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Case Report
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| An unusual case of ambiguous genitalia |
| Marianna Nicoletta-Gentile2, Leslie Lam1, Mariam Gangat2, Yelena Kogelman2 |
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1Associate Professor Pediatric Endocrinology, Children's Hospital at Montefiore, Bronx, NY, USA.
2Pediatric Endocrine Fellow, Pediatric Endocrinology, Children's Hospital at Montefiore, Bronx, NY, USA. |
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doi:10.5348/ijcri-2012-03-102-CR-7
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Address correspondence to: Marianna Nicoletta-Gentile DO-Pediatric Endocrine Fellow 3415 Bainbridge Avenue Bronx NY 10467 USA Phone: 718-920-4664 Fax: 718-405-5609 Email: marnico10@gmail.com |
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| How to cite this article: |
| Nicoletta-Gentile M, Lam L, Gangat M, Kogelman Y. An unusual case of ambiguous genitalia. International Journal of Case Reports and Images 2012;3(3):24-26. |
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Abstract
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Introduction:
Mixed gonadal dysgenesis is most commonly associated with a mosaic 45X/46XY karyotype. The clinical phenotype may range from almost complete female or male external genitalia to ambiguous genitalia. The internal genitalia may be composed of dysgenetic testis on one side and a streak gonad on the contralateral side, however there can be varying configurations as well. The uterus and fallopian tubes are generally ipsilateral to the streak gonad and these retained Mullerian remnants are common. The presence of 45X may present with Turner like features including cardiac, renal anomalies and short stature.
Case Report: We describe a case of ambiguous genitalia secondary to mixed gonadal dysgenesis where the sex assignment was made before the final diagnosis was reached. Conclusion: The diagnosis of mixed gonadal dysgenesis can be difficult for families. A multidisciplinary approach must be established for the patient and family while incorporating the psychosocial aspects also. | |
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Key Words:
Gonadal dysgenesis, Mixed gonadal dysgenesis
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Author Contributions:
Marianna Nicoletta-Gentile - Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Leslie Lam - Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Mariam Gangat - Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Yelena Kogelman - Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published |
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Guarantor of submission:
The corresponding author is the guarantor of submission. |
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Source of support:
None |
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Conflict of interest:
Authors declare no conflict of interest. |
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Copyright:
© Marianna Nicoletta-Gentile et al. 2012; This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any means provided the original authors and original publisher are properly credited. (Please see http://www.ijcasereportsandimages.com/copyright-policy.php for more information.) |
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