I-DSD/I-CAH newsletter- August 2020

Welcome to the August 2020 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 Meilan Rutter (PES) who is replacing Yee-Ming Chan on the Steering Committee and Terry Piloya-Were who is representing the DSD Working Group of the African Society of Paediatric and Adolescent Endocrinology.  We would like to thank the Committee for their recent input into the programme for the 8th I-DSD Symposium.

The current members of the Scientific Panel are listed at home.i-dsd.org/scientific-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 Steering Committee will have vacancies in January 2021 and current users of the I-DSD or I-CAH Registries are invited to apply by the 15th of December 2020. Applications are particularly welcome from those from the Latin American region and those with experience of clinical benchmarking.

New I-DSD/I-CAH Platform

We are pleased to announce the launch of the new I-DSD/I-CAH registry platform. You can find out more about the new platform at home.i-dsd.org/new-platform/.  Please use the new platform and tell us what you think; your feedback is very important. To access the new platform, go registry.i-dsd.org/user/login

Turner Syndrome

Congratulations to Janielle van der Velden (Radboud MC, Nijmegen) for securing a registry development grant that will lead to the development of a Turner Syndrome registry within the existing I-DSD/I-CAH platform.

Neurocrine Biosciences

Neurocrine Biosciences, Inc. has entered into a project agreement with the University of Glasgow to support the activities of I-CAH.  The project will be directed at improving the quality of data within the registries and strengthening the role of the registries in improving the quality of care at participating centres.

Upcoming events

I-DSD/CAH User Group Meeting - Webinar - 9th September 2020

These are biennial meetings of Clinicians and Researchers that use the I-DSD/I-CAH registries to conduct research studies.  The user group meetings provide researchers with the opportunity to update the I-DSD/CAH community on active studies as well as those that have recently been completed. To view the programme or to register visit home.i-dsd.org/i-dsd-i-cah-user-meeting/

I-DSD Symposium 8th-10th July 2021

The 8th International Symposium on DSD will take place at the University Hospital Bern.  The programme will be available on the Symposium webpage home.i-dsd.org/the-8th-i-dsd-symposium-2021/. The registration and abstract site will open on 21st January 2021

Postgraduate Course in Multidisciplinary Care of DSD 6th-7th July 2021

For the first time, I-DSD/CAH is holding a training course in DSD and this will take place on the 6-7th of July 2021 in Bern, immediately prior to the I-DSD Symposium. Violeta Iotova from Varna, Bulgaria is acting as the course coordinator and further information will appear on home.i-dsd.org/i-dsd-pg-course/. If you are interested in attending please save the dates. The registration site will open on  21st January 2021

I-DSD Research Activities

I-DSD Research Highlight

“SF-1 Next”

Comprehensive data on clinical characteristics and the genetic network is lacking in people with SF-1/NR5A1 variants. This study, led by Christa Flüeck and Grit Sommer from the University of Bern, aims at assembling a large group of individuals with rare SF-1/NR5A1 variants to characterize their phenotype and to identify additional genetic variants related to their disease. It will link information on individuals’ phenotypes to their respective genotypes and investigate the collaborative impact of SF-1/NR5A1 and additional genetic variants on sex development and steroidogenesis. Data collection is open until November 2020.  It includes routine clinical data, family history and genetic data for all people with a confirmed SF-1 variant. Biomaterial for genetic and mechanistic studies is also collected in a subset of study subjects. Interested clinicians can contact Christa Flück (christa.flueck@dbmr.unibe.ch) or Grit Sommer (grit.sommer@dbmr.unibe.ch) for more information on the project. Everybody is welcome to contribute.

I-DSD Projects That Are Currently Active

  • SF-1 next, Grit Sommer and Christa Flüeck, University of Bern.
  • Gonadal outcome in 17 beta-HSD deficiency and 5 alpha-reductase deficiency (GOBHAR), Sabine Hannema, Erasmus MC.
  • 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.
  • Identification of co-regulators of the androgen receptor leading to AIS type II, Nadine Horng, University of Kiel.
  • Quality assessment of the I-DSD Registry, Angela Lucas-Herald, University of Glasgow.

I-DSD Related Outputs Over The Last Year

  • Leunbach TL, O’Toole S, Springer A, Williamson PR, Ahmed SF. A systematic review of core outcomes for hypospadias surgery. Sex Dev 2019; 13:165-170.
  • Flück C, Nordenström A, Ahmed SF, Ali S, Berra M, Hall J, Köhler B, Pasterski V, Robeva , Schweizer K, Springer A, Westerveld P, Hiort O, Cools M, Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet. Eur J Endocrinol 2019;181:545-564.
  • Hiort O, Cools M, Springer A, McElreavey K, Greenfield A,  Wudy S, Kulle A, Ahmed SF, Dessens A, Balsamo A,  Maghnie M, Bonomi M, Dattani M, Persani L, Audi L,  Addressing gaps in care of people with conditions affecting sex development and maturation. Nat Rev Endocrinol 2019;15:615-622.
  • Van der Straaten S, Springer A, Zecic A, Hebenstreit D, Tonnhofer U, Gawlik A, Baumert M, Szeliga K, Debulpaep S, Desloovere A, Tack L, Smets K, Wasniewska M, Corica D, Calafiore M, Lindhardt Ljubicic M, Siegfried Busch A, Juul A, Nordenström A, Sigurdsson J, Flück C, Haamberg T, Graf S, Hannema S, Wolffenbuttel K, Hiort O, Ahmed SF, Cools M, The External Genitalia Score (EGS): A European multicenter validation study. J Clin Endocrinol Metab 2019;105:e222-230.
  • Stancampiano MR, Lucas-Herald AK, Russo G, Rogol AD, Ahmed SF. Testosterone therapy in adolescent boys: the need for a structured approach. Horm Res Paediatr 2019;92:215-228.


I-CAH Research Activities

I-CAH Research Highlight

“International practice of hormone replacement in CAH”

Published guidance provides broad recommendations on the hormonal management of 21-hydroxylase deficiency but there is a non-unified approach to treatment in clinical practice.  The translational research programme at the University of Sheffield, led by Nils Krone collaborated with the I-CAH Registry to provide a global overview on hormone replacement therapy in CAH. Data from 16 countries (32 centres) and the gluco- and mineralocorticoid treatment of 4733 patient visits from 566 patients with 21-hydroxylase deficiency was analysed. Significant differences were found between age groups with regards to daily glucocorticoid doses, with the lowest dose at age 1 - 8 years and the highest dose at age 12 - 18 years. Doses decreased after 2010 in patients 0 - 8 years (p<0.001) and over 30 years (p=0.034) and increased in patients 18 - 30 years old (p=0.011). There was wide variation between countries regarding type, dose and timing of steroid treatment. Overall, the marked heterogeneity identified in hormonal replacement highlights the need for further insights into different management strategies in CAH and their impact on long-term outcomes. These data have been submitted for publication.  

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, Adaway J, Hawley J, Mahdi S, Krone R, Patel L, Alvi S, Randell T, Gevers E, Dattani M, Cheetham T, Kyriakou A, Schiffer L, Ryan F, Crowne E, Davies J, Ahmed SF, Keevil B, Measurement of salivary adrenal-specific androgens as biomarkers of therapy control in 21-Hydroxylase Deficiency. J Clin Endocrinol Metab. 2019;104:6417-6429.
  • 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;105.

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


Next Newsletter February 2021

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