Do people with CAIS have a vagina?
CAIS is not usually obvious from birth because affected babies have female genitals, including a vagina and labia (folds of skin either side of the vaginal opening).
Are people with AIS infertile?
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).
Is androgen insensitivity inherited?
Androgen insensitivity syndrome is an inherited condition passed down by the mother. A baby’s sex is determined at the moment of conception when the mother contributes an X chromosome and the father contributes either an X or a Y chromosome. Testosterone signals an XY fetus to develop male sex organs.
Do people with androgen insensitivity syndrome have a cervix?
Although rare, a few cases of women with CAIS and fully developed Müllerian structures have been reported. In one exceptional case, a 22-year-old with CAIS was found to have a normal cervix, uterus, and fallopian tubes. In an unrelated case, a fully developed uterus was found in a 22-year-old adult with CAIS.
Do people with androgen insensitivity syndrome have ovaries?
A penis does not form or is underdeveloped. This means the child’s genitals may develop as female, or are underdeveloped as male. The child may have have fully or partially undescended testicles. But there will be no womb or ovaries.
Who does androgen insensitivity syndrome affect?
Androgen insensitivity syndrome (AIS) affects the development of a person’s genitals and reproductive organs. The 2 types of AIS are called complete androgen insensitivity syndrome (CAIS) and partial androgen insensitivity syndrome (PAIS). The genitals of a person with CAIS appear female.
Are people with androgen insensitivity male or female?
Androgen insensitivity syndrome is a genetic condition which affects a child’s sexual development before birth and during puberty. People with this syndrome are genetically male (they carry both an X and a Y chromosome), but are born with all or some of the physical traits of a female.
Would a person with androgen insensitivity syndrome have a uterus?
A person with complete AIS appears to be female but has no uterus. They have very little armpit and pubic hair. At puberty, female sex characteristics (such as breasts) develop. However, the person does not menstruate and become fertile.
Can people with androgen insensitivity have periods?
Because people with AIS have a Y chromosome, they do not have a uterus. They will not have periods during puberty, or be able to carry a pregnancy.
What is the karyotype of Swyer syndrome?
Swyer syndrome and complete androgen insensitivity syndrome are disorders of sex development in which patients present a female phenotype and 46,XY karyotype. The authors present a case report of an 18-year-old patient with primary amenorrhea and delayed puberty. The karyotype was 46,XY.
What is complete androgen insensitivity syndrome?
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).
What are the characteristics of Swyer syndrome?
Summary Summary. Swyer syndrome is a condition in which people with one X chromosome and one Y chromosome (normally present in males) have a female appearance. People with Swyer syndrome are typically raised as females, have a female gender identity, have typical female external genitalia, and have a normal uterus and Fallopian tubes.
What are the limitations of the diagnosis of Swyer syndrome?
The diagnosis of Swyer syndrome can be challenging, because visualization of müllerian structures is sometimes difficult and analysis of genetic mutations is not helpful in the majority of cases. Differentiating Swyer syndrome and complete androgen insensitivity syndrome: a diagnostic dilemma J Pediatr Adolesc Gynecol.
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