Ongoing Studies

The I-DSD/I-CAH/I-TS Registry is a central resource for research studies in DSD/CAH/TS.  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

TitleGrowth characteristics of patients with 21-OHD classic CAH in the I-CAH registry
PIFarrar
InstitutionNeurocrine Biosciences
Co-investigatorsFederico Baronio, Bologna; Walter Bonfig, Munich; Hedi Claahsen-van der Grinten, Nijmegen; Nils Krone, Sheffield.
ApprovedFeb 21
Outputs
TitleMapping the development of the gonads one cell at a time
PIVento-Tormo
InstitutionWellcome Sanger Institute
Co-investigatorsS. Faisal Ahmed, Glasgow; Martine Cools, Ghent; Sabine Hannema, Amsterdam; Anders Juul, Copenhagen, Angela Lucas-Herald, Glasgow
ApprovedFeb 21
Outputs
TitleA Survey On The Management Of Adrenal Insufficiency Related Adverse Events In Children
PIAli
InstitutionUniversity of Glasgow
ApprovedAug 2020
Outputs 
TitleThe Management & Consequences Of Gynaecomastia In Partial Androgen Insensitivity Syndrome
PIPatjamontri
InstitutionUniversity of Glasgow
ApprovedAug 2020
Outputs 
TitleIdentification of co-regulators of the androgen receptor leading to AIS type II
PIHornig
InstitutionUniversity of Kiel
ApprovedAug 2020
Outputs 
TitleSerum Anti-Müllerian Hormone In The Prediction Of Response To hCG Stimulation In Children With PAIS: an I-DSD Registry Cohort Study
PILucas-Herald
InstitutionUniversity of Glasgow
ApprovedAug 2020
Outputs 
TitleA 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
PIAhmed
InstitutionUniversity of Glasgow/Acerus
ApprovedAug 2020
Outputs 
TitleQuality assessment of the I-DSD and I-CAH Registries
PILucas-Herald
InstitutionUniversity of Glasgow
ApprovedJune 2020
Outputs 
TitleGlobal approach to monitoring Congenital Adrenal Hyperplasia (CAH) in children
PIBacila
InstitutionUniversity of Sheffield
ApprovedMay 2020
Outputs Bacila et al  Eur J Endocrinol, 2021
TitleGonadal outcome in 17beta-HSD deficiency and 5alpha-reductase deficiency (GOBHAR study)
PIHannema
InstitutionErasmus MC
ApprovedJan 2020
Outputs 
TitleSF1 next
PISommer
InstitutionUniversity of Bern
ApprovedDec 2018
OutputsI-DSD 2019, SSED 2019
TitleClinical care and outcomes in rare forms of congenital adrenal hyperplasia: analysis of data available within the International-CAH Registry
PIBacila
InstitutionUniversity of Sheffield
ApprovedSept 2019
  
TitleAdverse Events in Congenital Adrenal Hyperplasia (CAH)
PIAli
InstitutionUniversity of Glasgow
ApprovedAug 2018
OutputsAli et al J Clin Endocrinol Metab 2021
TitleCardiometabolic Morbidity In Adults With 21-Hydroxylase Deficiency CAH
PIRighi
InstitutionUniversity of Bologna
ApprovedJan 2020
OutputsManuscript in preparation

Recently Completed Studies

TitleTestosterone replacement therapy in boys and young men in the I-DSD Registry
PIStancampiano
InstitutionUniversity of Milan
ApprovedFeb 2019
OutputsManuscript under review
TitleLong term outcome of 46, XY Leydig Cell Hypoplasia (LCH) cases
PIBoncompagni
InstitutionUniversity of Modena
ApprovedJan 2019
OutputsManuscript in preparation
TitleCardiovascular pathology in patients with 45,X/46,XY (or variant) karyotypes.
PIDeGroote
InstitutionUZ Ghent
ApprovedFeb 2018
OutputsESPE 2018
TitleGrowth and pubertal course in 46,XY SGA boys born with atypical genitalia of unknown origin
PITack
InstitutionUZ Ghent
ApprovedOct 2017
OutputsManuscript under review
TitleDefining the dose, type and timing of glucocorticoid treatment in children and adults with Congenital Adrenal Hyperplasia (CAH)
PIBacila
InstitutionSheffield Children’s NHS Foundation Trust, University of Sheffield
ACTIVEOct 2016 & restarted May 2019
OutputsBacila et al  Eur J Endocrinol, 2021
TitlePuberty in Females with PAIS
PIGuaragna Filho
InstitutionState University of Campinas
ApprovedSept 2017
OutputsManuscript in Preparation
TitleTrends in gonadectomy in DSD
PILucas-Herald
InstitutionUniversity of Glasgow
ACTIVEOct 2017
OutputsManuscript under Review
TitleOptimizing mineralocorticoid replacement in patients with CAH
PITomlinson
InstitutionOxford
ApprovedJune 2018
OutputsPofi R et al  J Clin Endocrinol Metab, 2019.
TitleChanges in surgical practice in CAH
PISpringer
InstitutionMedical University of Vienna
ApprovedMarch 2017
Outputs Manuscript under Review
TitleManagement of Fludrocortisone and salt therapy in 0-3 year old children with congenital adrenal hyperplasia (CAH) 
PIClaahsen-van der Grinten
InstitutionRadboudumc Amalia Children’s Hospital, Charite University of Berlin
ApprovedJan 2016
Outputs Manuscript under Review