I-DSD/I-CAH newsletter- February 2021

Welcome to the February 2021 Newsletter

This is the 6-monthly 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:

General News

Steering Committee

The current members of the Steering Committee are listed at home.i-dsd.org/steering-committee/. We welcome Justin Davies (Southampton), Guilherme Guaragna Filho (Porto Alegre), Claus Gravholt (Aarhus) and Arlene Smyth (TSS UK). Guilherme is replacing Rodolfo Rey on the Steering Committee representing Latin America and we thank Rodolfo for his long-standing involvement in I-DSD. 

New Information Sheets & Consent Forms

The I-DSD and I-CAH Registries undergo 5 yearly approvals by the local ethics and data governance authorities in the UK. The last approval was obtained in September 2019. Whilst all processes remain compliant with GDPR and the UK Data Protection Act, all registry users are asked to look at the most recent Information Sheets and Consent Forms and update their local paperwork as necessary. It is generally good practice to update all local approvals every 5 years.

Scientific Panel

The current members of the Scientific Panel are listed at home.i-dsd.org/scientific-panel/ and we welcome Janielle van der Velden (Nijmegen) to the Panel. We would like to thank the Panel for all their hard work examining the progress of current research activities and checking all the new applications. The access pathway for data is currently being revised to facilitate greater access to data for a wide range of purposes. With imminent vacancies in the Panel, current users of the I-DSD or I-CAH Registries are invited to apply by the 15th of May 2021. 

Turner Syndrome

Over the last few years, the registry platform that is used for the I-DSD and I-CAH registries was also being used to enter cases of Turner Syndrome. To facilitate this further, a new module for TS will be developed over the next year. The I-TS website (i-turnersyndrome.org) has recently been launched and patient information sheets and consent forms for TS are now available and can be used now to enrol patients in the current Registry. 

Quality Improvement

I-DSD/I-CAH is increasing its focus on quality improvement of the registries as well as quality improvement of care of people with DSD and CAH. Justin Davies (Southampton) has recently been appointed to the Steering Committee as lead for care quality improvement. Following the recent publication of acute adrenal insufficiency related adverse events in CAH, the project group has developed individual reports for all I-CAH centres that participated in that project. All centres will be encouraged to update the CAH dataset on a 6-monthly interval so that provision of individual centre reports can be repeated in the future. For more information please contact Salma Ali (salma.ali@glasgow.ac.uk).

Education events

I-DSD Symposium 8th-9th July 2021

Due to the global pandemic the 8th International Symposium on DSD will now take place on-line with the help of the Office for Rare Conditions, Glasgow.  The programme is available on the Symposium webpage home.i-dsd.org/the-8th-i-dsd-symposium-2021/

ESPE CAH meeting 2021

This meeting was postponed in 2020 and will now take place on October 29th and 30th, 2021 in Nijmegen (Local Host, Hedi van Claahsen). For more information visit the website www.espe-science-symposium-2021.com/

I-DSD 2022

The next face-to-face meeting will be the 9th International Symposium on DSD which will take place in Bern on 14-16th July 2022 (Local Host, Christa Fleuck).  A revised programme is in development.

Postgraduate Course in Multidisciplinary Care of DSD 12-14th July 2022

For the first time, I-DSD/I-CAH is holding a training course in DSD and this will now take place on the 12-14th of July 2022 in Bern, immediately prior to the I-DSD Symposium. Violeta Iotova (Varna) is acting as the course coordinator and further information will appear on home.i-dsd.org/i-dsd-course/

If you are interested in attending these events, please SAVE THE DATES. 

I-DSD Research Activities

I-DSD Research Highlight

AIS studies

Recruitment is ongoing on three related studies in AIS. The first study, led by Dr Nadine Hornig (Kiel) is investigating co-regulators of the androgen receptor (AR) and information is being collected on those with 46, XY DSD who are diagnosed with PAIS, CAIS or a Non-Specific DSD and who do not have a proven AR variant. The second study led by Dr Angela Lucas-Herald (Glasgow) is investigating the correlation between testosterone levels post hCG stimulation test and Anti-Mullerian Hormone levels in PAIS. The last study led by Dr Supitcha Patjamontri (Glasgow) and is assessing the management and consequences of gynaecomastia in male adolescents with PAIS who are over the age of 10 years. All three studies are using a common template for collecting information so that the burden on the clinical reporter is reduced. This is an excellent opportunity to be involved in multiple studies at once. If you have patients you would like to include in these studies or if you have not returned your centre’s data yet, we would be very grateful if you got in touch via angela.lucas-herald@glasgow.ac.uk. Details of the studies can be found at home.i-dsd.org/ais-studies/

I-DSD Projects That Are Currently Active

  • Identification of co-regulators of the androgen receptor leading to AIS type II, Nadine Horng, University of Kiel.
  • The management & consequences of gynaecomastia in Partial Androgen Insensitivity Syndrome, Supitcha Patjamontri, University of Glasgow
  • Serum Anti-Müllerian Hormone in the prediction of response to hCG stimulation in children with PAIS: an I-DSD Registry cohort study, Angela Lucas-Herald, University of Glasgow.
  • Gonadal outcome in 17 beta-HSD deficiency and 5 alpha-reductase deficiency (GOBHAR), Sabine Hannema, Erasmus MC.
  • SF-1 next, Grit Sommer and Christa Flüeck, University of Bern.
  • Quality assessment of the I-DSD Registry, Angela Lucas-Herald, University of Glasgow.

I-DSD Related Outputs Over The Last Year

I-CAH Research Activities

I-CAH Research Highlight

Real World Estimates Of Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia

Previous studies have provided some insight into clinical factors that may be associated with acute adrenal insufficiency related adverse events, namely adrenal crises (AC) and their prodrome, sick day episodes (SDE). However, this study represents the first international collaboration investigating the epidemiology of these events in a large cohort of children. Salma Ali (Glasgow) collaborated with colleagues from 34 centres in 18 countries who use the I-CAH Registry to provide a global overview of acute adrenal insufficiency related adverse events in children. A total of 2,300 patient years from 5,388 clinic visits were analysed from 518 children. Of the 1,544 SDE reported an AC occurred in 62 (4%), with no fatalities. Infectious illness was the most frequent precipitating event and comparing cases between high income and low middle income countries showed that SDE, but not AC, were more likely to be reported in the former. This work will now be sustained as a long-term quality improvement project. Details of the study can be found at home.i-dsd.org/cah-studies/

I-CAH Projects That Are Currently Active

  • A survey on the management of adrenal insufficiency related adverse events in children with CAH. Salma Ali, University of Glasgow.
  • Cardiometabolic morbidity in adults with CAH. Beatrice Righi, University of Bologna.
  • Growth-related characteristics in CAH patients <18 years. Mallory Farrar, Neurocrine Biosciences.
  • Clinical care and outcomes in rare forms of CAH. Irina Bacila, University of Sheffield
  • Global approach to monitoring CAH in children, Irina Bacila, University of Sheffield.

I-CAH Related Outputs Over The Last Year

  • Bacila I, Freeman N, Daniel E , Sandrk M, Bryce J, Ali SR, Abalı ZY, Atapattu N, Bachega TA, Balsamo A, Birkebæk N, Blankenstein O, Bonfig W, Cools M, Correa Costa E, Darendeliler F, Einaudi S, Elsedfy HH, Finken M, Gevers E, Claahsen-van der Grinten HL, Guran G, Güven A, Hannema SE, Higham CE, Iotova V, van der Kamp HJ, Korbonits M, Krone RE, Lichiardopol C, Luczay L, Mendonca BB, Milenkovic T, Miranda MC, Mohnike K, Neumann U, Ortolano O, Poyrazoglu S, Thankamony A, Tomlinson JW, Vieites A, de Vries L, Ahmed SF, Ross RJ and Krone NP.  International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia - data from the I-CAH registry. Eur J Endocrinol 2021
  • Ali S, Bryce J, Haghpanahan H, Lewsey J, Tan L, Atapattu N, Birkebaek N, Blankenstein O, Neumann U, Balsamo A, Ortolano R, Bonfig W,  Claahsen-van der Grinten H, Cools M, Correa Costa E, Darendeliler F, Poyrazoglu S, Elsedfy H, Finken M, Fluck C, Gevers E, Korbonits M, Guaragna-Filho G, Guran T, Guven A, Hannema S, Higham C, Hughes I, Tadokoro-Cuccaro R, Thankamony A, Iotova V, Krone N, Krone R, Lichiardopol C Luczay A, Mendonca B, Bachega T, Miranda M, Milenkovic T, Mohnike K, Nordenstrom A, Einaudi S, van der Kamp H, Vieites A, de Vries L, Ross R, Ahmed SF. Real World Estimates Of Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal HyperplasiaJ Clin Endocrinol Metab 2021
  • Pofi R, Prete A, Thornton-Jones V, Bryce J, Ali SR, Ahmed SF, Balsamo A, Baronio F,  Cannuccia A, Guven A, Guran T, Darendeliler F, Higham C, Bonfig W, de Vries L, Bachega TASS, Miranda MC, Mendonca BB, Iotova V,  Korbonits M, Krone NP, Krone R, Lenzi A, Arlt W, Ross RJ, Isidori AM, Tomlinson JW. Plasma renin measurements are unrelated to mineralocorticoid dose in patients with primary adrenal insufficiency. J Clin Endocrinol Metab 2020


Visit the I-DSD & I-CAH websites for a full list of publications

The I-DSD & I-CAH Registries would like to thank its users for continuing to help with past and currently active studies. For a list of currently active studies, please visit home.i-dsd.org/ongoing-studies If you have an idea for a new study please feel free to contact us at registry@i-dsd.org and we can help you develop your ideas on how you can use the data in the registries.


Next Newsletter August 2021

University of Glasgow

Office for Rare Conditions

Royal Hospital for Children & Queen Elizabeth University Hospital


Tel: +44 141 451 5843