Completed Studies

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 completed studies and the outputs from studies can be found here.

Title[Study ID 202005_IB]
Global approach to monitoring Congenital Adrenal Hyperplasia (CAH) in children
PINeil Lawrence
InstitutionUniversity of Sheffield
Co-IsIrina Bacila, Nils Krone, Sheffield
ApprovedMay 2020
StatusComplete
OutputsLawrence et al, Clin Endocrinol 2022
Title[Study ID 202006_ALH]
Quality assessment of the I-DSD and I-CAH Registries
PIAngela Lucas-Herald
InstitutionUniversity of Glasgow
Co-IsCraig McMillan, Jillian Bryce, Salma Ali, Martin McMillan, S. Faisal Ahmed, Glasgow
ApprovedJune 2020
StatusComplete
Title[Study ID 202008_ALH]
Serum Anti-Müllerian Hormone In The Prediction Of Response To hCG Stimulation In Children With PAIS: an I-DSD Registry Cohort Study
PIAngela Lucas-Herald
InstitutionUniversity of Glasgow
Co-IsFaisal Ahmed, Glasgow
ApprovedAug 2020
StatusComplete
Title[Study ID 202008_SP]
The Management & Consequences Of Gynaecomastia In Partial Androgen Insensitivity Syndrome
PISupitcha Patjamontri
InstitutionUniversity of Glasgow
Co-IsS. Faisal Ahmed, Angela Lucas-Herald, Glasgow;
Anders Juul, Copenhagen; Sumudu Nimali Seneviratne, Colombo; Paul Hoffman, Auckland; Olaf Hiort, Lübeck
ApprovedAug 2020
StatusComplete
Title[Study ID 202102_MF]
Growth characteristics of patients with 21-OHD classic CAH in the I-CAH registry
PIMallory Farrar
InstitutionNeurocrine Biosciences
Co-IsFederico Baronio, Bologna; Walter Bonfig, Munich; Hedi Claahsen-van der Grinten, Nijmegen; Nils Krone, Sheffield, Faisal Ahmed, Glasgow
ApprovedFeb 21
StatusComplete
TitleA Survey On The Management Of Adrenal Insufficiency Related Adverse Events In Children [Study ID 202008_SA]
PISalma Ali
InstitutionUniversity of Glasgow
Co-IsNils P. Krone, Sheffield; Hedi L. Claahsen-van der Grinten, Nijmegen; S. Faisal Ahmed, Jillian Bryce, Glasgow
ApprovedAug 2020
Statuscomplete
OutputsAli et al, Hormone Res in Paeds 2022
TitleCardiometabolic Morbidity In Adults With 21-Hydroxylase Deficiency CAH [Study ID 201911_BR]
PIBeatrice Righi
InstitutionUniversity of Bologna
Co-IsFaisal Ahmed, Salma Ali, Glasgow; Richard Ross, Sheffield; Richard Auchus, Ann-Arbor
ApprovedJan 2020
Statuscomplete
OutputsManuscript in review
Raw dataavailable
TitleTestosterone replacement therapy in boys and young men in the I-DSD Registry [Study ID 201902_MS]
PIMarianna Stancampiano
InstitutionUniversity of Milan
ApprovedFeb 2019
Statuscomplete
OutputsStancampiano et al, Sexual Development 2021
Raw dataavailable
TitleLong term outcome of 46, XY Leydig Cell Hypoplasia (LCH) cases [Study ID 201901_AB]
PIAlessandra Boncompagni
InstitutionUniversity of Modena
ApprovedJan 2019
Statuscomplete
OutputsManuscript in preparation
Raw dataavailable
TitleCardiovascular pathology in patients with 45,X/46,XY (or variant) karyotypes. [Study ID 201802_KD]
PIKatja DeGroote
InstitutionUZ Ghent
ApprovedFeb 2018
Statuscomplete
OutputsESPE 2018
Raw dataavailable
TitleGrowth and pubertal course in 46,XY SGA boys born with atypical genitalia of unknown origin [Study ID 201710_LT]
PILloyd Tack
InstitutionUZ Ghent
ApprovedOct 2017
Statuscomplete
OutputsTack et al, Clin Endo 2022
Raw dataavailable
TitleInternational practice of corticosteroid replacement therapy in congenital adrenal hyperplasia – data from the I-CAH registry [Study ID 201610_NK]
PIIrina Bacila
InstitutionSheffield Children’s NHS Foundation Trust, University of Sheffield
ACTIVEOct 2016 & restarted May 2019
Statuscomplete
OutputsBacila et al, Eur J Endocrinol, 2021
Raw dataavailable
TitlePuberty in Females with PAIS [Study ID 201402_GGF]
PIGuilherme Guaragna Filho
InstitutionState University of Campinas
ApprovedSept 2017
Statuscomplete
OutputsManuscript in review Sexual Development
Raw dataavailable
TitleTrends in gonadectomy in DSD [Study ID 201710_ALH]
PIAngela Lucas-Herald
InstitutionUniversity of Glasgow
ActiveOct 2017
Statuscomplete
OutputsLucas-Herald et al, EJE Mar 2021
Raw dataavailable
TitleOptimizing mineralocorticoid replacement in patients with CAH [Study ID 201806_JT]
PIJeremy Tomlinson
InstitutionOxford
ApprovedJune 2018
Statuscomplete
OutputsPofi R et al, J Clin Endocrinol Metab, 2020
Raw dataavailable
TitleChanges in surgical practice in CAH [Study ID 201703_AS]
PIAlex Springer
InstitutionMedical University of Vienna
ApprovedMarch 2017
Statuscomplete
Outputs Hebenstreit et al, Sexual Development 2021
Raw dataavailable
TitleManagement of Fludrocortisone and salt therapy in 0-3 year old children with congenital adrenal hyperplasia (CAH) [Study ID 201511_HCVDG]
PIClaahsen-van der Grinten
InstitutionRadboudumc Amalia Children’s Hospital, Charite University of Berlin
ApprovedJan 2016
Statuscomplete
Outputs Neumann et al, EJE 186, May 2022
Raw dataavailable