Care of women with XY karyotype: a clinical practice guideline
Objective To provide an evidence-based guideline for professionals working with XY women. Design Review including patient cases from a Danish fertility clinic. Setting University-associated scientific unit and fertility clinic. Patient(s) Three selected cases. Intervention(s) None. Main Outcome Meas...
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| Veröffentlicht in: | Fertility and sterility 2010-06, Vol.94 (1), p.105-113 |
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| container_title | Fertility and sterility |
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| creator | Jorgensen, Pernille Bach, M.Sc Kjartansdóttir, Kristín Rós, M.Sc Fedder, Jens, M.D., Ph.D |
| description | Objective To provide an evidence-based guideline for professionals working with XY women. Design Review including patient cases from a Danish fertility clinic. Setting University-associated scientific unit and fertility clinic. Patient(s) Three selected cases. Intervention(s) None. Main Outcome Measure(s) Evaluation of etiology, diagnosis, treatment, and associated disorders in XY women. Result(s) Many gene mutations can cause abnormal fetal development leading to androgen insensitivity syndrome or gonadal dysgenesis disorders. Females with these disorders have an XY karyotype but look like girls. They are mostly diagnosed at puberty, and the condition will often lead to serious psychological problems. Increased risk of malignancies and problems with pregnancy and infertility are other aspects that should be considered. This guideline will aid doctors in caring for XY females. Conclusion(s) A precise diagnosis is important, because the treatment possibilities (e.g., use of allogenic oocytes) depend on the subgroup to which the XY female belongs. |
| doi_str_mv | 10.1016/j.fertnstert.2009.02.087 |
| format | Article |
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Design Review including patient cases from a Danish fertility clinic. Setting University-associated scientific unit and fertility clinic. Patient(s) Three selected cases. Intervention(s) None. Main Outcome Measure(s) Evaluation of etiology, diagnosis, treatment, and associated disorders in XY women. Result(s) Many gene mutations can cause abnormal fetal development leading to androgen insensitivity syndrome or gonadal dysgenesis disorders. Females with these disorders have an XY karyotype but look like girls. They are mostly diagnosed at puberty, and the condition will often lead to serious psychological problems. Increased risk of malignancies and problems with pregnancy and infertility are other aspects that should be considered. This guideline will aid doctors in caring for XY females. Conclusion(s) A precise diagnosis is important, because the treatment possibilities (e.g., use of allogenic oocytes) depend on the subgroup to which the XY female belongs.</description><identifier>ISSN: 0015-0282</identifier><identifier>EISSN: 1556-5653</identifier><identifier>DOI: 10.1016/j.fertnstert.2009.02.087</identifier><identifier>PMID: 19361791</identifier><identifier>CODEN: FESTAS</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>androgen insensitivity syndrome ; androgen receptor ; Androgen-Insensitivity Syndrome - diagnosis ; Androgen-Insensitivity Syndrome - genetics ; Androgen-Insensitivity Syndrome - therapy ; Animals ; Biological and medical sciences ; Birth control ; Female ; gonadal dysgenesis ; Gonadal Dysgenesis, 46,XY - diagnosis ; Gonadal Dysgenesis, 46,XY - genetics ; Gonadal Dysgenesis, 46,XY - therapy ; Gynecology. Andrology. Obstetrics ; Humans ; infertility ; Infertility, Female - diagnosis ; Infertility, Female - genetics ; Infertility, Female - therapy ; Internal Medicine ; Karyotyping ; Male ; malignancies ; Medical sciences ; Morris syndrome ; Obstetrics and Gynecology ; Patient Care - methods ; Patient Care - standards ; Practice Guidelines as Topic - standards ; Sterility. Assisted procreation ; Swyer syndrome ; XY females</subject><ispartof>Fertility and sterility, 2010-06, Vol.94 (1), p.105-113</ispartof><rights>American Society for Reproductive Medicine</rights><rights>2010 American Society for Reproductive Medicine</rights><rights>2015 INIST-CNRS</rights><rights>Copyright (c) 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. 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Design Review including patient cases from a Danish fertility clinic. Setting University-associated scientific unit and fertility clinic. Patient(s) Three selected cases. Intervention(s) None. Main Outcome Measure(s) Evaluation of etiology, diagnosis, treatment, and associated disorders in XY women. Result(s) Many gene mutations can cause abnormal fetal development leading to androgen insensitivity syndrome or gonadal dysgenesis disorders. Females with these disorders have an XY karyotype but look like girls. They are mostly diagnosed at puberty, and the condition will often lead to serious psychological problems. Increased risk of malignancies and problems with pregnancy and infertility are other aspects that should be considered. This guideline will aid doctors in caring for XY females. Conclusion(s) A precise diagnosis is important, because the treatment possibilities (e.g., use of allogenic oocytes) depend on the subgroup to which the XY female belongs.</description><subject>androgen insensitivity syndrome</subject><subject>androgen receptor</subject><subject>Androgen-Insensitivity Syndrome - diagnosis</subject><subject>Androgen-Insensitivity Syndrome - genetics</subject><subject>Androgen-Insensitivity Syndrome - therapy</subject><subject>Animals</subject><subject>Biological and medical sciences</subject><subject>Birth control</subject><subject>Female</subject><subject>gonadal dysgenesis</subject><subject>Gonadal Dysgenesis, 46,XY - diagnosis</subject><subject>Gonadal Dysgenesis, 46,XY - genetics</subject><subject>Gonadal Dysgenesis, 46,XY - therapy</subject><subject>Gynecology. Andrology. Obstetrics</subject><subject>Humans</subject><subject>infertility</subject><subject>Infertility, Female - diagnosis</subject><subject>Infertility, Female - genetics</subject><subject>Infertility, Female - therapy</subject><subject>Internal Medicine</subject><subject>Karyotyping</subject><subject>Male</subject><subject>malignancies</subject><subject>Medical sciences</subject><subject>Morris syndrome</subject><subject>Obstetrics and Gynecology</subject><subject>Patient Care - methods</subject><subject>Patient Care - standards</subject><subject>Practice Guidelines as Topic - standards</subject><subject>Sterility. 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Assisted procreation</topic><topic>Swyer syndrome</topic><topic>XY females</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jorgensen, Pernille Bach, M.Sc</creatorcontrib><creatorcontrib>Kjartansdóttir, Kristín Rós, M.Sc</creatorcontrib><creatorcontrib>Fedder, Jens, M.D., Ph.D</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Fertility and sterility</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jorgensen, Pernille Bach, M.Sc</au><au>Kjartansdóttir, Kristín Rós, M.Sc</au><au>Fedder, Jens, M.D., Ph.D</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Care of women with XY karyotype: a clinical practice guideline</atitle><jtitle>Fertility and sterility</jtitle><addtitle>Fertil Steril</addtitle><date>2010-06-01</date><risdate>2010</risdate><volume>94</volume><issue>1</issue><spage>105</spage><epage>113</epage><pages>105-113</pages><issn>0015-0282</issn><eissn>1556-5653</eissn><coden>FESTAS</coden><abstract>Objective To provide an evidence-based guideline for professionals working with XY women. Design Review including patient cases from a Danish fertility clinic. Setting University-associated scientific unit and fertility clinic. Patient(s) Three selected cases. Intervention(s) None. Main Outcome Measure(s) Evaluation of etiology, diagnosis, treatment, and associated disorders in XY women. Result(s) Many gene mutations can cause abnormal fetal development leading to androgen insensitivity syndrome or gonadal dysgenesis disorders. Females with these disorders have an XY karyotype but look like girls. They are mostly diagnosed at puberty, and the condition will often lead to serious psychological problems. Increased risk of malignancies and problems with pregnancy and infertility are other aspects that should be considered. This guideline will aid doctors in caring for XY females. 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| subjects | androgen insensitivity syndrome androgen receptor Androgen-Insensitivity Syndrome - diagnosis Androgen-Insensitivity Syndrome - genetics Androgen-Insensitivity Syndrome - therapy Animals Biological and medical sciences Birth control Female gonadal dysgenesis Gonadal Dysgenesis, 46,XY - diagnosis Gonadal Dysgenesis, 46,XY - genetics Gonadal Dysgenesis, 46,XY - therapy Gynecology. Andrology. Obstetrics Humans infertility Infertility, Female - diagnosis Infertility, Female - genetics Infertility, Female - therapy Internal Medicine Karyotyping Male malignancies Medical sciences Morris syndrome Obstetrics and Gynecology Patient Care - methods Patient Care - standards Practice Guidelines as Topic - standards Sterility. Assisted procreation Swyer syndrome XY females |
| title | Care of women with XY karyotype: a clinical practice guideline |
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