WBR0119: Difference between revisions

Jump to navigation Jump to search
Newer edit →
VisualWikitext
Created page with "{{WBRQuestion |QuestionAuthor=William J Gibson |ExamType=USMLE Step 1 |Prompt=A 32 year old man is evaluated for infertility after 6 months of failed attempts at conception wi..."
 
No edit summary
Line 2: Line 2:
|QuestionAuthor=William J Gibson
|QuestionAuthor=William J Gibson
|ExamType=USMLE Step 1
|ExamType=USMLE Step 1
|MainCategory=Genetics
|SubCategory=Reproductive
|MainCategory=Genetics
|SubCategory=Reproductive
|MainCategory=Genetics
|SubCategory=Reproductive
|MainCategory=Genetics
|MainCategory=Genetics
|MainCategory=Genetics
|SubCategory=Reproductive
|MainCategory=Genetics
|SubCategory=Reproductive
|MainCategory=Genetics
|SubCategory=Reproductive
|MainCategory=Genetics
|SubCategory=Reproductive
|MainCategory=Genetics
|MainCategory=Genetics
|SubCategory=Reproductive
|Prompt=A 32 year old man is evaluated for infertility after 6 months of failed attempts at conception with his wife.  His wife has previously conceived and given birth to a healthy child in a separate relationship.  On physical exam, the patient has less muscle mass than most males, gynecomastia, and a lack of chest hair. Laboratory studies are significant for increased LH, increased FSH, low testosterone, low inhibin and high estrogen.  What is the most likely chromosomal status of this patient?
|Prompt=A 32 year old man is evaluated for infertility after 6 months of failed attempts at conception with his wife.  His wife has previously conceived and given birth to a healthy child in a separate relationship.  On physical exam, the patient has less muscle mass than most males, gynecomastia, and a lack of chest hair. Laboratory studies are significant for increased LH, increased FSH, low testosterone, low inhibin and high estrogen.  What is the most likely chromosomal status of this patient?
|Explanation=The patient in this vignette has Klinefelter’s syndrome.  Klinefelter’s syndrme is caused by the presence of two X chromosomes along with a single Y chromosome.  These individuals are phenotypically male but have hypogonadism.  Klinefelter’s syndrome is often diagnosed during workup for infertility.  The human genome has two copies of 22 autosomes (44 total) and two sex chromosomes, making 46 chromosomes total.  Klinefelter’s syndrome patients have one extra X.
|Explanation=The patient in this vignette has Klinefelter’s syndrome.  Klinefelter’s syndrme is caused by the presence of two X chromosomes along with a single Y chromosome.  These individuals are phenotypically male but have hypogonadism.  Klinefelter’s syndrome is often diagnosed during workup for infertility.  The human genome has two copies of 22 autosomes (44 total) and two sex chromosomes, making 46 chromosomes total.  Klinefelter’s syndrome patients have one extra X.


'''Educational Objective:''' Klinefelter’s sydrome is caused by an extra X chromosome in an otherwise normal male.
'''Educational Objective:'''  


'''References:'''  First Aid 2012 page 539
'''References:'''   
|AnswerA=22, XO
|AnswerA=22, XO
|AnswerAExp='''Incorrect''' - The human genome contains 2 copies of 22 autosomes (44 total) plus two sex chromosomes normally=46.
|AnswerAExp=The human genome contains 2 copies of 22 autosomes (44 total) plus two sex chromosomes normally=46.
|AnswerB=23, XXY
|AnswerB=23, XXY
|AnswerBExp='''Incorrect''' - The human genome contains 2 copies of 22 autosomes (44 total) plus two sex chromosomes normally=46.  
|AnswerBExp=The human genome contains 2 copies of 22 autosomes (44 total) plus two sex chromosomes normally=46.
|AnswerC=45,XO
|AnswerC=45,XO
|AnswerCExp='''Incorrect''' - 45,XO is the karyotype seen in a Turner Syndrome patient.
|AnswerCExp=45,XO is the karyotype seen in a [[Turner syndrome]] patient.
|AnswerD=46,XX/XY
|AnswerD=46,XX/XY
|AnswerDExp='''Incorrect''' - This karyotype refers to a rare mosaic chromosomal abnormality which causes some cells in the body to have XX chromosomes and some to have XY chromosomes.  This karyotype causes intersex conditions.
|AnswerDExp=This karyotype refers to a rare mosaic chromosomal abnormality which causes some cells in the body to have XX chromosomes and some to have XY chromosomes.  This karyotype causes intersex conditions.
|AnswerE=47,XXY
|AnswerE=47,XXY
|AnswerEExp='''Correct''' - This karyotype is the karyotype of Klinefelters’ syndrome.
|AnswerEExp=This karyotype is the karyotype of Klinefelters’ syndrome.
|EducationalObjectives=[[Klinefelter’s sydrome]] is caused by an extra X chromosome in an otherwise normal male.
|References=First Aid 2014 page 574
First Aid 2012 page 539
|RightAnswer=E
|RightAnswer=E
|WBRKeyword=Klinefelter syndrome, Sex, Chromosome, Genetics, Reproductive, Gender, Infertility
|Approved=Yes
|Approved=Yes
}}
}}

Revision as of 13:13, 16 June 2014
Author PageAuthor::William J Gibson
Exam Type ExamType::USMLE Step 1
Main Category MainCategory::Genetics
Sub Category SubCategory::Reproductive
Prompt [[Prompt::A 32 year old man is evaluated for infertility after 6 months of failed attempts at conception with his wife. His wife has previously conceived and given birth to a healthy child in a separate relationship. On physical exam, the patient has less muscle mass than most males, gynecomastia, and a lack of chest hair. Laboratory studies are significant for increased LH, increased FSH, low testosterone, low inhibin and high estrogen. What is the most likely chromosomal status of this patient?]]
Answer A AnswerA::22, XO
Answer A Explanation AnswerAExp::The human genome contains 2 copies of 22 autosomes (44 total) plus two sex chromosomes normally=46.
Answer B AnswerB::23, XXY
Answer B Explanation AnswerBExp::The human genome contains 2 copies of 22 autosomes (44 total) plus two sex chromosomes normally=46.
Answer C AnswerC::45,XO
Answer C Explanation [[AnswerCExp::45,XO is the karyotype seen in a Turner syndrome patient.]]
Answer D AnswerD::46,XX/XY
Answer D Explanation AnswerDExp::This karyotype refers to a rare mosaic chromosomal abnormality which causes some cells in the body to have XX chromosomes and some to have XY chromosomes. This karyotype causes intersex conditions.
Answer E AnswerE::47,XXY
Answer E Explanation AnswerEExp::This karyotype is the karyotype of Klinefelters’ syndrome.
Right Answer RightAnswer::E
Explanation [[Explanation::The patient in this vignette has Klinefelter’s syndrome. Klinefelter’s syndrme is caused by the presence of two X chromosomes along with a single Y chromosome. These individuals are phenotypically male but have hypogonadism. Klinefelter’s syndrome is often diagnosed during workup for infertility. The human genome has two copies of 22 autosomes (44 total) and two sex chromosomes, making 46 chromosomes total. Klinefelter’s syndrome patients have one extra X.

Educational Objective:

References:
Educational Objective: Klinefelter’s sydrome is caused by an extra X chromosome in an otherwise normal male.
References: First Aid 2014 page 574 First Aid 2012 page 539]]

Approved Approved::Yes
Keyword WBRKeyword::Klinefelter syndrome, WBRKeyword::Sex, WBRKeyword::Chromosome, WBRKeyword::Genetics, WBRKeyword::Reproductive, WBRKeyword::Gender, WBRKeyword::Infertility
Linked Question Linked::
Order in Linked Questions LinkedOrder::
Retrieved from "https://www.wikidoc.org/index.php?title=WBR0119&oldid=978484"