I-DSD/I-CAH newsletter - April 2018

Welcome to the April newsletter

This is the new quarterly update on current activities in the I-DSD and I-CAH registries. If you have an item you would like to include in future newsletters, please contact Jillian.Bryce@glasgow.ac.uk

User membership

As the I-DSD/I-CAH Registries become independent of any single anchor funder, they are adopting a new membership structure with different levels of membership. For full details regarding membership costs and benefits, please see here.

Recent outputs from the registry

For full author details, please see the list of publications on the website.

Sanders C et al. ‘Involving individuals with disorders of sex development and their parents in exploring new models of shared learning: Proceedings from a DSDnet COST action workshop’.  Sex Dev 2018 (in press).

Poyrazoglu S et al. ‘Birth weight in different etiologies of disorders of sex development’. J Clin Endocrinol Metab. 2017; 102:1044-1050.

Kourime M et al. ‘An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development’. Orphanet J Rare Dis. 2017; 12:56. 

Dessens A et al. ‘Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development’. BMJ Paediatrics Open, August 2017   .

Kodra Y et al. ‘Data Quality in Rare Diseases Registries’. Adv Exp Med Biol. 2017; 1031:149-164. 

Kourime M et al. ‘Virtual Networks for Exchanging Information and Biomaterials: Future Directions’. Sex Dev. 2018;12: 134-138.

Active Research Studies

2018      Katya DeGroote (Ghent), ‘Cardiovascular pathology in patients with 45,X/46,XY (or variant) karyotypes’

2017      Lloyd Tack (Ghent), ‘Growth and pubertal course in 46,XY SGA boys born with atypical genitalia of unknown origin’. 

2017      Guilherme Guaragna Filho (Campinas), ‘Evaluation of Puberty in Females with Partial Androgen Insensitivity Syndrome (PAIS)’.                          

2017      Angela Lucas-Herald (Glasgow), ‘Trends in gonadectomy in DSD’

2017      Ken McElreavey (Paris), ‘Defining new genetic aetiologies for syndromic DSD’. 

2017      Alexander Springer (Vienna), ‘Changes in surgical practice in CAH’.

2016      Nadine Hornig (Kiel), ‘Identification of co-regulators of the androgen receptor leading to AIS type’.

2016      Nils Krone (Sheffield), ‘Defining the dose, type and timing of glucocorticoid treatment in children and adults with Congenital Adrenal Hyperplasia (CAH-UK)’.

2016      Salma Ali (Glasgow), ‘A web-based platform for patient reported outcome research In CAH (PRO-CAH)’.

Recently Completed Studies:

Hedi Claahsen & Uta Neumann (Nijmegen & Berlin), ‘Fludrocortisone study in <3year olds with CAH’. In final analysis.

Data Sharing Agreement

Accessing data in the I-DSD and I-CAH registry is subject to completion of a data sharing agreement by the requesting party and the Office for Rare Conditions.

New Science Panel

We are pleased to announce that there is a new panel of experts that has been created to assess requests for accessing data from the Registry. This will consist of Faisal Ahmed (Glasgow), Anna Nordenstrom (Stockholm), Jillian Bryce (Glasgow), Salma Ali (Glasgow), Hedi Claahsen (Nijmegen), Nils Krone (Sheffield), Cunyi Wang (Glasgow), Nadine Hornig (Kiel).

New Faces In The Project Management Team In Glasgow

We are pleased to introduce you to some new people in the Project Management Group in Glasgow.

• Salma Ali (Clinical Researcher, CAH)
• Cunyi Wang (Statistician)

Both are members of the new Science Panel and will be able to provide support for registry studies.

Patient Area - Local Language

Using a translation tool, patients who have been given access to their record in the registry will be able to view this and their centre’s details in another language.   For more information on patient access – link to website protocol.

Launch of EuRRECa

EuRRECa (European Registries for Rare Endocrine Conditions) is aimed at maximising the opportunity for all patients, health care professionals and researchers to participate and use high-quality, patient-centred registries for rare endocrine conditions covered within the European Reference Network on Rare Endocrine Conditions (Endo-ERN). The project is funded by the EU and was  launched in February 2018 and, will achieve its aim by running an e-reporting programme (e-REC), developing a new core registry that collects a core dataset that also includes objective markers of clinical outcome and, lastly, by signposting participants to high-quality, detailed, disease-specific registries such as the I-DSD or I-CAH Registry. For more information, visit the EuRRECa website: https://eurreca.net/

ESPU Statement on DSD Surgery

The European Society for Paediatric Urology wrote an Open Letter to the Council of Europe, responding to the Recommendation issue 2191 of the Parliamentary Assembly of the Council of Europe (PACE), published 12 October 2017. Read it here: https://www.espu.org/images/documents/ESPU_Open_Letter_to_COE_2018-01-26.pdf

Dr. Claude Jean Migeon, 1923-2018

Claude Migeon, M.D., the director of paediatric endocrinology at the Johns Hopkins University School of Medicine from 1961 to 1994 and the scientist whose early focus on steroid metabolism established the norms of adrenal function in infancy and childhood, passed away on March 4 2018 at the age of 94. Read the obituary for Dr Migeon here.