The I-DSD/I-CAH Registry is a central resource for research studies in DSD and CAH. The registry supports both primary and secondary research. Below is a list of approved studies. Output from completed studies can be found here.
Approved studies
| Title | A Survey On The Management Of Adrenal Insufficiency Related Adverse Events In Children |
| PI | Ali |
| Institution | University of Glasgow |
| Approved | Aug 2020 |
| Outputs |
| Title | The Management & Consequences Of Gynaecomastia In Partial Androgen Insensitivity Syndrome |
| PI | Patjamontri |
| Institution | University of Glasgow |
| Approved | Aug 2020 |
| Outputs |
| Title | Identification of co-regulators of the androgen receptor leading to AIS type II |
| PI | Hornig |
| Institution | University of Kiel |
| Approved | Aug 2020 |
| Outputs |
| Title | Serum Anti-Müllerian Hormone In The Prediction Of Response To hCG Stimulation In Children With PAIS: an I-DSD Registry Cohort Study |
| PI | Lucas-Herald |
| Institution | University of Glasgow |
| Approved | Aug 2020 |
| Outputs |
| Title | A multicenter, open label, variable dose, two arm pilot paediatric phase 1 pk study to evaluate testosterone nasal gel (4.5% w/w) in hypogonadal boys |
| PI | Ahmed |
| Institution | University of Glasgow/Acerus |
| Approved | Aug 2020 |
| Outputs |
| Title | Quality assessment of the I-DSD and I-CAH Registries |
| PI | Lucas-Herald |
| Institution | University of Glasgow |
| Approved | June 2020 |
| Outputs |
| Title | Global approach to monitoring Congenital Adrenal Hyperplasia (CAH) in children |
| PI | Bacila |
| Institution | University of Sheffield |
| Approved | May 2020 |
| Outputs |
| Title | Gonadal outcome in 17beta-HSD deficiency and 5alpha-reductase deficiency (GOBHAR study) |
| PI | Hannema |
| Institution | Erasmus MC |
| Approved | Jan 2020 |
| Outputs |
| Title | SF1 next |
| PI | Sommer |
| Institution | University of Bern |
| Approved | Dec 2018 |
| Outputs | I-DSD 2019, SSED 2019 |
| Title | Clinical care and outcomes in rare forms of congenital adrenal hyperplasia: analysis of data available within the International-CAH Registry |
| PI | Bacila |
| Institution | University of Sheffield |
| Approved | Sept 2019 |
| Outputs |
| Title | Adverse Events in Congenital Adrenal Hyperplasia (CAH) |
| PI | Ali |
| Institution | University of Glasgow |
| Approved | Aug 2018 |
| Outputs | APAM 2019, I-DSD 2019, ESPE 2019. Manuscript in Preparation |
| Title | Cardiometabolic Morbidity In Adults With 21-Hydroxylase Deficiency CAH |
| PI | Righi |
| Institution | University of Bologna |
| Approved | Jan 2020 |
| Outputs |
Recently Completed Studies
| Title | Testosterone replacement therapy in boys and young men in the I-DSD Registry |
| PI | Stancampiano |
| Institution | University of Milan |
| Approved | Feb 2019 |
| Outputs | Manuscript in Preparation |
| Title | Long term outcome of 46, XY Leydig Cell Hypoplasia (LCH) cases |
| PI | Boncompagni |
| Institution | University of Modena |
| Approved | Jan 2019 |
| Outputs | ESPE 2019, Manuscript submitted |
| Title | Cardiovascular pathology in patients with 45,X/46,XY (or variant) karyotypes. |
| PI | DeGroote |
| Institution | UZ Ghent |
| Approved | Feb 2018 |
| Outputs | ESPE 2018 |
| Title | Growth and pubertal course in 46,XY SGA boys born with atypical genitalia of unknown origin |
| PI | Tack |
| Institution | UZ Ghent |
| Approved | Oct 2017 |
| Outputs | ESPE 2019 |
| Title | Defining the dose, type and timing of glucocorticoid treatment in children and adults with Congenital Adrenal Hyperplasia (CAH) |
| PI | Bacila |
| Institution | Sheffield Children’s NHS Foundation Trust, University of Sheffield |
| ACTIVE | Oct 2016 & restarted May 2019 |
| Outputs | ESPE 2017, ESPE 2019, Manuscript in Preparation |
| Title | Puberty in Females with PAIS |
| PI | Guaragna Filho |
| Institution | State University of Campinas |
| Approved | Sept 2017 |
| Outputs | I-DSD/CAH user group meeting, 2018. Manuscript in Preparation |
| Title | Trends in gonadectomy in DSD |
| PI | Lucas-Herald |
| Institution | University of Glasgow |
| ACTIVE | Oct 2017 |
| Outputs | I-DSD/CAH user group meeting, 2018, ESPE 2019. Manuscript in Preparation |
| Title | Optimizing mineralocorticoid replacement in patients with CAH |
| PI | Tomlinson |
| Institution | Oxford |
| Approved | June 2018 |
| Outputs | Pofi R et al J Clin Endocrinol Metab, 2019. |
| Title | Changes in surgical practice in CAH |
| PI | Springer |
| Institution | Medical University of Vienna |
| Approved | March 2017 |
| Outputs | DSDnet, Lubeck, Feb 2018, ESPE 2019. In Press, subject to revision |
| Title | Management of Fludrocortisone and salt therapy in 0-3 year old children with congenital adrenal hyperplasia (CAH) |
| PI | Claahsen-van der Grinten |
| Institution | Radboudumc Amalia Children’s Hospital, Charite University of Berlin |
| Approved | Jan 2016 |
| Outputs | ESPE 2017, I-DSD 2017, I-DSD/CAH user group meeting, 2018, ESPE 2019 |
