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Old 12-10-2010
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Question Karyotype of this amenrrhoic female patient?

An 18-year-old female presents to the gynecology clinic, concerned because she has never had a menstrual period. A physical exam reveals an absence of axillary and pubic hair. The patient has breast tissue present bilaterally. A pelvic exam reveals the vagina ending in a blind pouch. A bimanual exam reveals an absence of cervix, uterus, and ovaries. What is the most likely karyotype of this patient?


A 45, XO
B 46, XX
C 46, XY
E 47, XYY
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Default not that confusing

it is one of easiest qs. karyotype is xy. androgen insensitivity syndrome.

Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does not significantly impair female genital or sexual development. As such, the insensitivity to androgens is only clinically significant when it occurs in genetic males (i.e. individuals with a Y chromosome, or more specifically, an SRY gene). Clinical phenotypes in these individuals ranges from a normal male habitus with mild spermatogenic defect or reduced secondary terminal hair, to a full female habitus, despite the presence of a Y chromosom.
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Old 12-10-2010
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Default

Quote:
Originally Posted by drahmednawaz View Post
it is one of easiest qs. karyotype is xy. androgen insensitivity syndrome.

Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does not significantly impair female genital or sexual development. As such, the insensitivity to androgens is only clinically significant when it occurs in genetic males (i.e. individuals with a Y chromosome, or more specifically, an SRY gene). Clinical phenotypes in these individuals ranges from a normal male habitus with mild spermatogenic defect or reduced secondary terminal hair, to a full female habitus, despite the presence of a Y chromosom.
Nice explanation!
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Old 12-10-2010
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Quote:
Originally Posted by drahmednawaz View Post
it is one of easiest qs. karyotype is xy. androgen insensitivity syndrome.

Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability of the cell to respond to androgens. The unresponsiveness of the cell to the presence of androgenic hormones can impair or prevent the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does not significantly impair female genital or sexual development. As such, the insensitivity to androgens is only clinically significant when it occurs in genetic males (i.e. individuals with a Y chromosome, or more specifically, an SRY gene). Clinical phenotypes in these individuals ranges from a normal male habitus with mild spermatogenic defect or reduced secondary terminal hair, to a full female habitus, despite the presence of a Y chromosom.
Thank you for the full explanation.
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Endocrine-, Reproductive-, Step-1-Questions, Syndromes-Acronyms

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