Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report
CONTEXT: 45,X/46,Xidic(Y) mosaicism demands careful and thorough study because of both its variable clinical features and its potential complications. CASE REPORT: The present case relates to a three-year-old girl with the mosaic karyotype 46,X,idic(Y)(q11.2)[23]/45,X[6]. She had no signs of viriliz...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Associação Paulista de Medicina
|
| Series: | São Paulo Medical Journal |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802008000500012&lng=en&tlng=en |
| _version_ | 1819097007133818880 |
|---|---|
| author | Henrique Soares Ana Maia Miguel Campos Sofia Dória José Manuel Lopes Manuel Fontoura |
| author_facet | Henrique Soares Ana Maia Miguel Campos Sofia Dória José Manuel Lopes Manuel Fontoura |
| author_sort | Henrique Soares |
| collection | DOAJ |
| description | CONTEXT: 45,X/46,Xidic(Y) mosaicism demands careful and thorough study because of both its variable clinical features and its potential complications. CASE REPORT: The present case relates to a three-year-old girl with the mosaic karyotype 46,X,idic(Y)(q11.2)[23]/45,X[6]. She had no signs of virilization or Turner's syndrome phenotype, but she was referred to our hospital because she presented reduced growth rate, abnormal facies and a melanotic nevus. After examination, she underwent prophylactic gonadectomy because of the risk of gonadoblastoma. Cytogenetic analysis on the streak gonads and blood showed significant differences in the 45,X cell line between these two tissues. The presence of the sex-determining region Y (SRY) gene did not determine male differentiation, which meant in the present case that the predominance of the X cell line in the gonadal tissue was probably due to the determining factor for female sexual differentiation. |
| first_indexed | 2024-12-22T00:08:14Z |
| format | Article |
| id | doaj.art-e7f408d39a3349288f65236a6b8d447e |
| institution | Directory Open Access Journal |
| issn | 1806-9460 |
| language | English |
| last_indexed | 2024-12-22T00:08:14Z |
| publisher | Associação Paulista de Medicina |
| record_format | Article |
| series | São Paulo Medical Journal |
| spelling | doaj.art-e7f408d39a3349288f65236a6b8d447e2022-12-21T18:45:30ZengAssociação Paulista de MedicinaSão Paulo Medical Journal1806-9460126529729910.1590/S1516-31802008000500012S1516-31802008000500012Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case reportHenrique Soares0Ana Maia1Miguel Campos2Sofia Dória3José Manuel Lopes4Manuel Fontoura5Universidade do PortoUniversidade do PortoUniversidade do PortoUniversidade do PortoUniversidade do PortoUniversidade do PortoCONTEXT: 45,X/46,Xidic(Y) mosaicism demands careful and thorough study because of both its variable clinical features and its potential complications. CASE REPORT: The present case relates to a three-year-old girl with the mosaic karyotype 46,X,idic(Y)(q11.2)[23]/45,X[6]. She had no signs of virilization or Turner's syndrome phenotype, but she was referred to our hospital because she presented reduced growth rate, abnormal facies and a melanotic nevus. After examination, she underwent prophylactic gonadectomy because of the risk of gonadoblastoma. Cytogenetic analysis on the streak gonads and blood showed significant differences in the 45,X cell line between these two tissues. The presence of the sex-determining region Y (SRY) gene did not determine male differentiation, which meant in the present case that the predominance of the X cell line in the gonadal tissue was probably due to the determining factor for female sexual differentiation.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802008000500012&lng=en&tlng=enMosaicismIn situ hybridizationfluorescenceGonadoblastomaTurner syndromeNevus |
| spellingShingle | Henrique Soares Ana Maia Miguel Campos Sofia Dória José Manuel Lopes Manuel Fontoura Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report São Paulo Medical Journal Mosaicism In situ hybridization fluorescence Gonadoblastoma Turner syndrome Nevus |
| title | Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report |
| title_full | Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report |
| title_fullStr | Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report |
| title_full_unstemmed | Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report |
| title_short | Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report |
| title_sort | clinicopathological features of 45 x 46 xidic y mosaicism and therapeutic implications case report |
| topic | Mosaicism In situ hybridization fluorescence Gonadoblastoma Turner syndrome Nevus |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802008000500012&lng=en&tlng=en |
| work_keys_str_mv | AT henriquesoares clinicopathologicalfeaturesof45x46xidicymosaicismandtherapeuticimplicationscasereport AT anamaia clinicopathologicalfeaturesof45x46xidicymosaicismandtherapeuticimplicationscasereport AT miguelcampos clinicopathologicalfeaturesof45x46xidicymosaicismandtherapeuticimplicationscasereport AT sofiadoria clinicopathologicalfeaturesof45x46xidicymosaicismandtherapeuticimplicationscasereport AT josemanuellopes clinicopathologicalfeaturesof45x46xidicymosaicismandtherapeuticimplicationscasereport AT manuelfontoura clinicopathologicalfeaturesof45x46xidicymosaicismandtherapeuticimplicationscasereport |