A Rare Case with Sex Developmental Disorder
Background: Disorder of sex development (DSD) is defined as a congenital mismatch between sex phenotype, gonadal and sex chromosome, which mainly present with atypical genital appearance or ambiguous genitalia. It consider as a medical emergency and the cases should be evaluate immediately for det...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | fas |
| Published: |
Isfahan University of Medical Sciences
2010-04-01
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| Series: | مجله دانشکده پزشکی اصفهان |
| Online Access: | http://jims.mui.ac.ir/index.php/jims/article/view/329 |
| _version_ | 1827849935974825984 |
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| author | Elham Hashemi Dehkordi Mehdi Salek Mahin Hashemipour Mohammad Hassan Moaddab |
| author_facet | Elham Hashemi Dehkordi Mehdi Salek Mahin Hashemipour Mohammad Hassan Moaddab |
| author_sort | Elham Hashemi Dehkordi |
| collection | DOAJ |
| description | Background:
Disorder of sex development (DSD) is defined as a congenital mismatch between sex phenotype, gonadal and sex chromosome, which mainly present with atypical genital appearance or ambiguous genitalia. It consider as a medical emergency and the cases should be evaluate immediately for detection of life threatening conditions and determination of gender.
Case Report:
We report a 50 days old infant with 49,XXXXY syndrome presenting with ambiguous genitalia.
Conclusion:
49,XXXXY syndrome is a rare sex chromosome aneuploidy disorder, which represented with its “classical triad” consists of mental retardation, radioulnar synostosis and hypogonadism.
Key words: Disorder of sex development, Ambiguous genitalia, Facial dysmorfism, 49,xxxxy syndrome. |
| first_indexed | 2024-03-12T10:13:04Z |
| format | Article |
| id | doaj.art-bba35cc85192471cb5f204ba6e0d53ae |
| institution | Directory Open Access Journal |
| issn | 1027-7595 1735-854X |
| language | fas |
| last_indexed | 2024-03-12T10:13:04Z |
| publishDate | 2010-04-01 |
| publisher | Isfahan University of Medical Sciences |
| record_format | Article |
| series | مجله دانشکده پزشکی اصفهان |
| spelling | doaj.art-bba35cc85192471cb5f204ba6e0d53ae2023-09-02T10:47:45ZfasIsfahan University of Medical Sciencesمجله دانشکده پزشکی اصفهان1027-75951735-854X2010-04-01281046268321A Rare Case with Sex Developmental DisorderElham Hashemi Dehkordi0Mehdi Salek1Mahin Hashemipour2Mohammad Hassan Moaddab3Professor of Pediatric Endocrinology, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, IsfahanAssociate Professor of Pediatrics, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, IsfahanStudent of Pediatric Endocrinology, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, IsfahanAssistant Professor of Pediatric Endocrinology, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, IsfahanBackground: Disorder of sex development (DSD) is defined as a congenital mismatch between sex phenotype, gonadal and sex chromosome, which mainly present with atypical genital appearance or ambiguous genitalia. It consider as a medical emergency and the cases should be evaluate immediately for detection of life threatening conditions and determination of gender. Case Report: We report a 50 days old infant with 49,XXXXY syndrome presenting with ambiguous genitalia. Conclusion: 49,XXXXY syndrome is a rare sex chromosome aneuploidy disorder, which represented with its “classical triad” consists of mental retardation, radioulnar synostosis and hypogonadism. Key words: Disorder of sex development, Ambiguous genitalia, Facial dysmorfism, 49,xxxxy syndrome.http://jims.mui.ac.ir/index.php/jims/article/view/329 |
| spellingShingle | Elham Hashemi Dehkordi Mehdi Salek Mahin Hashemipour Mohammad Hassan Moaddab A Rare Case with Sex Developmental Disorder مجله دانشکده پزشکی اصفهان |
| title | A Rare Case with Sex Developmental Disorder |
| title_full | A Rare Case with Sex Developmental Disorder |
| title_fullStr | A Rare Case with Sex Developmental Disorder |
| title_full_unstemmed | A Rare Case with Sex Developmental Disorder |
| title_short | A Rare Case with Sex Developmental Disorder |
| title_sort | rare case with sex developmental disorder |
| url | http://jims.mui.ac.ir/index.php/jims/article/view/329 |
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