, the external anatomy of male and female embryos appears to be identical. The presence or absence of the male sex hormone testosterone determines whether male or female genitalia develop. In partial androgen insensitivity syndrome, the development of the external genitals will be intermediate between male and female (ambiguous genitalia).

Each of these forms of AIS is also a hereditary form of male pseudohermaphroditism, in which the baby is born with testes and possesses both male and female characteristics. The disorder is inherited as an X-linked, recessive trait.

Incomplete testicular feminization occurs in phenotypically normal women with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and sparse or absent pubic hair and axillary hair.

• These patients have male karyotype (XY) and negative sex chromatin. The gonad (undescended testis) may be intraabdominal, inguinal, or labial.
• The incidence of testicular feminization syndrome is reported to range from one in 2,000 to one in 62,400.
• Individuals with are born phenotypically female, without any signs of genital masculinization, despite having a 46,XY karyotype.
• Symptoms of Incomplete Testicular Feminisation do not appear until puberty, which may be slightly delayed, but is otherwise normal except for absent menses and diminished or absent secondary terminal hair.
• Axillary hair (i.e. armpit hair) fails to develop in one-third of all cases.
• External genitalia is normal, although the labia and clitoris are sometimes underdeveloped.
• Vaginal depth varies widely for incomplete testicular feminization women, but is typically shorter than unaffected women. One study of eight women with incomplete testicular feminization measured the average vaginal depth to be 5.9 cm.
• The gonads in these women are not ovaries, but instead, are testes; during the embryonic stage of development, testes form in an androgen-independent process that occurs due to the influence of the SRY gene on the Y chromosome.

Symptoms
Normal external genitalia,A vagina of variable depth,Absent uterus,Sparse or absent pubic hair and axillary hair
Conditions
Male pseudohermaphroditism that occurs in phenotypically normal women
Drugs
Genitoplasty,Gonadectomy in relation to tumor risk,Hormone replacement therapy,Genetic and psychological counseling

Androgen insensitivity syndrome is caused by mutations in the AR gene and is inherited in an X-linked recessive pattern.

Management of Incomplete Testicular Feminization is currently limited to symptomatic management; methods to correct a malfunctioning androgen receptor protein that results from an AR gene mutation are not currently available.

• Areas of management include sex assignment, genitoplasty, gonadectomy in relation to tumor risk, hormone replacement therapy, and genetic and psychological counseling.
• Non-consensual interventions are often performed, although general awareness of the resulting psychological traumatization is rising.
• Most individuals with incomplete testicular feminization are incomplete testicular feminization as females.
• They are born phenotypically female and usually have a heterosexual female gender identity.
• Dilation therapy: Most cases of vaginal hypoplasia associated with incomplete testicular feminization can be corrected using non-surgical pressure dilation methods.
• Gonadectomy: While it is often recommended that women with incomplete testicular feminization eventually undergo gonadectomy to mitigate cancer risk, there are differing opinions regarding the necessity and timing of gonadectomy.
• Hormone replacement therapy: Some have hypothesized that supraphysiological levels of estrogen may reduce the diminished bone mineral density associated with Incomplete Testicular Feminisation
• Counseling: It is no longer common practice to hide a diagnosis of incomplete testicular feminization from the affected individual or her family. Parents of children with Incomplete Testicular Feminization need considerable support in planning and implementing disclosure for their child once the diagnosis has been established.
• Neovaginal construction: Many surgical procedures have been developed to create a neovagina, but none of them is ideal. Surgical intervention should only be considered after non-surgical pressure dilation methods have failed to produce a satisfactory result.

Symptoms
Normal external genitalia,A vagina of variable depth,Absent uterus,Sparse or absent pubic hair and axillary hair
Conditions
Male pseudohermaphroditism that occurs in phenotypically normal women
Drugs
Genitoplasty,Gonadectomy in relation to tumor risk,Hormone replacement therapy,Genetic and psychological counseling

Androgen insensitivity (testicular feminization) syndrome or Incomplete Testicular Feminization is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal women with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and sparse or absent pubic hair and axillary hair.

• These patients have male karyotype (XY) and negative sex chromatin. The gonad (undescended testis) may be intraabdominal, inguinal, or labial.
• The incidence of testicular feminization syndrome is reported to range between one in 2,000 to one in 62,400
• Individuals with are born phenotypically female, without any signs of genital masculinization, despite having a 46,XY karyotype.
• Symptoms of incomplete testicular feminization, do not appear until puberty, which may be slightly delayed, but is otherwise normal except for absent menses and diminished or absent secondary terminal hair.
• High maternal age is an associated risk factor with this disorder.
• This condition is more often found in female(identify themselves as females).
• There is no age-related risk factor, however, there is a lack of symptoms at an early age, while there is a high risk of testicular cancer after puberty due to the hormonal changes in the body.
• This disease does not have any ethnic or racial predisposition. However, studies show that the incidence is more commonly seen in the middle east and western Europe in aged pregnancies

Symptoms
Normal external genitalia,A vagina of variable depth,Absent uterus,Sparse or absent pubic hair and axillary hair
Conditions
Male pseudohermaphroditism that occurs in phenotypically normal women
Drugs
Genitoplasty,Gonadectomy in relation to tumor risk,Hormone replacement therapy,Genetic and psychological counseling

Incomplete testicular feminization syndrome is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal women with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and sparse or absent pubic hair and axillary hair.

• Management of Incomplete Testicular Feminisation is currently limited to symptomatic management; methods to correct a malfunctioning androgen receptor protein that results from an AR gene mutation are not currently available.
• Areas of management include sex assignment, genitoplasty, gonadectomy in relation to tumor risk, hormone replacement therapy, and genetic and psychological counseling.
• Non-consensual interventions are still often performed, although general awareness on the resulting psychological traumatization is rising.
• Most individuals with incomplete testicular feminization are as incomplete testicular feminization as females.
• They are born phenotypically female and usually have a heterosexual female gender identity.
• Dilation therapy: Most cases of vaginal hypoplasia associated with incomplete testicular feminization can be corrected using non-surgical pressure dilation methods.
• Gonadectomy: While it is often recommended that women with incomplete testicular feminization eventually undergo gonadectomy to mitigate cancer risk, there are differing opinions regarding the necessity and timing of gonadectomy.
• Hormone replacement therapy: Some have hypothesized that supraphysiological levels of estrogen may reduce the diminished bone mineral density associated with Incomplete Testicular Feminization.
• Counseling: It is no longer common practice to hide a diagnosis of incomplete testicular feminization from the affected individual or her family. Parents of children with Incomplete Testicular Feminization need considerable support in planning and implementing disclosure for their child once the diagnosis has been established.

Symptoms
Normal external genitalia,A vagina of variable depth,Absent uterus,Sparse or absent pubic hair and axillary hair
Conditions
Male pseudohermaphroditism that occurs in phenotypically normal women
Drugs
Genitoplasty,Gonadectomy in relation to tumor risk,Hormone replacement therapy,Genetic and psychological counseling