What is the androgen receptor gene?
The AR gene provides instructions for making a protein called an androgen receptor. Androgens are hormones (such as testosterone) that are important for normal male sexual development before birth and during puberty. Androgen receptors allow the body to respond appropriately to these hormones.
What is the inheritance pattern of AIS?
AIS is inherited in an X-linked recessive pattern. This means the AR gene is located on the X chromosome. Genetic females have two X chromosomes, and genetic males have one X chromosome and one Y chromosome.
What is reifenstein syndrome?
Reifenstein syndrome is a term comprising a heterogeneous group of androgen deficiency syndromes due to X-linked recessive androgen receptor defect in 46, XY men with normal androgen secretion. Females are clinically not affected.
Are people with AIS female?
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.
What do androgen receptors do?
The androgen receptor (AR) is a nuclear receptor that functions as a transcription factor and regulates the development and growth of the prostate. The AR, when bound by a ligand, complexes with DNA at androgen response elements in the promoter region of target genes.
Is AIS dominant or recessive?
Androgen insensitivity syndrome (AIS) is an X-chromosome-linked recessive disorder, being caused by a mutation that is inherited on a single X chromosome.
Is Pais male or female?
Partial androgen insensitivity syndrome (PAIS) is characterized by a full range of external genital virilization and breast development from female to male phenotype, reflecting the functional severity of the AR mutation.
Is Pais genetic?
Partial androgen insensitivity syndrome (PAIS) is a genetic (inherited) condition that occurs when the body can’t respond to male sex hormones (androgens). Testosterone is a male sex hormone. PAIS is a type of androgen insensitivity syndrome.
What is testicular feminization syndrome?
Introduction and objectives: Testicular feminization is the syndrome when a male, genetically XY, because of various abnormalities of the X chromosome, is resistant to the actions of the androgen hormones, which in turn stops the forming of the male genitalia and gives a female phenotype.
Can a man with AIS have a baby?
There are specialist healthcare psychologists who can help people with AIS understand their bodies and sex development. The sex development of people with AIS means they will not be able to become pregnant or make their partner pregnant.
Would a person with androgen insensitivity syndrome have a uterus?
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).