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...

Full description

Saved in:
Bibliographic Details
Main Author: L. Wünsch
Format: Article
Language:English
Published: Wiley 2012-01-01
Series:International Journal of Endocrinology
Online Access:http://dx.doi.org/10.1155/2012/816365
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1832562142551736320
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