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Old 10-31-2012
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Question Androgen insensitivity versus 5-alpha Reductase Deficiency

hi friends
both are causes of primary amenorrhea with male genotype. what are exam clues to ans one from another ?
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Old 10-31-2012
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Androgen Insensitivy syndrome will appear phenotypically female due resistance to testosterone, will have no pubic or axillary hair (remember hair depends on testosterone)

Will have testicles

5 Alpha reductase deficiency is a lack of the more potent DHT (Dihydrotestosterone) which is the hormone necessary for the development of male EXTERNAL genitalia (that is the penis, testicles, and prostate)

This dude will have HAIR both pubic and axillary hair because these depend on testosterone and will have a rudimentary penis, sometimes will also have a vagina.

the main difference in this case is:

Male Genotype? XY? NO HAIR? = Androgen insensitivity syndrome
Male Genotype? XY? Hair?= 5 alpha reductase deficiency
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awesome !
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Probably my man Novo will give both of us a more detailed explanation, but that technique i just told you works for me, because in the end all these causes of amenorrhea can get mixed up and confuse us.

Also during puberty , androgen insensitivity syndrome dudes will appear as females, whereas 5 alpha reductase deficiency will look manly with broad shoulders and such.
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tyagee has started the same thread before here
Androgen Insensitivity versus 5 alpha Reductase Deficiency

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XpaezX has explained it so beautifully.

Here are my 2 cents:

Quote:
Androgen Insensitivity Syndrome patients do not have functional androgen receptors so they'll present with Primary amenorrhoea at puberty. In newborns with complete androgen insensitivity syndrome (CAIS), the most frequent initial finding is unilateral or bilateral masses in the inguinal canals that are found to be testes during surgery.
Adolescent patients have no pubic and axillary hair, with otherwise scanty body hair, and lack acne, although breasts are fully developed as a result of conversion of testosterone to estradiol. complete androgen insensitivity syndrome have female external genitalia with normal labia, clitoris, and vaginal introitus.
Affected individuals have normal testes with normal production of testosterone and normal conversion to dihydrotestosterone (DHT), which differentiates this condition from 5-alpha reductase deficiency. Because the testes produce normal amounts of müllerian-inhibiting factor (MIF), also known as müllerian-inhibiting substance (MIS) or anti-müllerian hormone/factor (AMH/AMF), affected individuals do not have fallopian tubes, a uterus, or a proximal (upper) vagina.
This results in the phenotype of prenatal undervirilization of external genitalia, absence of pubic and axillary hair, lack of acne, and absence of voice changes at puberty.
They have high levels of testosterone (high as compared to a normal male), estrogen & LH.
The standard of care is an orchidectomy to prevent possible malignant degeneration of the testes with hormone therapy almost always consists of estrogen replacement.
Quote:
5-alpha reductase deficiency patients have increased production of testosterone which binds intact receptors at puberty and will begin to display secondary male sex characteristics along with Primary amenorrhoea. Most individuals with 5-alpha-reductase type 2 deficiency are identified in the neonatal period because of ambiguous genitalia.
Individuals with 5-ARD can have normal male external genitalia, ambiguous genitalia, or normal female genitalia. They are born with male gonads, including testicles and Wolffian structures, but usually have female primary sex characteristics. As a consequence, they are often raised as girls, but usually have a male gender identity.
Wolffian duct differentiation is normal with seminal vesicles, vasa differentia, epididymides, and ejaculatory ducts. The prostate is small, nonpalpable, and rudimentary in adulthood. Neither benign prostate hyperplasia (BPH) nor prostate cancer has been reported in these patients.
At puberty, individuals often have primary amenorrhoea with virilization. This may include descending of the testes, facial/body hair , deepening of the voice, and enlargement of the clitoris/rudimentary.The phallus exhibits definite enlargement penis (Penis @12 ). The shoulders are relatively broad and the hips are narrow.
Muscularity and body hair may increase. Generally, no breast development is present. A prominentia laryngea (Adam's apple) may start to develop.
In adulthood, individuals do not experience male-pattern baldness. Rising testosterone levels at the start of puberty (around age twelve) are able to generate sufficient levels of DHT. In adulthood, the 5-alpha-reductase type 2 isoenzyme is expressed in high levels in the prostate, genital skin, epididymis, seminal vesicle, and liver.
Elevated serum testosterone-to-DHT ratio (T/DHT) is the hallmark of 5-alpha-reductase type 2 deficiency. Typically, testosterone levels are normal (also normal estrogen & LH) and DHT levels are low to undetectable.
I hope this satisfies tyagee
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Last edited by Novobiocin; 10-31-2012 at 06:17 PM.
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