45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue
The 45,X/46,XY karyotype has been associated with mixed gonadal dysgenesis (MGD) and ovotesticular disorder of sex development (DSD). Our aim was to revise the diagnosis of ovotesticular DSD in two patients in the context of a retrospective study of 45,X/46,XY subjects with genital ambiguity. Patien...
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| Published in | Journal of Pediatric Endocrinology & Metabolism Vol. 30; no. 8; pp. 899 - 904 |
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| Main Authors | , , , |
| Format | Journal Article |
| Language | English |
| Published |
Germany
De Gruyter
28.08.2017
Walter de Gruyter GmbH |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0334-018X 2191-0251 2191-0251 |
| DOI | 10.1515/jpem-2017-0039 |
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| Abstract | The 45,X/46,XY karyotype has been associated with mixed gonadal dysgenesis (MGD) and ovotesticular disorder of sex development (DSD). Our aim was to revise the diagnosis of ovotesticular DSD in two patients in the context of a retrospective study of 45,X/46,XY subjects with genital ambiguity.
Patient 1 had a left streak gonad; the right one was considered an ovotestis. Patient 2 had a right testis; the left gonad was considered an ovary. Revision of the histological sections was performed. Both the "ovarian" part of the right gonad of patient 1 and the left "ovary" of patient 2 contained ovarian-type stroma with clusters of sex-cordlike structures and rare germ cells, compatible with undifferentiated gonadal tissue (UGT). Misdiagnosis of ovarian tissue in patients with 45,X/46,XY mosaicism or its variants could also be found in six published case reports.
A distinction between 45,X/46,XY ovotesticular DSD and MGD should be made on past and future cases keeping in mind that UGT may be mistaken as ovarian tissue. |
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| AbstractList | The 45,X/46,XY karyotype has been associated with mixed gonadal dysgenesis (MGD) and ovotesticular disorder of sex development (DSD). Our aim was to revise the diagnosis of ovotesticular DSD in two patients in the context of a retrospective study of 45,X/46,XY subjects with genital ambiguity. Case presentation: Patient 1 had a left streak gonad; the right one was considered an ovotestis. Patient 2 had a right testis; the left gonad was considered an ovary. Revision of the histological sections was performed. Both the “ovarian” part of the right gonad of patient 1 and the left “ovary” of patient 2 contained ovarian-type stroma with clusters of sex-cordlike structures and rare germ cells, compatible with undifferentiated gonadal tissue (UGT). Misdiagnosis of ovarian tissue in patients with 45,X/46,XY mosaicism or its variants could also be found in six published case reports. Conclusions: A distinction between 45,X/46,XY ovotesticular DSD and MGD should be made on past and future cases keeping in mind that UGT may be mistaken as ovarian tissue. The 45,X/46,XY karyotype has been associated with mixed gonadal dysgenesis (MGD) and ovotesticular disorder of sex development (DSD). Our aim was to revise the diagnosis of ovotesticular DSD in two patients in the context of a retrospective study of 45,X/46,XY subjects with genital ambiguity. Patient 1 had a left streak gonad; the right one was considered an ovotestis. Patient 2 had a right testis; the left gonad was considered an ovary. Revision of the histological sections was performed. Both the "ovarian" part of the right gonad of patient 1 and the left "ovary" of patient 2 contained ovarian-type stroma with clusters of sex-cordlike structures and rare germ cells, compatible with undifferentiated gonadal tissue (UGT). Misdiagnosis of ovarian tissue in patients with 45,X/46,XY mosaicism or its variants could also be found in six published case reports. A distinction between 45,X/46,XY ovotesticular DSD and MGD should be made on past and future cases keeping in mind that UGT may be mistaken as ovarian tissue. The 45,X/46,XY karyotype has been associated with mixed gonadal dysgenesis (MGD) and ovotesticular disorder of sex development (DSD). Our aim was to revise the diagnosis of ovotesticular DSD in two patients in the context of a retrospective study of 45,X/46,XY subjects with genital ambiguity.BACKGROUNDThe 45,X/46,XY karyotype has been associated with mixed gonadal dysgenesis (MGD) and ovotesticular disorder of sex development (DSD). Our aim was to revise the diagnosis of ovotesticular DSD in two patients in the context of a retrospective study of 45,X/46,XY subjects with genital ambiguity.Patient 1 had a left streak gonad; the right one was considered an ovotestis. Patient 2 had a right testis; the left gonad was considered an ovary. Revision of the histological sections was performed. Both the "ovarian" part of the right gonad of patient 1 and the left "ovary" of patient 2 contained ovarian-type stroma with clusters of sex-cordlike structures and rare germ cells, compatible with undifferentiated gonadal tissue (UGT). Misdiagnosis of ovarian tissue in patients with 45,X/46,XY mosaicism or its variants could also be found in six published case reports.CASE PRESENTATIONPatient 1 had a left streak gonad; the right one was considered an ovotestis. Patient 2 had a right testis; the left gonad was considered an ovary. Revision of the histological sections was performed. Both the "ovarian" part of the right gonad of patient 1 and the left "ovary" of patient 2 contained ovarian-type stroma with clusters of sex-cordlike structures and rare germ cells, compatible with undifferentiated gonadal tissue (UGT). Misdiagnosis of ovarian tissue in patients with 45,X/46,XY mosaicism or its variants could also be found in six published case reports.A distinction between 45,X/46,XY ovotesticular DSD and MGD should be made on past and future cases keeping in mind that UGT may be mistaken as ovarian tissue.CONCLUSIONSA distinction between 45,X/46,XY ovotesticular DSD and MGD should be made on past and future cases keeping in mind that UGT may be mistaken as ovarian tissue. |
| Author | Maciel-Guerra, Andréa Trevas Andrade, Juliana Gabriel Ribeiro de Andrade, Liliana Aparecida Lucci De Angelo Guerra-Junior, Gil |
| Author_xml | – sequence: 1 givenname: Juliana Gabriel Ribeiro de surname: Andrade fullname: Andrade, Juliana Gabriel Ribeiro de organization: Department of Pediatrics, Faculty of Medical Sciences, State University of Campinas (Unicamp), São Paulo, Brazil – sequence: 2 givenname: Liliana Aparecida Lucci De Angelo surname: Andrade fullname: Andrade, Liliana Aparecida Lucci De Angelo organization: Department of Anatomic Pathology, Faculty of Medical Sciences, State University of Campinas (Unicamp), São Paulo, Brazil – sequence: 3 givenname: Gil surname: Guerra-Junior fullname: Guerra-Junior, Gil organization: Department of Pediatrics, Faculty of Medical Sciences, State University of Campinas (Unicamp), São Paulo, Brazil – sequence: 4 givenname: Andréa Trevas surname: Maciel-Guerra fullname: Maciel-Guerra, Andréa Trevas email: atmg@uol.com.br organization: Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas (Unicamp), Rua Tessália Vieira de Camargo, 126, 13083-887 Campinas, SP, Brazil, Phone: +55 19 3521-8908, Fax: +55 19 3521-8909 |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/28742519$$D View this record in MEDLINE/PubMed |
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| CitedBy_id | crossref_primary_10_1159_000513415 crossref_primary_10_4103_GMIT_GMIT_107_19 crossref_primary_10_3389_fendo_2020_00619 crossref_primary_10_3389_fendo_2021_709954 crossref_primary_10_1016_j_jpurol_2019_12_005 crossref_primary_10_18621_eurj_1285835 crossref_primary_10_1016_j_jpurol_2024_03_002 crossref_primary_10_1210_jc_2018_02752 crossref_primary_10_14295_rp_v55i2_317 |
| Cites_doi | 10.1097/AOG.0b013e3181866456 10.1007/BF00284158 10.1097/01.MP.0000027623.23885.0D 10.1097/00006250-198409001-00017 10.1007/s12519-009-0020-7 10.1210/jc.2005-2554 10.1016/j.eucr.2015.12.003 10.1016/S0022-5347(01)62565-5 10.1016/j.urology.2011.02.036 10.4158/EP09060.CRR 10.1007/s003830000415 10.1016/j.juro.2013.10.037 10.1097/PGP.0b013e3181b52e75 10.1210/jc.2012-1388 10.5858/2001-125-0652-MAHOGF 10.1111/and.12048 10.1002/pd.1970090106 10.1016/j.juro.2006.10.003 10.2350/11-01-0960-OA.1 10.1210/jc.2005-0139 10.1007/BF01213097 |
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| Snippet | The 45,X/46,XY karyotype has been associated with mixed gonadal dysgenesis (MGD) and ovotesticular disorder of sex development (DSD). Our aim was to revise the... |
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| SubjectTerms | Differences of sex development disorders of sex development Disorders of Sex Development - diagnosis Disorders of Sex Development - pathology Female gonadal dysgenesis Gonadal Dysgenesis, 46,XY - diagnosis Gonadal Dysgenesis, 46,XY - pathology Gonads - pathology Humans Infant Infant, Newborn Male mosaicism ovotesticular disorder of sex development Ovotesticular Disorders of Sex Development - diagnosis Ovotesticular Disorders of Sex Development - pathology |
| Title | 45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue |
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