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 currently active studies. Links for list of Completed studies and outputs from studies.
| Title | Study ID 202305_MS Gonadal function and outcome in 46, XX testicular/ovotesticular DSD |
| PI | Margherita Sepich |
| Institution | University of Pisa |
| Co-Is | Faisal Ahmed, Glasgow, Silvano Bertelloni, Pisa, Nina Tyutyusheva, Pisa, Angela Lucas-Herald, Glasgow, Inas Mazen, Cairo, Martine Cools, Ghent, Junfen Fu, Zhejiang, Şükran Poyrazoğlu, Istanbul, Olaf Hiort, Luebeck. |
| Approved | May 2023 |
| Status | Preparing to launch |
| Title | Study ID 202212_ALH Blood pressure in males with 46,XY DSD conditions |
| PI | Angela Lucas-Herald |
| Institution | University of Glasgow |
| Co-Is | Faisal Ahmed, Glasgow; Hedi Claahsen, Radboud; Martine Cools, Ghent; Feyza Darendileler, Istanbul; Guilherme Guaragna Filho, Porto Alegre; Sabine Hannema, Amsterdam; Olaf Hiort, Luebeck; Anders Juul, Copenhagen; Tina Leunbach, Aarhus; Anna Nordenstrom, Stockholm; Marianna Stancampiano, Milan |
| Approved | Dec 2022 |
| Status | Recruiting |
| Title | Study ID 202212_EW Trends in glucocorticoid prescribing practice in CAH over the last 5 years (2017-2022) |
| PI | Emma Webb |
| Institution | Jenny Lind Children’s Hospital, Norwich |
| Co-Is | Anna Nordenström, Stockholm; Hedi L. Claahsen – van der Grinten, Nijmegen; Christa Flueck, Bern, Switzerland; Nicole Reisch, Munich; Jan Idkowiak, Birmingham |
| Approved | Dec 2022 |
| Status | Recruiting |
| Title | Study ID 201808_SA Adverse Events in Children with Congenital Adrenal Hyperplasia (CAH) |
| PI | Salma Ali |
| Institution | University of Glasgow |
| Co-Is | Xanthippi Tseretopoulou, Jillian Bryce, Faisal Ahmed and the Participating centers |
| Approved | Aug 2018 |
| Status | Collecting data for Round 2 (2019-2022) (continuous for benchmarking) |
| Outputs | Ali et al J Clin Endocrinol Metab 2021 |
| Title | Study ID 202206_MO A prospective assessment of the practice of gonadectomy in people with a Difference of Sex Development at specialist centres |
| PI | Michele O’Connell |
| Institution | The Royal Children’s Hospital Melbourne |
| Co-Is | Angela Lucas-Herald, S. Faisal Ahmed, Glasgow, Margarett Shnorhavorian, Seattle, Justin Davies, Southampton |
| Approved | June 2022 |
| Status | Launched Dec-22 (monthly surveillance) |
| Title | Study ID 202203_NK Analysis of real-world data on the care provision of children with congenital adrenal hyperplasia in the United Kingdom |
| PI | Nils Krone |
| Institution | Sheffield Children’s Hospital |
| Co-Is | Irina Bacila, Neil Lawrence, Sheffield, S. Faisal Ahmed, Glasgow, Nadia Amin, Leeds, Joanne Blair, Liverpool, Timothy Cheetham, Newcastle, Elizabeth Crowne, Bristol, Mehul Dattani, Evelien Gevers, London, Justin H Davies, Southampton, Ruth Krone, Birmingham, Mars Skae, Manchester, Harriet Miles, Edinburgh, Anuja Natarajan, Doncaster, Tabitha Randell, Nottingham, Fiona Ryan, Oxford, Ajay Thankamony, Cambridge |
| Approved | March 2022 |
| Status | Recruiting |
| Title | Study ID 202203_JD The clinical management of 21-hydroxylase deficiency CAH in early infancy |
| PI | Justin Davies |
| Institution | Southampton Children’s Hospital |
| Co-Is | David Lim, Southampton, Michele O’Connell, Melbourne, Faisal Ahmed, Salma Ali , Jillian Bryce, Glasgow, Navoda Atapattu, Colombo, Aneta Gawlik, Katowice, David Sandberg, Ann Arbor, Margarett Shnorhavorian, Seattle, Nils Krone, Sheffield |
| Approved | March 2022 |
| Status | Collecting data |
| Title | Study ID 202112_HT Prevalence, patterns, and characteristics of hypertension diagnosis and management in patients included in the International Turner Syndrome registry |
| PI | Helen Turner |
| Institution | Churchill Hospital, Oxford |
| Co-Is | M D Shani, A Dilrukshi, C G K Amiyangoda. Churchill hospital, Oxford. KJ Beck, University of Oxford |
| Approved | December 21 |
| Status | Collecting data |
| Title | Study ID 202112_CB Oral Contraceptives In Female Adolescents With 21-Hydroxylase Deficiency (CAH) To Optimize Treatment With Respect To Androgen Excess: Effects On The Metabolome? A Prospective Observational Study |
| PI | Claudia Boettcher |
| Institution | Inselspital, University Children’s Hospital, Bern |
| Co-Is | Christa Flueck, Bern |
| Approved | December 21 |
| Status | Collecting data |
| Title | Study ID 202112_JF Clinical and genetic characteristics of SRY-negative 46,XX testicular/ovotesticular DSD: results from an international registry-based study |
| PI | Junfen Fu |
| Institution | Zhejiang University School of Medicine, China |
| Co-Is | Hao Yang, Zhejiang |
| Approved | December 21 |
| Status | In analysis |
| Title | Study ID 202112_HC The earlysTART study – The association between hormonal control during infancy and early childhood and testicular adrenal rest tumour (TART) development in males with CAH |
| PI | Hedi Claahsen |
| Institution | Radboud University Medical Center |
| Co-Is | Mariska Schröder, Paul Span, Fred Sweep, Teun van Herwaarden, Bas Adriaansen, Nijmegen |
| Approved | December 21 |
| Status | In analysis |
| Title | Study ID 202112_ALH Predictors of surgical outcome in boys with hypospadias |
| PI | Angela Lucas-Herald |
| Institution | University of Glasgow |
| Co-Is | S. Faisal Ahmed, Kathryn Scougall, Stuart O’Toole, Glasgow |
| Approved | December 21 |
| Status | In analysis |
| Title | Study ID 202107_NL Blood pressure status and determinants in Congenital Adrenal Hyperplasia (CAH) |
| 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 |
| Status | In analysis |
| Title | Study ID 202106_MC Assessment of bone age in individuals with sex chromosomal mosaicism |
| PI | Martine Cools |
| Institution | UZ Ghent |
| Co-Is | Jessica Bosmans, Ghent |
| Approved | June 21 |
| Status | In analysis |
| Title | Study ID 202105_AT 46,XY Gonadal dysgenesis; diagnosis and long-term outcome |
| 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 Gabriel Ribeiro de Andrade, Berenice Bilharinho de Mendonça, Sao Paulo; Angela Lucas-Herald, Glasgow; Sabine Hannema, Amsterdam; Martine Cools, Ghent; Anders Juul, Copenhagen |
| Approved | May 21 |
| Status | In analysis |
| Title | Study ID 202105_HC The protective mechanisms in untreated CAH – The CAH-PROTECT study |
| PI | Hedi Claahsen |
| Institution | Radboud MC, Nijmegen |
| Co-Is | Bas Adriaansen, Teun v Herwaarden, Fred Sweep, Paul Span |
| Approved | May 21 |
| Status | In analysis |
| Title | Study ID 202008_NH Identification of co-regulators of the androgen receptor leading to AIS type II |
| PI | Nadine Hornig |
| Institution | University of Kiel |
| Co-Is | Paul-Martin Holterhus, Kiel |
| Approved | Aug 2020 |
| Status | In analysis |
| Title | Study ID 202001_SH Gonadal outcome in 17beta-HSD deficiency and 5alpha-reductase deficiency (GOBHAR study) |
| PI | Sabine Hannema |
| Institution | Amsterdam UMC |
| Co-Is | |
| Approved | Jan 2020 |
| Status | In analysis |
| Title | Study ID 201810_GS SF1 next | ||
| PI | Grit Sommer | ||
| Institution | University of Bern | ||
| Co-Is | Christa Flueck, Bern | ||
| Approved | Dec 2018 | ||
| Status | In analysis |
I-DSD 