Checklist for the Structural Description of the Deep Phenotype in Disorders of Sexual Development
This paper addresses the question, how the variations of the deep phenotype in disorders of sex development (DSD) are appropriately described. This is a relevant question, because extensive phenotypic variability occurs in gonads and sex ducts. With the advance of video endoscopy and laparoscopy, fr...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2012/816365 |
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| author | L. Wünsch |
| author_facet | L. Wünsch |
| author_sort | L. Wünsch |
| collection | DOAJ |
| description | This paper addresses the question, how the variations of the deep phenotype in disorders of sex development (DSD) are appropriately described. This is a relevant question, because extensive phenotypic variability occurs in gonads and sex ducts. With the advance of video endoscopy and laparoscopy, fresh insight in gonadal and sex duct anatomy is emerging. So far, an attempt to standardize the diagnostic approach and, in particular, how to document these findings has not been published. We propose a standardized examination schedule for these procedures. It consists of 5 pictures of relevant anatomic features. For laparoscopy, it includes two pictures each of gonads and sex ducts on either side and an image of the retrovesical space. For endoscopy, the examination of the ureteric orifices, the posterior urethra, and the urogenital sinus derivates is recommended. Adherence of a standardized schedule and image storing enhances patient autonomy, because they can carry their examination for a second opinion without need for repeated examination. Physicians and scientists create a structured image library that facilitates the comparison of clinical outcomes, research on genotype phenotype associations and may lead to better classifications. |
| format | Article |
| id | doaj-art-f50a831b932f469ca3f170aac552a4bf |
| institution | Kabale University |
| issn | 1687-8337 1687-8345 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Endocrinology |
| spelling | doaj-art-f50a831b932f469ca3f170aac552a4bf2025-02-03T01:23:21ZengWileyInternational Journal of Endocrinology1687-83371687-83452012-01-01201210.1155/2012/816365816365Checklist for the Structural Description of the Deep Phenotype in Disorders of Sexual DevelopmentL. Wünsch0Department of Paediatric Surgery, University of Lübeck, Ratzeburger Allee 160, 23538, GermanyThis paper addresses the question, how the variations of the deep phenotype in disorders of sex development (DSD) are appropriately described. This is a relevant question, because extensive phenotypic variability occurs in gonads and sex ducts. With the advance of video endoscopy and laparoscopy, fresh insight in gonadal and sex duct anatomy is emerging. So far, an attempt to standardize the diagnostic approach and, in particular, how to document these findings has not been published. We propose a standardized examination schedule for these procedures. It consists of 5 pictures of relevant anatomic features. For laparoscopy, it includes two pictures each of gonads and sex ducts on either side and an image of the retrovesical space. For endoscopy, the examination of the ureteric orifices, the posterior urethra, and the urogenital sinus derivates is recommended. Adherence of a standardized schedule and image storing enhances patient autonomy, because they can carry their examination for a second opinion without need for repeated examination. Physicians and scientists create a structured image library that facilitates the comparison of clinical outcomes, research on genotype phenotype associations and may lead to better classifications.http://dx.doi.org/10.1155/2012/816365 |
| spellingShingle | L. Wünsch Checklist for the Structural Description of the Deep Phenotype in Disorders of Sexual Development International Journal of Endocrinology |
| title | Checklist for the Structural Description of the Deep Phenotype in Disorders of Sexual Development |
| title_full | Checklist for the Structural Description of the Deep Phenotype in Disorders of Sexual Development |
| title_fullStr | Checklist for the Structural Description of the Deep Phenotype in Disorders of Sexual Development |
| title_full_unstemmed | Checklist for the Structural Description of the Deep Phenotype in Disorders of Sexual Development |
| title_short | Checklist for the Structural Description of the Deep Phenotype in Disorders of Sexual Development |
| title_sort | checklist for the structural description of the deep phenotype in disorders of sexual development |
| url | http://dx.doi.org/10.1155/2012/816365 |
| work_keys_str_mv | AT lwunsch checklistforthestructuraldescriptionofthedeepphenotypeindisordersofsexualdevelopment |