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8/7/2019 Androgen Syndrome
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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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