New Concepts for Human Disorders of Sexual Development

Description

In the last few years, impressive research has been done on disorders of sex development (DSD), largely expanding the physiopathology with relevant effects on practice. Thus, management of individuals with DSD requires updated scientific knowledge, integrating basic and clinical information. In addition, doctors involved in the care of individuals with DSD need to develop specific personal skills in communication, ethics, legal issues and the ability to work together in dedicated multidisciplinary teams. National or even international networks are also mandatory to create stringent structures for correctly addressing the care of individuals with DSD and to offer them a better long-term outcome. This special issue of Sexual Development covers several of these hot topics and highlights some aspects of research and management. A special paper from a patient support group has been enclosed to present the opinion of affected people. All the authors have been selected regarding their expertise and documented competencies.

Sujets

• Sexualité
• sexualité
• Sexualité

Informations

• Publié par: S. Karger AG
• Date de parution: 28 septembre 2010
• Nombre de lectures: 0
• EAN13: 9783805595698
• Langue: English
• Poids de l'ouvrage: 2 Mo

Extrait

Sexual Development

New Concepts for Human Disorders of Sexual Development
Editors
Silvano Bertelloni , Pisa
Olaf Hiort , Lübeck
26 figures, 20 in color, and 20 tables, 2010
S. Karger
Medical and Scientific Publishers
Basel • Freiburg • Paris • London • New York • Bangalore • Bangkok • Shanghai • Singapore • Tokyo • Sydney
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© Copyright 2010 by S. Karger AG,
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Printed in Switzerland
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Sexual Development
Vol. 4, No. 4–5, 2010

Contents
Preface
Bertelloni, S. (Pisa); Hiort, O. (Lübeck)
The European Disorder of Sex Development Registry: A Virtual Research Environment
Ahmed, S.F.; Rodie, M.; Jiang, J.; Sinnott, R.O. (Glasgow)
Ontogenesis of Testis Development and Function in Humans
Stukenborg, J.B.; Colón, E.; Söder, O. (Stockholm)
New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)
Bashamboo, A. (Paris); Ledig, S.; Wieacker, P. (Münster); Achermann, J.C. (London); McElreavey, K. (Paris)
Copy Number Variants in Premature Ovarian Failure and Ovarian Dysgenesis
Ledig, S.; Röpke, A.; Wieacker, P. (Münster)
Impact of Molecular Genetics on Congenital Adrenal Hyperplasia Management
Balsamo, A.; Baldazzi, L.; Menabò, S.; Cicognani, A. (Bologna)
Klinefelter's Syndrome: A Clinical and Therapeutical Update
Forti, G. (Florence); Corona, G. (Bologna); Vignozzi, L.; Krausz, C.; Maggi, M. (Florence)
Tumor Risk in Disorders of Sex Development
Pleskacova, J. (Prague); Hersmus, R.; Oosterhuis, J.W. (Rotterdam); Setyawati, B.A.; Faradz, S.M. (Semarang); Cools, M. (Ghent); Wolffenbuttel, K.P. (Rotterdam); Lebl, J. (Prague); Drop, S.L.; Looijenga, L.H. (Rotterdam)
Bone Health in Disorders of Sex Differentiation
Bertelloni, S.; Baroncelli, G.I. (Pisa); Mora, S. (Milan)
A Study of Gender Outcome of Egyptian Patients with 46, XY Disorder of Sex Development
Ismail, S.I.; Mazen, I.A. (Cairo)
Management of Vaginal Hypoplasia in Disorders of Sexual Development: Surgical and Non-Surgical Options
Deans, R.; Berra, M.; Creighton, S.M. (London)
Ethical Guidelines for the Clinical Management of Intersex
Wiesemann, C. (Goettingen)
Disclosing Disorders of Sex Development and Opening the Doors
D'Alberton, F. (Bologna)
Importance of Support Groups for Intersex (Disorders of Sex Development) Patients, Families and the Medical Profession
Cull, M.L. (Lichfield); Simmonds, M. (London)
Author Index Vol. 4, No. 4-5, 2010
Sexual Development

Sex Dev 2010;4:191 DOI: 10.1159/000315960
Preface
The disorders of sex development (DSD) represent an important field in both research and the clinical setting. In the last years, impressive improvements in both clinical management as well as structured research approaches have been made and they had major effects on clinical practice. Thus, the correct management of individuals with DSD requires updated scientific knowledge in this very specialized area, integrating basic and clinical information. In addition, doctors involved in the care of individuals with DSD need to develop specific personal skills in communication, ethics, legal issues, and, last but not least, the capacity to work together in a dedicated team, comprising biologists, genetists, neonatologists, pediatric endocrinologists, pediatric surgeons, psychologists, etc. The development of national as well as international networks is also mandatory to create stringent structures for correctly addressing the care of more difficult cases, creating data bases for improvement of epidemiology, and to offer better long-term outcome for our patients in the future.
In the last years, several initiatives renewed the interest of clinicians for DSD, for example: the ESPE/LWEPS Consensus Conference on Intersex Disorders (Chicago, USA, 2005), the constitution of a DSD Working Group within the European Society for Paediatric Endocrinology (ESPE), the EuroDSD network funded by the European Commission in the 7th Framework Programme. In addition, some dedicated specialized meetings were held in Germany and in Italy. These experiences permitted to exchange ideas and to create a well-integrated group of specialists working on DSD in Europe.
This themed issue of Sexual Development presents a series of articles mainly reflecting these experiences and written by colleagues who have been recognized as true experts in each chosen area. They cover several hot topics, provide short ‘state of the art’ papers on specific disorders and update some research or management aspects. We are also honored to host a special contribution from a patient support group to additionally open the eyes of scientists on the opinions and requests of affected people. All the authors have been selected based on their expertise, their documented distinctive competencies and their abilities to make complex topics available to all health care providers.
We hope that the readers will find this themed issue not only enjoyable but also helpful in the clinical care of individuals with DSD. In addition, we would like to take the opportunity to express our gratitude and thanks to all the authors involved in this selected issue for the high-level papers they submitted. We also thank the reviewers for their time and expertise as well as the Chief Editors of Sexual Development for giving us the honor to publish this elaborate issue. In particular, we need to thank Michael Schmid for his invaluable advice, support and friendship.
Silvano Bertelloni (Pisa) Olaf Hiort (Lübeck) May 2010
Sexual Development

Sex Dev 2010;4:192–198 DOI: 10.1159/000313434
Published online: May 26, 2010

The European Disorder of Sex Development Registry: A Virtual Research Environment
S.F. Ahmed a M. Rodie a J. Jiang b R.O. Sinnott b
a Developmental Endocrinology Research Group, Royal Hospital for Sick Children, and b National e-Science Centre, University of Glasgow, Glasgow, UK
________________
Key Words
Database Intersex Network
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Abstract
Disorders of sex development (DSD) are a rare group of conditions which require further research. Effective research into understanding the aetiology, as well as long-term outcome of these rare conditions, requires multicentre collaboration often across national boundaries. The EU-funded EuroDSD programme ( www.eurodsd.eu ) is one such collaboration involving clinical centres and clinical and genetic experts across Europe. At the heart of the EuroDSD collaboration is a European DSD registry and a targeted virtual research environment (VRE) that supports the sharing of DSD data. Security, ethics and information governance are cornerstones of this infrastructure. This paper describes the infrastructure that has been developed, the inherent challenges in security, availability and dependability that must be overcome for the enterprise to succeed and provides a sample of the data that are stored in the registry along with a summary analysis of the current data sets.
Copyright © 2010 S. Karger AG, Basel
Suspected cases of a disorder of sex development (DSD) are usually present in early infancy with a variable abnormality of the development of the external and/or internal reproductive organs. There is a large amount of variation in how these patients are managed across the world. In addition, there are enormous gaps in our knowledge about the aetiology of these conditions and the long-term outcome in affected adults. The management of these patients requires multidisciplinary input, and, increasingly, this service is being delivered through organised clinical networks which rely on research as a means of auditing and improving their service.
The Consensus Workshop on DSD which was jointly hosted by the European Society of