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Androgen Insensitivity

Group B106

Biology

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AIS

Androgen receptor deficiency

Androgen resistance syndrome

AR deficiency

DHTR deficiency

Dihydrotestosterone receptor deficiency

Testicular feminization

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Androgen insensitivitysyndrome is a genetic disorderin which the XY fetus isunresponsive (insensitive) toandrogens. Androgens are malehormones, such as testosterone.A baby with androgeninsensitivity syndrome is bornexternally like a normal girl.However, internally they have ashort blind-pouch vagina, andno ovaries, fallopian tubes or womb (uterus). The testes are inthe inguinal canal or abdomen.

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This individual has an Xand a Y chromosome.

She has testes thatproduce testosterone,but a mutation in herandrogen receptor

genes makes her cellsunable to respond totestosterone, resulting inherfemale appearance.

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These are based on Phenotype

Complete Androgen (CAIS)

Partial Androgen (PAIS)

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Signs andsymptoms of CAIS (complete androgen insensitivitysyndrome):

About 50% of all babies born with CAIS eventually have

a hernia due to undescended testes. The hernia is the firstindication of possible androgen insensitivity syndrome -there are no external signs in newborn babies.

Signs andsymptoms, which mostly appear during pubertyinclude:

No or extremely little underarm and pubic hair

Acne, which is linked to puberty, does not occur Females do not start having menstrual periods because

they have no ovaries Females with CAIS have a shorter-than-normal vagina

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Signs andsymptoms of PAIS (partial androgeninsensitivity syndrome):

A child's level of androgen insensitivity dictateshow he/she develops. Those whose insensitivityis higher will develop as girls duringadolescence, while those whose insensitivity is

low will develop as boys (with perhaps somedevelopment of breasts).

Sometimes a PAIS baby may initially bebrought up as a son, but become more female

as puberty arrives. Hormone therapy may helpdirect puberty towards a specific gender.Parents may choose to postpone puberty untilthe child is old enough to decide forhimself/herself

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http://ghr.nlm.nih.gov/condition/androg

en-insensitivity-syndrome

http://emedicine.medscape.com/article/924996-treatment

Byers. A., (211). Biology Life on Earth, 3

edicion, Pearson Education, 1301sansome street, San Francisco.

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