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Androgen insensitivity syndrome (AIS)



Androgen insensitivity syndrome (AIS) Complications


People with androgen insensitivity syndrome may develop varying problems due to many distinct mutations. Clinical manifestations are divided into six phenotypes: 1) Complete Androgen insensitivity syndrome is a condition wherein women have complete female appearance, but without a uterus, ovaries and fallopian tubes. They also have testes in the abdomen and develop minimal pubic hair during puberty. 2) Incomplete or Partial Androgen insensitivity syndrome (PAID) is a condition wherein a female has total female appearance but with slightly “virilized” genitalia, sparse androgenic hair and testes in her abdomen. 3) Reifenstein syndrome involves small testes in the scrotum or abdomen, ambiguous genitalia, sparse androgenic hair and gynecomastia during puberty. 4) Infertile male syndrome is a condition wherein a male has a normal male body externally and internally but has reduced sperm production and reduced fertility. They have normal virilization and moderate androgenic hair. 5) Undervirilized fertile male syndrome is where a male has complete male internal and external genitalia, but with a small penis, normal androgenic hair, normal sperm count, normal or reduced fertility and testes in scrotum. 6) x-linked spinal and bulbar muscular atrophy is a condition wherein sufferers have normal male body features and nearly normal fertility. However, they have exaggerated adolescent gynecomastia and adult degenerative muscle disease.


Androgen insensitivity syndrome (AIS) Definition


Androgen insensitivity syndrome (AIS) is also called Androgen resistance syndrome. Androgen insensitivity syndrome is a condition wherein patients suffer from a set of disorders related to sexual differentiation, which results in mutation of the genes encoding the androgen receptor. The nature of problems caused by Androgen insensitivity syndrome varies largely according to the sensitivity and structure of abnormal receptor. Almost all types of Androgen insensitivity syndrome involve infertility and undervirilization in persons of both genders. Women with complete Androgen insensitivity syndrome have female appearance even if they have an undescended testes and 46XY karyotype.


Androgen insensitivity syndrome (AIS) Treatment


The major decision with Androgen insensitivity syndrome is sex of assignment. Parents need to decide if the baby will be a boy or a girl. However, this assignment will depend on various factors, such as response of phallus to testosterone, surgical reconstruction outcome and pubertal development.


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