The I-DSD/I-CAH/I-TS Registry is a central resource for supporting projects in the fields of DSD/CAH/TS. The registry supports both primary and secondary research. Below is a list of recent studies and the outputs from studies can be found here.
| Title | Blood pressure status and determinants in Congenital Adrenal Hyperplasia (CAH) [Study ID 202107_NL] |
| PI | Neil Lawrence |
| Institution | University of Sheffield, Sheffield Children’s Hospital |
| Co-Is | Nils Krone, Eleni Daniel, Irina Bacila, Sheffield; Jeremy Tomlinson, Oxford |
| Approved | July 21 |
| Recruiting | open |
| Title | Assessment of bone age in individuals with sex chromosomal mosaicism [Study ID 202106_MC] |
| PI | Martine Cools |
| Institution | UZ Ghent |
| Co-Is | Jessica Bosmans, Ghent |
| Approved | June 21 |
| Recruiting | open |
| Title | 46,XY Gonadal dysgenesis; diagnosis and long-term outcome [Study ID 202105_AT] |
| PI | Ajay Thankamony |
| Institution | Addenbrookes Hospital, Cambridge |
| Co-Is | Rieko Tadokoro-Cuccaro, Ieuan Hughes, Cambridge; Liz Hook, Andréa T. Maciel Guerra, Gil Guerra Junior, Juliana Andrade, Berenice Bilharinho de Mendonça, Sao Paulo; Angela Lucas-Herald, Glasgow; Sabine Hannema, Amsterdam; Martine Cools, Ghent; Anders Juul, Copenhagen |
| Approved | May 21 |
| Recruiting | open |
| Title | The protective mechanisms in untreated CAH – The CAH-PROTECT study [Study ID 202105_HC] |
| PI | Hedi Claahsen |
| Institution | Radboud MC, Nijmegen |
| Co-Is | Bas Adriaansen, Teun v Herwaarden, Fred Sweep, Paul Span |
| Approved | May 21 |
| Recruiting | open |
| Title | Growth characteristics of patients with 21-OHD classic CAH in the I-CAH registry [Study ID 202102_MF] |
| PI | Mallory Farrar |
| Institution | Neurocrine Biosciences |
| Co-Is | Federico Baronio, Bologna; Walter Bonfig, Munich; Hedi Claahsen-van der Grinten, Nijmegen; Nils Krone, Sheffield, Faisal Ahmed, Glasgow |
| Approved | Feb 21 |
| Recruiting | open |
| Title | Mapping the development of the gonads one cell at a time [Study ID 202102_RVT] |
| PI | Roser Vento-Tormo |
| Institution | Wellcome Sanger Institute, Cambridge |
| Co-Is | Faisal Ahmed, Angela Lucas-Herald, Glasgow; Martine Cools, Ghent; Sabine Hannema, Amsterdam; Anders Juul, Copenhagen |
| Approved | Feb 21 |
| Recruiting | open |
| Title | A Survey On The Management Of Adrenal Insufficiency Related Adverse Events In Children [Study ID 202008_SA] |
| PI | Salma Ali |
| Institution | University of Glasgow |
| Co-Is | Nils P. Krone, Sheffield; Hedi L. Claahsen-van der Grinten, Nijmegen; S. Faisal Ahmed, Jillian Bryce, Glasgow |
| Approved | Aug 2020 |
| Recruiting | closed |
| Title | The Management & Consequences Of Gynaecomastia In Partial Androgen Insensitivity Syndrome [Study ID 202008_SP] |
| PI | Supitcha Patjamontri |
| Institution | University of Glasgow |
| Co-Is | Syed Faisal Ahmed, Angela Lucas-Herald, Glasgow; Anders Juul, Copenhagen; Sumudu Nimali Seneviratne, Colombo; Paul Hoffman, Auckland; Olaf Hiort, Lübeck |
| Approved | Aug 2020 |
| Recruiting | open |
| Title | Identification of co-regulators of the androgen receptor leading to AIS type II [Study ID 202008_NH] |
| PI | Nadine Hornig |
| Institution | University of Kiel |
| Co-Is | Paul-Martin Holterhus, Kiel |
| Approved | Aug 2020 |
| Recruiting | open |
| Title | Serum Anti-Müllerian Hormone In The Prediction Of Response To hCG Stimulation In Children With PAIS: an I-DSD Registry Cohort Study [Study ID 202008_ALH] |
| PI | Angela Lucas-Herald |
| Institution | University of Glasgow |
| Co-Is | Faisal Ahmed, Glasgow |
| Approved | Aug 2020 |
| Recruiting | open |
| Title | Quality assessment of the I-DSD and I-CAH Registries [Study ID 202006_ALH] |
| PI | Angela Lucas-Herald |
| Institution | University of Glasgow |
| Co-Is | Craig McMillan, Jillian Bryce, Salma Ali, Martin McMillan, S. Faisal Ahmed, Glasgow |
| Approved | June 2020 |
| Title | Global approach to monitoring Congenital Adrenal Hyperplasia (CAH) in children [Study ID 202005_IB] |
| PI | Neil Lawrence |
| Institution | University of Sheffield |
| Co-Is | Irina Bacila, Nils Krone, Sheffield |
| Approved | May 2020 |
| Recruiting | open |
| Title | Gonadal outcome in 17beta-HSD deficiency and 5alpha-reductase deficiency (GOBHAR study) [Study ID 202001_SH] |
| PI | Sabine Hannema |
| Institution | Erasmus MC |
| Co-Is | |
| Approved | Jan 2020 |
| Recruiting | open |
| Title | SF1 next [Study ID 201810_GS] |
| PI | Grit Sommer |
| Institution | University of Bern |
| Co-Is | Christa Flueck, Bern |
| Approved | Dec 2018 |
| Recruiting | open |
| Title | Clinical care and outcomes in rare forms of congenital adrenal hyperplasia: analysis of data available within the International-CAH Registry [Study ID 201909_IB] |
| PI | Irina Bacila |
| Institution | University of Sheffield |
| Co-Is | Nils Krone, Sheffield |
| Approved | Sept 2019 |
| Recruiting | open |
| Title | Adverse Events in Congenital Adrenal Hyperplasia (CAH) [Study ID 201808_SA] |
| PI | Salma Ali |
| Institution | University of Glasgow |
| Co-Is | Richard Ross, Eleni Daniel, Maulee Arambewela, Sheffield |
| Approved | Aug 2018 |
| Recruiting | open |
| Outputs | Ali et al J Clin Endocrinol Metab 2021 |
| Title | Cardiometabolic Morbidity In Adults With 21-Hydroxylase Deficiency CAH [Study ID 201911_BR] |
| PI | Beatrice Righi |
| Institution | University of Bologna |
| Co-Is | Faisal Ahmed, Salma Ali, Glasgow; Richard Ross, Sheffield; Richard Auchus, Ann-Arbor |
| Approved | Jan 2020 |
| Recruiting | closed |
| Outputs | Manuscript in preparation |
| Raw data | available |
| Title | Testosterone replacement therapy in boys and young men in the I-DSD Registry [Study ID 201902_MS] |
| PI | Marianna Stancampiano |
| Institution | University of Milan |
| Approved | Feb 2019 |
| Recruiting | closed |
| Outputs | Stancampiano et al, Sexual Development 2021 |
| Raw data | available |
| Title | Long term outcome of 46, XY Leydig Cell Hypoplasia (LCH) cases [Study ID 201901_AB] |
| PI | Alessandra Boncompagni |
| Institution | University of Modena |
| Approved | Jan 2019 |
| Recruiting | closed |
| Outputs | Manuscript in preparation |
| Raw data | available |
| Title | Cardiovascular pathology in patients with 45,X/46,XY (or variant) karyotypes. [Study ID 201802_KD] |
| PI | Katja DeGroote |
| Institution | UZ Ghent |
| Approved | Feb 2018 |
| Recruiting | closed |
| Outputs | ESPE 2018 |
| Raw data | available |
| Title | Growth and pubertal course in 46,XY SGA boys born with atypical genitalia of unknown origin [Study ID 201710_LT] |
| PI | Lloyd Tack |
| Institution | UZ Ghent |
| Approved | Oct 2017 |
| Recruiting | closed |
| Outputs | Manuscript submitted Clin Endo Jun 21 |
| Raw data | available |
| Title | International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia – data from the I-CAH registry [Study ID 201610_NK] |
| PI | Irina Bacila |
| Institution | Sheffield Children’s NHS Foundation Trust, University of Sheffield |
| ACTIVE | Oct 2016 & restarted May 2019 |
| Recruiting | closed |
| Outputs | Bacila et al Eur J Endocrinol, 2021 |
| Raw data | available |
| Title | Puberty in Females with PAIS [Study ID 201402_GGF] |
| PI | Guilherme Guaragna Filho |
| Institution | State University of Campinas |
| Approved | Sept 2017 |
| Recruiting | closed |
| Outputs | Manuscript submitted Endocrine May 2021 |
| Raw data | available |
| Title | Trends in gonadectomy in DSD [Study ID 201710_ALH] |
| PI | Angela Lucas-Herald |
| Institution | University of Glasgow |
| Active | Oct 2017 |
| Recruiting | closed |
| Outputs | Lucas-Herald et al, EJE Mar 2021 |
| Raw data | available |
| Title | Optimizing mineralocorticoid replacement in patients with CAH [Study ID 201806_JT] |
| PI | Richard Tomlinson |
| Institution | Oxford |
| Approved | June 2018 |
| Recruiting | closed |
| Outputs | Pofi R et al J Clin Endocrinol Metab, 2019. |
| Raw data | available |
| Title | Changes in surgical practice in CAH [Study ID 201703_AS] |
| PI | Alex Springer |
| Institution | Medical University of Vienna |
| Approved | March 2017 |
| Recruiting | closed |
| Outputs | Sexual Development In Press |
| Raw data | available |
| Title | Management of Fludrocortisone and salt therapy in 0-3 year old children with congenital adrenal hyperplasia (CAH) [Study ID 201511_HCVDG] |
| PI | Claahsen-van der Grinten |
| Institution | Radboudumc Amalia Children’s Hospital, Charite University of Berlin |
| Approved | Jan 2016 |
| Recruiting | closed |
| Outputs | Manuscript in preparation |
| Raw data | available |
