shalini.ravi
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guys in a genotypic male with 5 alpha reductase defy and another genotypic male with androgen R insensitivity wont the clinical presentaion be v similar?without measuring enzyme levels how will u distinguish?pls ans buddies!
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| new_n_lost
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Diagnosis of 5-ARD usually is made in the newborn period when the infant presents with ambiguous genitalia.
In Androgen Insensitivity Syndrome (AIS) 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.
The Next differentiation is at Puberty 5-ARD will have :-
Presentation of males at puberty
- Clear signs of virilization predominate at this age.
- The escutcheon is male in distribution.
- The phallus exhibits definite enlargement.
- The shoulders are relatively broad and the hips are narrow.
- Muscularity and body hair may increase.
- No breast development is generally present.
- A prominent Adam's apple may start to develop.
- The child's voice may begin to deepen.
- The mucosa of the vaginal introitus remains atrophic in appearance (remaining red) rather than the thickened pink of estrogen-stimulated mucosa.
While in AIS the dude maybe living as a Female n never know abt it until he/she presents with Primary Amenorrhea. In adolescent patients, notable findings include inguinal masses. As with newborns, these masses may or may not be associated with hernias. In addition, adolescent patients have no pubic and axillary hair, with otherwise scanty body hair, and lack acne, although breast is normal as a result of conversion of testosterone to estradiol. these Pts have a lot of SEX & Gender issues some may choose to live as Females n other may choose to live as Males.
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| keepgoing
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| shalini.ravi
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thanks a million NNL !
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mediocricity aint my style
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| epica
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thanks a million NNL
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| new_n_lost
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"never argue with a fool, they'll bring you down to their level and beat you with experience" FORUM RULES-- Those who believe in telekinesis, raise my hand. I get enough exercise just by pushing my luck --P4U World.." The pure and simple truth is rarely pure and never simple."
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