Etiological Classification and Clinical Assessment of Children and Adolescents with Disorders of Sex Development
Identifieur interne : 004517 ( Ncbi/Checkpoint ); précédent : 004516; suivant : 004518Etiological Classification and Clinical Assessment of Children and Adolescents with Disorders of Sex Development
Auteurs : Sema Erdo An [Turquie] ; Cengiz Kara [Turquie] ; Ahmet Uçaktürk [Turquie] ; Murat Ayd N [Turquie]Source :
- Journal of Clinical Research in Pediatric Endocrinology [ 1308-5727 ] ; 2011.
Abstract
Url:
DOI: 10.4274/jcrpe.v3i2.16
PubMed: 21750636
PubMed Central: 3119445
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Etiological Classification and Clinical Assessment of Children and
Adolescents with Disorders of Sex Development</title><author><name sortKey="Erdo An, Sema" sort="Erdo An, Sema" uniqKey="Erdo An S" first="Sema" last="Erdo An">Sema Erdo An</name><affiliation wicri:level="1"><nlm:aff id="A1"> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun</wicri:regionArea><wicri:noRegion>Samsun</wicri:noRegion></affiliation></author><author><name sortKey="Kara, Cengiz" sort="Kara, Cengiz" uniqKey="Kara C" first="Cengiz" last="Kara">Cengiz Kara</name><affiliation wicri:level="1"><nlm:aff id="A1"> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun</wicri:regionArea><wicri:noRegion>Samsun</wicri:noRegion></affiliation></author><author><name sortKey="Ucakturk, Ahmet" sort="Ucakturk, Ahmet" uniqKey="Ucakturk A" first="Ahmet" last="Uçaktürk">Ahmet Uçaktürk</name><affiliation wicri:level="1"><nlm:aff id="A1"> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun</wicri:regionArea><wicri:noRegion>Samsun</wicri:noRegion></affiliation></author><author><name sortKey="Ayd N, Murat" sort="Ayd N, Murat" uniqKey="Ayd N M" first="Murat" last="Ayd N">Murat Ayd N</name><affiliation wicri:level="1"><nlm:aff id="A1"> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun</wicri:regionArea><wicri:noRegion>Samsun</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21750636</idno><idno type="pmc">3119445</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3119445</idno><idno type="RBID">PMC:3119445</idno><idno type="doi">10.4274/jcrpe.v3i2.16</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">004048</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">004048</idno><idno type="wicri:Area/Pmc/Curation">004047</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">004047</idno><idno type="wicri:Area/Pmc/Checkpoint">002F79</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002F79</idno><idno type="wicri:Area/Ncbi/Merge">004517</idno><idno type="wicri:Area/Ncbi/Curation">004517</idno><idno type="wicri:Area/Ncbi/Checkpoint">004517</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Etiological Classification and Clinical Assessment of Children and
Adolescents with Disorders of Sex Development</title><author><name sortKey="Erdo An, Sema" sort="Erdo An, Sema" uniqKey="Erdo An S" first="Sema" last="Erdo An">Sema Erdo An</name><affiliation wicri:level="1"><nlm:aff id="A1"> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun</wicri:regionArea><wicri:noRegion>Samsun</wicri:noRegion></affiliation></author><author><name sortKey="Kara, Cengiz" sort="Kara, Cengiz" uniqKey="Kara C" first="Cengiz" last="Kara">Cengiz Kara</name><affiliation wicri:level="1"><nlm:aff id="A1"> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun</wicri:regionArea><wicri:noRegion>Samsun</wicri:noRegion></affiliation></author><author><name sortKey="Ucakturk, Ahmet" sort="Ucakturk, Ahmet" uniqKey="Ucakturk A" first="Ahmet" last="Uçaktürk">Ahmet Uçaktürk</name><affiliation wicri:level="1"><nlm:aff id="A1"> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun</wicri:regionArea><wicri:noRegion>Samsun</wicri:noRegion></affiliation></author><author><name sortKey="Ayd N, Murat" sort="Ayd N, Murat" uniqKey="Ayd N M" first="Murat" last="Ayd N">Murat Ayd N</name><affiliation wicri:level="1"><nlm:aff id="A1"> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun, Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea> Department of Pediatric Endocrinology, Ondokuz Mayis University, Samsun</wicri:regionArea><wicri:noRegion>Samsun</wicri:noRegion></affiliation></author></analytic><series><title level="j">Journal of Clinical Research in Pediatric Endocrinology</title><idno type="ISSN">1308-5727</idno><idno type="eISSN">1308-5735</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p><bold>Objective:</bold> In 2006, the Lawson Wilkins Pediatric Endocrine Society
(LWPES) and the European Society for Paediatric Endocrinology (ESPE) published a
consensus statement on management of intersex disorders. The aim of our study
was to determine the etiological distribution of disorders of sex development
(DSD) according to the new DSD classification system and to evaluate the
clinical features of DSDs in our patient cohort. </p><p><bold>Methods:</bold> We retrospectively reviewed the records of patients
followed up during the past three years. The subjects were divided into three
etiologic groups according to their karyotypes. The definite diagnosesin each
subgroup were established by clinical and laboratory investigations including
abdominopelvic imaging as well as basal and stimulated hormone measurements.
Molecular genetic testing, except for CYP21A2 gene, could not be performed. </p><p><bold>Results:</bold> Out of a total of 95 patients, 26 had sex chromosome DSD,
45 had 46,XY DSD and 24 had 46,XX DSD. The most common causes of DSDs were
Turner’s syndrome (TS), congenital adrenal hyperplasia (CAH) and androgen
insensitivity syndrome (AIS). There was a wide variation in age of presentation
ranging from 1 day to 17.5 years with a mean of 6.5±6.5 years. The most
frequent complaints at presentation were ambiguous genitalia, isolated perineal
hypospadias and short stature. </p><p><bold>Conclusion:</bold> The results of our study demonstrate that the new DSD
classification system leads to a major change in the distribution of etiological
diagnoses of DSDs, which is exemplified by the significant frequencies of TS and
vanishing testes syndrome. This alteration expands the clinical spectrum and
increases the mean age at diagnosis. However, the most common causes of
ambiguous genitalia, such as CAH and AIS, remain unchanged. Further studies
using molecular genetic analyses are needed to give a more precise distribution
of etiologies of DSDs, especially in 46,XY patients.</p><p><bold>Conflict of interest:</bold>None declared.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Hughes, Ia" uniqKey="Hughes I">IA Hughes</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lee, Pa" uniqKey="Lee P">PA Lee</name></author><author><name sortKey="Houk, Cp" uniqKey="Houk C">CP Houk</name></author><author><name sortKey="Ahmed, Sf" uniqKey="Ahmed S">SF Ahmed</name></author><author><name sortKey="Hughes, Ia" uniqKey="Hughes I">IA Hughes</name></author><author><name sortKey="International Consensus Conference On Intersex Organized By The X0a X09 X09 X09 X09 X09 X09 X09 X09 Lawson Wilkins Pediatric Endocrine Society And The European Society X0a X09 X09 X09 X09 X09 X09 X09 X09 For Paediatric, Endocrinology" uniqKey="International Consensus Conference On Intersex Organized By The X0a X09 X09 X09 X09 X09 X09 X09 X09 Lawson Wilkins Pediatric Endocrine Society And The European Society X0a X09 X09 X09 X09 X09 X09 X09 X09 For Paediatric E">Endocrinology. International Consensus Conference on Intersex organized by the
Lawson Wilkins Pediatric Endocrine Society and the European Society
for Paediatric</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lee, Pa" uniqKey="Lee P">PA Lee</name></author><author><name sortKey="Houk, Cp" uniqKey="Houk C">CP Houk</name></author><author><name sortKey="Ahmed, Sf" uniqKey="Ahmed S">SF Ahmed</name></author><author><name sortKey="Hughes, Ia" uniqKey="Hughes I">IA Hughes</name></author><author><name sortKey="International Consensus Conference On Intersex Organized By The X0a X09 X09 X09 X09 X09 X09 X09 X09 Lawson Wilkins Pediatric Endocrine Society And The European Society X0a X09 X09 X09 X09 X09 X09 X09 X09 For Paediatric, Endocrinology" uniqKey="International Consensus Conference On Intersex Organized By The X0a X09 X09 X09 X09 X09 X09 X09 X09 Lawson Wilkins Pediatric Endocrine Society And The European Society X0a X09 X09 X09 X09 X09 X09 X09 X09 For Paediatric E">Endocrinology International Consensus Conference on Intersex organized by the
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ESPE/ LWPES CAH Working</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Thyen, U" uniqKey="Thyen U">U Thyen</name></author><author><name sortKey="Lanz, K" uniqKey="Lanz K">K Lanz</name></author><author><name sortKey="Holterhus, Pm" uniqKey="Holterhus P">PM Holterhus</name></author><author><name sortKey="Hiort, O" uniqKey="Hiort O">O Hiort</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Turquie</li></country></list><tree><country name="Turquie"><noRegion><name sortKey="Erdo An, Sema" sort="Erdo An, Sema" uniqKey="Erdo An S" first="Sema" last="Erdo An">Sema Erdo An</name></noRegion><name sortKey="Ayd N, Murat" sort="Ayd N, Murat" uniqKey="Ayd N M" first="Murat" last="Ayd N">Murat Ayd N</name><name sortKey="Kara, Cengiz" sort="Kara, Cengiz" uniqKey="Kara C" first="Cengiz" last="Kara">Cengiz Kara</name><name sortKey="Ucakturk, Ahmet" sort="Ucakturk, Ahmet" uniqKey="Ucakturk A" first="Ahmet" last="Uçaktürk">Ahmet Uçaktürk</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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