GTS5:Turner syndrome - Revision history

Kathleen.Bone: /* Related Terminology */

2025-06-02T18:41:23Z

Related Terminology

← Older revision		Revision as of 13:41, 2 June 2025
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	\|+		\|+
	\|Acceptable		\|Acceptable
	\|45,X syndrome; Ullrich-Turner ~~syndromeNot recommended: 45,XO~~ syndrome		\|45,X syndrome; Ullrich-Turner syndrome
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|~~N/A~~		\|45,XO syndrome
	\|}		\|}

Bailey.Glen at 21:21, 25 May 2025

2025-05-25T21:21:11Z

← Older revision		Revision as of 16:21, 25 May 2025
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	==Related Terminology==		==Related Terminology==

	{\| class="wikitable"		{\| class="wikitable"
	\|+		\|+
	\|Acceptable		\|Acceptable
	\|45,X syndrome; Ullrich-Turner syndrome		\|45,X syndrome; Ullrich-Turner syndromeNot recommended: 45,XO syndrome
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|~~45,XO syndrome~~		\|N/A
	\|}		\|}

Bailey.Glen at 19:58, 25 May 2025

2025-05-25T19:58:06Z

← Older revision		Revision as of 14:58, 25 May 2025
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			[[GTS5:Table_of_Contents\|Genetic Tumour Syndromes (Who Classification, 5th ed.)]]
	{{Under Construction}}		{{Under Construction}}
	<span style="color:#0070C0">(''General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-style manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see'' </span><u>''[[Author_Instructions]]''</u><span style="color:#0070C0"> ''and [[Frequently Asked Questions (FAQs)\|<u>FAQs</u>]] as well as contact your [[Leadership\|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].)''</span>		<span style="color:#0070C0">(''General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-style manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ <u>HGVS-based nomenclature for variants</u>], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see'' </span><u>''[[Author_Instructions]]''</u><span style="color:#0070C0"> ''and [[Frequently Asked Questions (FAQs)\|<u>FAQs</u>]] as well as contact your [[Leadership\|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>].)''</span>
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	Kathleen M. Bone, PhD, Medical College of Wisconsin		Kathleen M. Bone, PhD, Medical College of Wisconsin
	==WHO Classification of Disease==		==WHO Classification of Disease==

	{\| class="wikitable"		{\| class="wikitable"
	!Structure		!Structure
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	\|-		\|-
	\|Book		\|Book
	\|Genetic ~~Tumor~~ Syndromes (5th ed.)		\|Genetic Tumour Syndromes (5th ed.)
	\|-		\|-
	\|Category		\|Category
	\|DNA repair and genomic ~~instability~~		\|DNA repair and genomic stability
	\|-		\|-
	\|Family		\|Family
	\|Chromosomal ~~and~~ non-dysjunction (aneuploidy) syndromes		\|Chromosomal non-dysjunction (aneuploidy) syndromes
	\|-		\|-
	\|Type		\|Type
	\|~~N/A~~		\|Turner syndrome
	\|-		\|-
	\|Subtype(s)		\|Subtype(s)
	\|~~Turner Syndrome~~		\|N/A
	\|}		\|}

	==Related Terminology==		==Related Terminology==
	{\| class="wikitable"		{\| class="wikitable"

Kathleen.Bone: /* Links */

2025-03-10T17:54:44Z

Links

← Older revision		Revision as of 12:54, 10 March 2025
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	<br />		<br />
	==Additional Information==		==Additional Information==
	~~Put your text here~~		N/A
	==Links==		==Links==
	Put a link here or anywhere appropriate in this page <span style="color:#0070C0">(''Instructions: Highlight the text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the wiki page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')</~~span~~>		<br />
	==References==		==References==
	<references />		<references />

Kathleen.Bone at 17:53, 10 March 2025

2025-03-10T17:53:53Z

Show changes

Kathleen.Bone: /* Primary Author(s)* */

2025-03-10T17:53:05Z

Primary Author(s)*

Show changes

Jennelleh at 22:31, 29 December 2024

2024-12-29T22:31:37Z

Show changes

Kathleen.Bone: uploaded images

2024-12-11T22:12:03Z

uploaded images

← Older revision		Revision as of 17:12, 11 December 2024
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	==Definition / Description of Disease==		==Definition / Description of Disease==
	Turner Syndrome (TS) is a rare chromosomal disorder resulting from complete or partial loss of the second sex chromosome. The most common clinical manifestations include short stature, ovarian failure, primary or secondary amenorrhea associated with hypergonadotropic hypogonadism, congenital lymphedema of the hands and feet, Madelung deformity of the forearm and wrist, webbed neck, cardiac anomalies such as coarctation of the aorta, bicuspid aortic valves, mitral valve prolapse, hypertension, ischemic heart disease and arteriosclerosis, impaired glucose tolerance, thyroid disease and hearing loss.<ref name=":0">{{Cite journal\|last=Gravholt\|first=Claus H.\|date=2005-11\|title=Clinical practice in Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/16929365\|journal=Nature Clinical Practice. Endocrinology & Metabolism\|volume=1\|issue=1\|pages=41–52\|doi=10.1038/ncpendmet0024\|issn=1745-8366\|pmid=16929365}}</ref><ref>{{Cite journal\|last=Bondy\|first=Carolyn A.\|last2=Bakalov\|first2=Vladimir K.\|date=2006-07\|title=Investigation of cardiac status and bone mineral density in Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/16624607\|journal=Growth hormone & IGF research: official journal of the Growth Hormone Research Society and the International IGF Research Society\|volume=16 Suppl A\|pages=S103–108\|doi=10.1016/j.ghir.2006.03.008\|issn=1096-6374\|pmid=16624607}}</ref><ref>{{Cite journal\|last=Dhooge\|first=Ingeborg J. M.\|last2=De Vel\|first2=E.\|last3=Verhoye\|first3=C.\|last4=Lemmerling\|first4=M.\|last5=Vinck\|first5=B.\|date=2005-03\|title=Otologic disease in turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/15793396\|journal=Otology & Neurotology: Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology\|volume=26\|issue=2\|pages=145–150\|doi=10.1097/00129492-200503000-00003\|issn=1531-7129\|pmid=15793396}}</ref><ref>{{Cite journal\|last=Güngör\|first=N.\|last2=Böke\|first2=B.\|last3=Belgin\|first3=E.\|last4=Tunçbilek\|first4=E.\|date=2000-10\|title=High frequency hearing loss in Ullrich-Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/11039128\|journal=European Journal of Pediatrics\|volume=159\|issue=10\|pages=740–744\|doi=10.1007/pl00008338\|issn=0340-6199\|pmid=11039128}}</ref><ref>{{Cite journal\|last=Zinn\|first=A. R.\|last2=Tonk\|first2=V. S.\|last3=Chen\|first3=Z.\|last4=Flejter\|first4=W. L.\|last5=Gardner\|first5=H. A.\|last6=Guerra\|first6=R.\|last7=Kushner\|first7=H.\|last8=Schwartz\|first8=S.\|last9=Sybert\|first9=V. P.\|date=1998-12\|title=Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1\|url=https://pubmed.ncbi.nlm.nih.gov/9837829\|journal=American Journal of Human Genetics\|volume=63\|issue=6\|pages=1757–1766\|doi=10.1086/302152\|issn=0002-9297\|pmc=1377648\|pmid=9837829}}</ref><ref>{{Cite journal\|last=Sävendahl\|first=L.\|last2=Davenport\|first2=M. L.\|date=2000-10\|title=Delayed diagnoses of Turner's syndrome: proposed guidelines for change\|url=https://pubmed.ncbi.nlm.nih.gov/11035820\|journal=The Journal of Pediatrics\|volume=137\|issue=4\|pages=455–459\|doi=10.1067/mpd.2000.107390\|issn=0022-3476\|pmid=11035820}}</ref> Despite considerable phenotypic variability, short stature and gonadal dysgenesis are the most consistent findings. While individuals with TS may experience impairments in nonverbal developmental skills, they generally have normal intellectual ability.<ref>{{Cite journal\|last=Kesler\|first=Shelli R.\|date=2007-07\|title=Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/17562588\|journal=Child and Adolescent Psychiatric Clinics of North America\|volume=16\|issue=3\|pages=709–722\|doi=10.1016/j.chc.2007.02.004\|issn=1056-4993\|pmc=2023872\|pmid=17562588}}</ref> Turner syndrome should be suspected prenatally when a prenatal ultrasound reveals fetal hydrops, cystic hygroma, or cardiac defects. Approximately 50% of TS patients have monosomy X (45,X), while the remaining 50% exhibit various structural abnormalities of the X chromosome or mosaicism with a normal female or normal male cell line.		Turner Syndrome (TS) is a rare chromosomal disorder resulting from complete or partial loss of the second sex chromosome. The most common clinical manifestations include short stature, ovarian failure, primary or secondary amenorrhea associated with hypergonadotropic hypogonadism, congenital lymphedema of the hands and feet, Madelung deformity of the forearm and wrist, webbed neck, cardiac anomalies such as coarctation of the aorta, bicuspid aortic valves, mitral valve prolapse, hypertension, ischemic heart disease and arteriosclerosis, impaired glucose tolerance, thyroid disease and hearing loss.<ref name=":0">{{Cite journal\|last=Gravholt\|first=Claus H.\|date=2005-11\|title=Clinical practice in Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/16929365\|journal=Nature Clinical Practice. Endocrinology & Metabolism\|volume=1\|issue=1\|pages=41–52\|doi=10.1038/ncpendmet0024\|issn=1745-8366\|pmid=16929365}}</ref><ref>{{Cite journal\|last=Bondy\|first=Carolyn A.\|last2=Bakalov\|first2=Vladimir K.\|date=2006-07\|title=Investigation of cardiac status and bone mineral density in Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/16624607\|journal=Growth hormone & IGF research: official journal of the Growth Hormone Research Society and the International IGF Research Society\|volume=16 Suppl A\|pages=S103–108\|doi=10.1016/j.ghir.2006.03.008\|issn=1096-6374\|pmid=16624607}}</ref><ref>{{Cite journal\|last=Dhooge\|first=Ingeborg J. M.\|last2=De Vel\|first2=E.\|last3=Verhoye\|first3=C.\|last4=Lemmerling\|first4=M.\|last5=Vinck\|first5=B.\|date=2005-03\|title=Otologic disease in turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/15793396\|journal=Otology & Neurotology: Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology\|volume=26\|issue=2\|pages=145–150\|doi=10.1097/00129492-200503000-00003\|issn=1531-7129\|pmid=15793396}}</ref><ref>{{Cite journal\|last=Güngör\|first=N.\|last2=Böke\|first2=B.\|last3=Belgin\|first3=E.\|last4=Tunçbilek\|first4=E.\|date=2000-10\|title=High frequency hearing loss in Ullrich-Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/11039128\|journal=European Journal of Pediatrics\|volume=159\|issue=10\|pages=740–744\|doi=10.1007/pl00008338\|issn=0340-6199\|pmid=11039128}}</ref><ref>{{Cite journal\|last=Zinn\|first=A. R.\|last2=Tonk\|first2=V. S.\|last3=Chen\|first3=Z.\|last4=Flejter\|first4=W. L.\|last5=Gardner\|first5=H. A.\|last6=Guerra\|first6=R.\|last7=Kushner\|first7=H.\|last8=Schwartz\|first8=S.\|last9=Sybert\|first9=V. P.\|date=1998-12\|title=Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1\|url=https://pubmed.ncbi.nlm.nih.gov/9837829\|journal=American Journal of Human Genetics\|volume=63\|issue=6\|pages=1757–1766\|doi=10.1086/302152\|issn=0002-9297\|pmc=1377648\|pmid=9837829}}</ref><ref>{{Cite journal\|last=Sävendahl\|first=L.\|last2=Davenport\|first2=M. L.\|date=2000-10\|title=Delayed diagnoses of Turner's syndrome: proposed guidelines for change\|url=https://pubmed.ncbi.nlm.nih.gov/11035820\|journal=The Journal of Pediatrics\|volume=137\|issue=4\|pages=455–459\|doi=10.1067/mpd.2000.107390\|issn=0022-3476\|pmid=11035820}}</ref> Despite considerable phenotypic variability, short stature and gonadal dysgenesis are the most consistent findings. While individuals with TS may experience impairments in nonverbal developmental skills, they generally have normal intellectual ability.<ref>{{Cite journal\|last=Kesler\|first=Shelli R.\|date=2007-07\|title=Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/17562588\|journal=Child and Adolescent Psychiatric Clinics of North America\|volume=16\|issue=3\|pages=709–722\|doi=10.1016/j.chc.2007.02.004\|issn=1056-4993\|pmc=2023872\|pmid=17562588}}</ref> Turner syndrome should be suspected prenatally when a prenatal ultrasound reveals fetal hydrops, cystic hygroma, or cardiac defects. Approximately 50% of TS patients have monosomy X (45,X), while the remaining 50% exhibit various structural abnormalities of the X chromosome or mosaicism with a normal female or normal male cell line.
			[[File:45,X.png\|center\|thumb\|G-banded chromosome analysis of a PHA-stimulated peripheral blood specimen from a patient with Turner Syndrome and a 45,X karyotype; Courtesy of Wisconsin Diagnostics Laboratories]]
			<br />
			[[File:Ring(X).tif\|center\|thumb\|G-banded chromosome analysis of a PHA-stimulated peripheral blood specimen from a patient with variant Turner syndrome and a karyotype of 46,X,r(X)(p21q22)/45,X; Courtesy of Wisconsin Diagnostics Laboratories]]


	In individuals with mosaic TS and Y chromosomal material, external genitalia may vary from normal male to ambiguous to female with TS characteristics. The Y chromosome, if present, may also be structurally abnormal. A patient with TS showing evidence of virilization is more likely to be mosaic for a Y-containing cell line, which increases the risk for gonadoblastoma.<ref name=":0" /><ref name=":1">{{Cite journal\|last=Gravholt\|first=Claus H.\|last2=Andersen\|first2=Niels H.\|last3=Christin-Maitre\|first3=Sophie\|last4=Davis\|first4=Shanlee M.\|last5=Duijnhouwer\|first5=Anthonie\|last6=Gawlik\|first6=Aneta\|last7=Maciel-Guerra\|first7=Andrea T.\|last8=Gutmark-Little\|first8=Iris\|last9=Fleischer\|first9=Kathrin\|date=2024-06-05\|title=Clinical practice guidelines for the care of girls and women with Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/38748847\|journal=European Journal of Endocrinology\|volume=190\|issue=6\|pages=G53–G151\|doi=10.1093/ejendo/lvae050\|issn=1479-683X\|pmid=38748847}}</ref> Molecular screening for Y chromosomal material is recommended in such cases.		In individuals with mosaic TS and Y chromosomal material, external genitalia may vary from normal male to ambiguous to female with TS characteristics. The Y chromosome, if present, may also be structurally abnormal. A patient with TS showing evidence of virilization is more likely to be mosaic for a Y-containing cell line, which increases the risk for gonadoblastoma.<ref name=":0" /><ref name=":1">{{Cite journal\|last=Gravholt\|first=Claus H.\|last2=Andersen\|first2=Niels H.\|last3=Christin-Maitre\|first3=Sophie\|last4=Davis\|first4=Shanlee M.\|last5=Duijnhouwer\|first5=Anthonie\|last6=Gawlik\|first6=Aneta\|last7=Maciel-Guerra\|first7=Andrea T.\|last8=Gutmark-Little\|first8=Iris\|last9=Fleischer\|first9=Kathrin\|date=2024-06-05\|title=Clinical practice guidelines for the care of girls and women with Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/38748847\|journal=European Journal of Endocrinology\|volume=190\|issue=6\|pages=G53–G151\|doi=10.1093/ejendo/lvae050\|issn=1479-683X\|pmid=38748847}}</ref> Molecular screening for Y chromosomal material is recommended in such cases.

Kathleen.Bone at 21:47, 11 December 2024

2024-12-11T21:47:12Z

← Older revision		Revision as of 16:47, 11 December 2024
Line 26:		Line 26:
	\|}		\|}
	==Definition / Description of Disease==		==Definition / Description of Disease==
	Turner Syndrome (TS) is a rare chromosomal disorder resulting from complete or partial loss of the second sex chromosome. The most common clinical manifestations include short stature, ovarian failure, primary or secondary amenorrhea associated with hypergonadotropic hypogonadism, congenital lymphedema of the hands and feet, Madelung deformity of the forearm and wrist, webbed neck, cardiac anomalies such as coarctation of the aorta, bicuspid aortic valves, mitral valve prolapse, hypertension, ischemic heart disease and arteriosclerosis, impaired glucose tolerance, thyroid disease and hearing loss.<ref name=":0">{{Cite journal\|last=Gravholt\|first=Claus H.\|date=2005-11\|title=Clinical practice in Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/16929365\|journal=Nature Clinical Practice. Endocrinology & Metabolism\|volume=1\|issue=1\|pages=41–52\|doi=10.1038/ncpendmet0024\|issn=1745-8366\|pmid=16929365}}</ref><ref>{{Cite journal\|last=Bondy\|first=Carolyn A.\|last2=Bakalov\|first2=Vladimir K.\|date=2006-07\|title=Investigation of cardiac status and bone mineral density in Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/16624607\|journal=Growth hormone & IGF research: official journal of the Growth Hormone Research Society and the International IGF Research Society\|volume=16 Suppl A\|pages=S103–108\|doi=10.1016/j.ghir.2006.03.008\|issn=1096-6374\|pmid=16624607}}</ref><ref>{{Cite journal\|last=Dhooge\|first=Ingeborg J. M.\|last2=De Vel\|first2=E.\|last3=Verhoye\|first3=C.\|last4=Lemmerling\|first4=M.\|last5=Vinck\|first5=B.\|date=2005-03\|title=Otologic disease in turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/15793396\|journal=Otology & Neurotology: Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology\|volume=26\|issue=2\|pages=145–150\|doi=10.1097/00129492-200503000-00003\|issn=1531-7129\|pmid=15793396}}</ref><ref>{{Cite journal\|last=Güngör\|first=N.\|last2=Böke\|first2=B.\|last3=Belgin\|first3=E.\|last4=Tunçbilek\|first4=E.\|date=2000-10\|title=High frequency hearing loss in Ullrich-Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/11039128\|journal=European Journal of Pediatrics\|volume=159\|issue=10\|pages=740–744\|doi=10.1007/pl00008338\|issn=0340-6199\|pmid=11039128}}</ref><ref>{{Cite journal\|last=Zinn\|first=A. R.\|last2=Tonk\|first2=V. S.\|last3=Chen\|first3=Z.\|last4=Flejter\|first4=W. L.\|last5=Gardner\|first5=H. A.\|last6=Guerra\|first6=R.\|last7=Kushner\|first7=H.\|last8=Schwartz\|first8=S.\|last9=Sybert\|first9=V. P.\|date=1998-12\|title=Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1\|url=https://pubmed.ncbi.nlm.nih.gov/9837829\|journal=American Journal of Human Genetics\|volume=63\|issue=6\|pages=1757–1766\|doi=10.1086/302152\|issn=0002-9297\|pmc=1377648\|pmid=9837829}}</ref><ref>{{Cite journal\|last=Sävendahl\|first=L.\|last2=Davenport\|first2=M. L.\|date=2000-10\|title=Delayed diagnoses of Turner's syndrome: proposed guidelines for change\|url=https://pubmed.ncbi.nlm.nih.gov/11035820\|journal=The Journal of Pediatrics\|volume=137\|issue=4\|pages=455–459\|doi=10.1067/mpd.2000.107390\|issn=0022-3476\|pmid=11035820}}</ref> Despite considerable phenotypic variability, short stature and gonadal dysgenesis are the most consistent findings. While individuals with TS may experience impairments in nonverbal developmental skills, they generally have normal intellectual ability.<ref>{{Cite journal\|last=Kesler\|first=Shelli R.\|date=2007-07\|title=Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/17562588\|journal=Child and Adolescent Psychiatric Clinics of North America\|volume=16\|issue=3\|pages=709–722\|doi=10.1016/j.chc.2007.02.004\|issn=1056-4993\|pmc=2023872\|pmid=17562588}}</ref>Turner syndrome should be suspected prenatally when a prenatal ultrasound reveals fetal hydrops, cystic hygroma, or cardiac defects. Approximately 50% of TS patients have monosomy X (45,X), while the remaining 50% exhibit various structural abnormalities of the X chromosome or mosaicism with a normal female or normal male cell line.		Turner Syndrome (TS) is a rare chromosomal disorder resulting from complete or partial loss of the second sex chromosome. The most common clinical manifestations include short stature, ovarian failure, primary or secondary amenorrhea associated with hypergonadotropic hypogonadism, congenital lymphedema of the hands and feet, Madelung deformity of the forearm and wrist, webbed neck, cardiac anomalies such as coarctation of the aorta, bicuspid aortic valves, mitral valve prolapse, hypertension, ischemic heart disease and arteriosclerosis, impaired glucose tolerance, thyroid disease and hearing loss.<ref name=":0">{{Cite journal\|last=Gravholt\|first=Claus H.\|date=2005-11\|title=Clinical practice in Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/16929365\|journal=Nature Clinical Practice. Endocrinology & Metabolism\|volume=1\|issue=1\|pages=41–52\|doi=10.1038/ncpendmet0024\|issn=1745-8366\|pmid=16929365}}</ref><ref>{{Cite journal\|last=Bondy\|first=Carolyn A.\|last2=Bakalov\|first2=Vladimir K.\|date=2006-07\|title=Investigation of cardiac status and bone mineral density in Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/16624607\|journal=Growth hormone & IGF research: official journal of the Growth Hormone Research Society and the International IGF Research Society\|volume=16 Suppl A\|pages=S103–108\|doi=10.1016/j.ghir.2006.03.008\|issn=1096-6374\|pmid=16624607}}</ref><ref>{{Cite journal\|last=Dhooge\|first=Ingeborg J. M.\|last2=De Vel\|first2=E.\|last3=Verhoye\|first3=C.\|last4=Lemmerling\|first4=M.\|last5=Vinck\|first5=B.\|date=2005-03\|title=Otologic disease in turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/15793396\|journal=Otology & Neurotology: Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology\|volume=26\|issue=2\|pages=145–150\|doi=10.1097/00129492-200503000-00003\|issn=1531-7129\|pmid=15793396}}</ref><ref>{{Cite journal\|last=Güngör\|first=N.\|last2=Böke\|first2=B.\|last3=Belgin\|first3=E.\|last4=Tunçbilek\|first4=E.\|date=2000-10\|title=High frequency hearing loss in Ullrich-Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/11039128\|journal=European Journal of Pediatrics\|volume=159\|issue=10\|pages=740–744\|doi=10.1007/pl00008338\|issn=0340-6199\|pmid=11039128}}</ref><ref>{{Cite journal\|last=Zinn\|first=A. R.\|last2=Tonk\|first2=V. S.\|last3=Chen\|first3=Z.\|last4=Flejter\|first4=W. L.\|last5=Gardner\|first5=H. A.\|last6=Guerra\|first6=R.\|last7=Kushner\|first7=H.\|last8=Schwartz\|first8=S.\|last9=Sybert\|first9=V. P.\|date=1998-12\|title=Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1\|url=https://pubmed.ncbi.nlm.nih.gov/9837829\|journal=American Journal of Human Genetics\|volume=63\|issue=6\|pages=1757–1766\|doi=10.1086/302152\|issn=0002-9297\|pmc=1377648\|pmid=9837829}}</ref><ref>{{Cite journal\|last=Sävendahl\|first=L.\|last2=Davenport\|first2=M. L.\|date=2000-10\|title=Delayed diagnoses of Turner's syndrome: proposed guidelines for change\|url=https://pubmed.ncbi.nlm.nih.gov/11035820\|journal=The Journal of Pediatrics\|volume=137\|issue=4\|pages=455–459\|doi=10.1067/mpd.2000.107390\|issn=0022-3476\|pmid=11035820}}</ref> Despite considerable phenotypic variability, short stature and gonadal dysgenesis are the most consistent findings. While individuals with TS may experience impairments in nonverbal developmental skills, they generally have normal intellectual ability.<ref>{{Cite journal\|last=Kesler\|first=Shelli R.\|date=2007-07\|title=Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/17562588\|journal=Child and Adolescent Psychiatric Clinics of North America\|volume=16\|issue=3\|pages=709–722\|doi=10.1016/j.chc.2007.02.004\|issn=1056-4993\|pmc=2023872\|pmid=17562588}}</ref> Turner syndrome should be suspected prenatally when a prenatal ultrasound reveals fetal hydrops, cystic hygroma, or cardiac defects. Approximately 50% of TS patients have monosomy X (45,X), while the remaining 50% exhibit various structural abnormalities of the X chromosome or mosaicism with a normal female or normal male cell line.

	In individuals with mosaic TS and Y chromosomal material, external genitalia may vary from normal male to ambiguous to female with TS characteristics. The Y chromosome, if present, may also be structurally abnormal. A patient with TS showing evidence of virilization is more likely to be mosaic for a Y-containing cell line, which increases the risk for gonadoblastoma.<ref name=":0" /><ref name=":1">{{Cite journal\|last=Gravholt\|first=Claus H.\|last2=Andersen\|first2=Niels H.\|last3=Christin-Maitre\|first3=Sophie\|last4=Davis\|first4=Shanlee M.\|last5=Duijnhouwer\|first5=Anthonie\|last6=Gawlik\|first6=Aneta\|last7=Maciel-Guerra\|first7=Andrea T.\|last8=Gutmark-Little\|first8=Iris\|last9=Fleischer\|first9=Kathrin\|date=2024-06-05\|title=Clinical practice guidelines for the care of girls and women with Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/38748847\|journal=European Journal of Endocrinology\|volume=190\|issue=6\|pages=G53–G151\|doi=10.1093/ejendo/lvae050\|issn=1479-683X\|pmid=38748847}}</ref> Molecular screening for Y chromosomal material is recommended in such cases.		In individuals with mosaic TS and Y chromosomal material, external genitalia may vary from normal male to ambiguous to female with TS characteristics. The Y chromosome, if present, may also be structurally abnormal. A patient with TS showing evidence of virilization is more likely to be mosaic for a Y-containing cell line, which increases the risk for gonadoblastoma.<ref name=":0" /><ref name=":1">{{Cite journal\|last=Gravholt\|first=Claus H.\|last2=Andersen\|first2=Niels H.\|last3=Christin-Maitre\|first3=Sophie\|last4=Davis\|first4=Shanlee M.\|last5=Duijnhouwer\|first5=Anthonie\|last6=Gawlik\|first6=Aneta\|last7=Maciel-Guerra\|first7=Andrea T.\|last8=Gutmark-Little\|first8=Iris\|last9=Fleischer\|first9=Kathrin\|date=2024-06-05\|title=Clinical practice guidelines for the care of girls and women with Turner syndrome\|url=https://pubmed.ncbi.nlm.nih.gov/38748847\|journal=European Journal of Endocrinology\|volume=190\|issue=6\|pages=G53–G151\|doi=10.1093/ejendo/lvae050\|issn=1479-683X\|pmid=38748847}}</ref> Molecular screening for Y chromosomal material is recommended in such cases.
	==Synonyms / Terminology==		==Synonyms / Terminology==
	45,X Syndrome, Monosomy X, Variant Turner Syndrome, Mosaic Turner Syndrome, Congenital Ovarian Hypoplasia Syndrome (historical), Ullrich-Turner Syndrome (historical), Bonnevie-Ullrich syndrome (historical), 45,XO (historical, not recommended) ~~<span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>~~		45,X Syndrome, Monosomy X, Variant Turner Syndrome, Mosaic Turner Syndrome, Congenital Ovarian Hypoplasia Syndrome (historical), Ullrich-Turner Syndrome (historical), Bonnevie-Ullrich syndrome (historical), 45,XO (historical, not recommended)
	==Epidemiology / Prevalence==		==Epidemiology / Prevalence==
	TS and its variants occur in approximately 1 in 2000 to 1 in 2500 live-born females.<ref>{{Cite journal\|last=Cui\|first=Xiaoxiao\|last2=Cui\|first2=Yazhou\|last3=Shi\|first3=Liang\|last4=Luan\|first4=Jing\|last5=Zhou\|first5=Xiaoyan\|last6=Han\|first6=Jinxiang\|date=2018-11\|title=A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment\|url=https://pubmed.ncbi.nlm.nih.gov/30560013\|journal=Intractable & Rare Diseases Research\|volume=7\|issue=4\|pages=223–228\|doi=10.5582/irdr.2017.01056\|issn=2186-3644\|pmc=6290843\|pmid=30560013}}</ref><ref>{{Cite journal\|last=Nielsen\|first=J.\|last2=Wohlert\|first2=M.\|date=1991-05\|title=Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark\|url=https://pubmed.ncbi.nlm.nih.gov/2037286\|journal=Human Genetics\|volume=87\|issue=1\|pages=81–83\|doi=10.1007/BF01213097\|issn=0340-6717\|pmid=2037286}}</ref> However, TS is among the most common chromosomal disorders, affecting 1–2% of conceptions, with approximately 99% of affected pregnancies resulting in pregnancy loss.<ref>{{Cite journal\|last=Urbach\|first=Achia\|last2=Benvenisty\|first2=Nissim\|date=2009\|title=Studying early lethality of 45,XO (Turner's syndrome) embryos using human embryonic stem cells\|url=https://pubmed.ncbi.nlm.nih.gov/19137066\|journal=PloS One\|volume=4\|issue=1\|pages=e4175\|doi=10.1371/journal.pone.0004175\|issn=1932-6203\|pmc=2613558\|pmid=19137066}}</ref> The true prevalence of TS is difficult to ascertain, as many individuals remain undiagnosed or are only diagnosed later in adulthood.<ref>{{Cite journal\|last=Gunther\|first=Daniel F.\|last2=Eugster\|first2=Erica\|last3=Zagar\|first3=Anthony J.\|last4=Bryant\|first4=Constance G.\|last5=Davenport\|first5=Marsha L.\|last6=Quigley\|first6=Charmian A.\|date=2004-09\|title=Ascertainment bias in Turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life\|url=https://pubmed.ncbi.nlm.nih.gov/15342833\|journal=Pediatrics\|volume=114\|issue=3\|pages=640–644\|doi=10.1542/peds.2003-1122-L\|issn=1098-4275\|pmid=15342833}}</ref>		TS and its variants occur in approximately 1 in 2000 to 1 in 2500 live-born females.<ref>{{Cite journal\|last=Cui\|first=Xiaoxiao\|last2=Cui\|first2=Yazhou\|last3=Shi\|first3=Liang\|last4=Luan\|first4=Jing\|last5=Zhou\|first5=Xiaoyan\|last6=Han\|first6=Jinxiang\|date=2018-11\|title=A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment\|url=https://pubmed.ncbi.nlm.nih.gov/30560013\|journal=Intractable & Rare Diseases Research\|volume=7\|issue=4\|pages=223–228\|doi=10.5582/irdr.2017.01056\|issn=2186-3644\|pmc=6290843\|pmid=30560013}}</ref><ref>{{Cite journal\|last=Nielsen\|first=J.\|last2=Wohlert\|first2=M.\|date=1991-05\|title=Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark\|url=https://pubmed.ncbi.nlm.nih.gov/2037286\|journal=Human Genetics\|volume=87\|issue=1\|pages=81–83\|doi=10.1007/BF01213097\|issn=0340-6717\|pmid=2037286}}</ref> However, TS is among the most common chromosomal disorders, affecting 1–2% of conceptions, with approximately 99% of affected pregnancies resulting in pregnancy loss.<ref>{{Cite journal\|last=Urbach\|first=Achia\|last2=Benvenisty\|first2=Nissim\|date=2009\|title=Studying early lethality of 45,XO (Turner's syndrome) embryos using human embryonic stem cells\|url=https://pubmed.ncbi.nlm.nih.gov/19137066\|journal=PloS One\|volume=4\|issue=1\|pages=e4175\|doi=10.1371/journal.pone.0004175\|issn=1932-6203\|pmc=2613558\|pmid=19137066}}</ref> The true prevalence of TS is difficult to ascertain, as many individuals remain undiagnosed or are only diagnosed later in adulthood.<ref>{{Cite journal\|last=Gunther\|first=Daniel F.\|last2=Eugster\|first2=Erica\|last3=Zagar\|first3=Anthony J.\|last4=Bryant\|first4=Constance G.\|last5=Davenport\|first5=Marsha L.\|last6=Quigley\|first6=Charmian A.\|date=2004-09\|title=Ascertainment bias in Turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life\|url=https://pubmed.ncbi.nlm.nih.gov/15342833\|journal=Pediatrics\|volume=114\|issue=3\|pages=640–644\|doi=10.1542/peds.2003-1122-L\|issn=1098-4275\|pmid=15342833}}</ref>

Kathleen.Bone at 21:46, 11 December 2024

2024-12-11T21:46:25Z

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