Mullerian Agenesis Associated with Turner’s Syndrome
Identifieur interne : 002055 ( Pmc/Corpus ); précédent : 002054; suivant : 002056Mullerian Agenesis Associated with Turner’s Syndrome
Auteurs : Padmanabhan Elamparidhi ; Rudrappa Ramesh Kumar ; Selvakkalanjiyam Sivaranjinie ; Rajakumar SibhithranSource :
- Journal of Clinical and Diagnostic Research : JCDR [ 2249-782X ] ; 2017.
Abstract
Turner’s syndrome is a chromosomal disorder with 45 X0 due to absence of a set of gene from the short arm of X chromosome. The incidence of Turner’s syndrome is 1 in 2500 live births. Primary amenorrhea is well known in Turner’s syndrome, the reason being streak ovaries; but mullerian agenesis as a cause of primary amenorrhea in Turner’s syndrome is a very rare entity. The incidence of Turner’s syndrome associated with mullerian agenesis is extremely rare as there is only a hand full of cases reported in literature. We report a rare case of adolescent female who presented with primary amenorrhea and found to have Turner’s syndrome with mullerian agenesis.
Url:
DOI: 10.7860/JCDR/2017/23305.9157
PubMed: 28384960
PubMed Central: 5376844
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PMC:5376844Le document en format XML
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<author><name sortKey="Kumar, Rudrappa Ramesh" sort="Kumar, Rudrappa Ramesh" uniqKey="Kumar R" first="Rudrappa Ramesh" last="Kumar">Rudrappa Ramesh Kumar</name>
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<author><name sortKey="Sivaranjinie, Selvakkalanjiyam" sort="Sivaranjinie, Selvakkalanjiyam" uniqKey="Sivaranjinie S" first="Selvakkalanjiyam" last="Sivaranjinie">Selvakkalanjiyam Sivaranjinie</name>
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<author><name sortKey="Sibhithran, Rajakumar" sort="Sibhithran, Rajakumar" uniqKey="Sibhithran R" first="Rajakumar" last="Sibhithran">Rajakumar Sibhithran</name>
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<series><title level="j">Journal of Clinical and Diagnostic Research : JCDR</title>
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<front><div type="abstract" xml:lang="en"><p>Turner’s syndrome is a chromosomal disorder with 45 X0 due to absence of a set of gene from the short arm of X chromosome. The incidence of Turner’s syndrome is 1 in 2500 live births. Primary amenorrhea is well known in Turner’s syndrome, the reason being streak ovaries; but mullerian agenesis as a cause of primary amenorrhea in Turner’s syndrome is a very rare entity. The incidence of Turner’s syndrome associated with mullerian agenesis is extremely rare as there is only a hand full of cases reported in literature. We report a rare case of adolescent female who presented with primary amenorrhea and found to have Turner’s syndrome with mullerian agenesis.</p>
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<pmc article-type="case-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Clin Diagn Res</journal-id>
<journal-id journal-id-type="iso-abbrev">J Clin Diagn Res</journal-id>
<journal-id journal-id-type="hwp">Journal of Clinical and Diagnostic Research</journal-id>
<journal-id journal-id-type="publisher-id">JCDR</journal-id>
<journal-title-group><journal-title>Journal of Clinical and Diagnostic Research : JCDR</journal-title>
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<issn pub-type="ppub">2249-782X</issn>
<issn pub-type="epub">0973-709X</issn>
<publisher><publisher-name>JCDR Research and Publications (P) Limited</publisher-name>
<publisher-loc>Delhi, India</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">28384960</article-id>
<article-id pub-id-type="pmc">5376844</article-id>
<article-id pub-id-type="doi">10.7860/JCDR/2017/23305.9157</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Radiology Section</subject>
<subj-group subj-group-type="heading"><subject>Case Report</subject>
</subj-group>
</subj-group>
</article-categories>
<title-group><article-title>Mullerian Agenesis Associated with Turner’s Syndrome</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Elamparidhi</surname>
<given-names>Padmanabhan</given-names>
</name>
<xref ref-type="aff" rid="aff1">1</xref>
<xref ref-type="corresp" rid="cor1"></xref>
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<contrib contrib-type="author"><name><surname>Kumar</surname>
<given-names>Rudrappa Ramesh</given-names>
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<xref ref-type="aff" rid="aff2">2</xref>
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<contrib contrib-type="author"><name><surname>Sivaranjinie</surname>
<given-names>Selvakkalanjiyam</given-names>
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<contrib contrib-type="author"><name><surname>Sibhithran</surname>
<given-names>Rajakumar</given-names>
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<xref ref-type="aff" rid="aff4">4</xref>
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<aff id="aff1"><label>1</label>
Senior Resident, Department of Radio-Diagnosis,<institution>Sri Manakula Vinayagar Medical College and Hospital</institution>
,<addr-line>Madagadipet, Puducherry, India</addr-line>
.</aff>
<aff id="aff2"><label>2</label>
Professor and Head of the Department, Department of Radio-Diagnosis,<institution>Sri Manakula Vinayagar Medical College and Hospital</institution>
,<addr-line>Madagadipet, Puducherry, India</addr-line>
.</aff>
<aff id="aff3"><label>3</label>
Junior Resident, Department of Radio-Diagnosis,<institution>Sri Manakula Vinayagar Medical College and Hospital</institution>
,<addr-line>Madagadipet, Puducherry, India</addr-line>
.</aff>
<aff id="aff4"><label>4</label>
Junior Resident, Department of Radio-Diagnosis,<institution>Sri Manakula Vinayagar Medical College and Hospital</institution>
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<author-notes><corresp id="cor1">NAME, ADDRESS, E-MAIL ID OF THE CORRESPONDING AUTHOR: Dr. Padmanabhan Elamparidhi, Department of Radio-Diagnosis, Sri Manakula Vinayagar Medical college and Hospital, Madagadipet, Puducherry- 605107, India. E-mail: <email>pepsantosh@gmail.com</email>
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<pub-date pub-type="ppub"><month>2</month>
<year>2017</year>
</pub-date>
<pub-date pub-type="epub"><day>01</day>
<month>2</month>
<year>2017</year>
</pub-date>
<volume>11</volume>
<issue>2</issue>
<fpage>TD01</fpage>
<lpage>TD02</lpage>
<history><date date-type="received"><day>03</day>
<month>8</month>
<year>2016</year>
</date>
<date date-type="rev-request"><day>28</day>
<month>10</month>
<year>2016</year>
</date>
<date date-type="accepted"><day>17</day>
<month>11</month>
<year>2016</year>
</date>
</history>
<permissions><copyright-statement>© 2017 Journal of Clinical and Diagnostic Research</copyright-statement>
<copyright-year>2017</copyright-year>
</permissions>
<abstract><p>Turner’s syndrome is a chromosomal disorder with 45 X0 due to absence of a set of gene from the short arm of X chromosome. The incidence of Turner’s syndrome is 1 in 2500 live births. Primary amenorrhea is well known in Turner’s syndrome, the reason being streak ovaries; but mullerian agenesis as a cause of primary amenorrhea in Turner’s syndrome is a very rare entity. The incidence of Turner’s syndrome associated with mullerian agenesis is extremely rare as there is only a hand full of cases reported in literature. We report a rare case of adolescent female who presented with primary amenorrhea and found to have Turner’s syndrome with mullerian agenesis.</p>
</abstract>
<kwd-group><kwd>Gonadal dysgenesis</kwd>
<kwd>Missing X chromosome</kwd>
<kwd>Mullerian development</kwd>
<kwd>Mullerian anomaly</kwd>
<kwd>Sex chromosome</kwd>
</kwd-group>
</article-meta>
</front>
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