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

TitleBlood pressure status and determinants in Congenital Adrenal Hyperplasia (CAH) [Study ID 202107_NL]
PINeil Lawrence
InstitutionUniversity of Sheffield, Sheffield Children’s Hospital
Co-IsNils Krone, Eleni Daniel, Irina Bacila, Sheffield; Jeremy Tomlinson, Oxford
ApprovedJuly 21
Recruitingopen
TitleAssessment of bone age in individuals with sex chromosomal mosaicism [Study ID 202106_MC]
PIMartine Cools
InstitutionUZ Ghent
Co-IsJessica Bosmans, Ghent
ApprovedJune 21
Recruitingopen
Title46,XY Gonadal dysgenesis; diagnosis and long-term outcome [Study ID 202105_AT]
PIAjay Thankamony
InstitutionAddenbrookes Hospital, Cambridge
Co-IsRieko 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
ApprovedMay 21
Recruitingopen
TitleThe protective mechanisms in untreated CAH – The CAH-PROTECT study [Study ID 202105_HC]
PIHedi Claahsen
InstitutionRadboud MC, Nijmegen
Co-IsBas Adriaansen, Teun v Herwaarden, Fred Sweep, Paul Span
ApprovedMay 21
Recruitingopen
TitleGrowth characteristics of patients with 21-OHD classic CAH in the I-CAH registry [Study ID 202102_MF]
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
Recruitingopen
TitleMapping the development of the gonads one cell at a time [Study ID 202102_RVT]
PIRoser Vento-Tormo
InstitutionWellcome Sanger Institute, Cambridge
Co-IsFaisal Ahmed, Angela Lucas-Herald, Glasgow; Martine Cools, Ghent; Sabine Hannema, Amsterdam; Anders Juul, Copenhagen
ApprovedFeb 21
Recruitingopen
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
Recruitingclosed
TitleThe Management & Consequences Of Gynaecomastia In Partial Androgen Insensitivity Syndrome [Study ID 202008_SP]
PISupitcha Patjamontri
InstitutionUniversity of Glasgow
Co-IsSyed Faisal Ahmed, Angela Lucas-Herald, Glasgow;
Anders Juul, Copenhagen; Sumudu Nimali Seneviratne, Colombo; Paul Hoffman, Auckland; Olaf Hiort, Lübeck
ApprovedAug 2020
Recruitingopen
TitleIdentification of co-regulators of the androgen receptor leading to AIS type II [Study ID 202008_NH]
PINadine Hornig
InstitutionUniversity of Kiel
Co-IsPaul-Martin Holterhus, Kiel
ApprovedAug 2020
Recruitingopen
TitleSerum 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]
PIAngela Lucas-Herald
InstitutionUniversity of Glasgow
Co-IsFaisal Ahmed, Glasgow
ApprovedAug 2020
Recruitingopen
TitleQuality assessment of the I-DSD and I-CAH Registries [Study ID 202006_ALH]
PIAngela Lucas-Herald
InstitutionUniversity of Glasgow
Co-IsCraig McMillan, Jillian Bryce, Salma Ali, Martin McMillan, S. Faisal Ahmed, Glasgow
ApprovedJune 2020
TitleGlobal approach to monitoring Congenital Adrenal Hyperplasia (CAH) in children [Study ID 202005_IB]
PINeil Lawrence
InstitutionUniversity of Sheffield
Co-IsIrina Bacila, Nils Krone, Sheffield
ApprovedMay 2020
Recruitingopen
TitleGonadal outcome in 17beta-HSD deficiency and 5alpha-reductase deficiency (GOBHAR study) [Study ID 202001_SH]
PISabine Hannema
InstitutionErasmus MC
Co-Is
ApprovedJan 2020
Recruitingopen
TitleSF1 next [Study ID 201810_GS]
PIGrit Sommer
InstitutionUniversity of Bern
Co-IsChrista Flueck, Bern
ApprovedDec 2018
Recruitingopen
TitleClinical care and outcomes in rare forms of congenital adrenal hyperplasia: analysis of data available within the International-CAH Registry [Study ID 201909_IB]
PIIrina Bacila
InstitutionUniversity of Sheffield
Co-IsNils Krone, Sheffield
ApprovedSept 2019
Recruitingopen
TitleAdverse Events in Congenital Adrenal Hyperplasia (CAH) [Study ID 201808_SA]
PISalma Ali
InstitutionUniversity of Glasgow
Co-IsRichard Ross, Eleni Daniel, Maulee Arambewela, Sheffield
ApprovedAug 2018
Recruitingopen
OutputsAli et al J Clin Endocrinol Metab 2021
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
Recruitingclosed
OutputsManuscript in preparation
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
Recruitingclosed
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
Recruitingclosed
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
Recruitingclosed
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
Recruitingclosed
OutputsManuscript submitted Clin Endo Jun 21
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
Recruitingclosed
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
Recruitingclosed
OutputsManuscript submitted Endocrine May 2021
Raw dataavailable
TitleTrends in gonadectomy in DSD [Study ID 201710_ALH]
PIAngela Lucas-Herald
InstitutionUniversity of Glasgow
ActiveOct 2017
Recruitingclosed
OutputsLucas-Herald et al, EJE Mar 2021
Raw dataavailable
TitleOptimizing mineralocorticoid replacement in patients with CAH [Study ID 201806_JT]
PIRichard Tomlinson
InstitutionOxford
ApprovedJune 2018
Recruitingclosed
OutputsPofi R et al  J Clin Endocrinol Metab, 2019.
Raw dataavailable
TitleChanges in surgical practice in CAH [Study ID 201703_AS]
PIAlex Springer
InstitutionMedical University of Vienna
ApprovedMarch 2017
Recruitingclosed
Outputs Sexual Development In Press
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
Recruitingclosed
Outputs Manuscript in preparation
Raw dataavailable