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
Title
Growth characteristics of patients with 21-OHD classic CAH in the I-CAH registry
PI
Farrar
Institution
Neurocrine Biosciences
Co-investigators
Federico Baronio, Bologna; Walter Bonfig, Munich; Hedi Claahsen-van der Grinten, Nijmegen; Nils Krone, Sheffield.
Approved
Feb 21
Outputs
Title
Mapping the development of the gonads one cell at a time
PI
Vento-Tormo
Institution
Wellcome Sanger Institute
Co-investigators
S. Faisal Ahmed, Glasgow; Martine Cools, Ghent; Sabine Hannema, Amsterdam; Anders Juul, Copenhagen, Angela Lucas-Herald, Glasgow
Approved
Feb 21
Outputs
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
Bacila et al Eur J Endocrinol, 2021
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
Title
Adverse Events in Congenital Adrenal Hyperplasia (CAH)
PI
Ali
Institution
University of Glasgow
Approved
Aug 2018
Outputs
Ali et al J Clin Endocrinol Metab 2021
Title
Cardiometabolic Morbidity In Adults With 21-Hydroxylase Deficiency CAH
PI
Righi
Institution
University of Bologna
Approved
Jan 2020
Outputs
Manuscript in preparation
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 under review
Title
Long term outcome of 46, XY Leydig Cell Hypoplasia (LCH) cases
PI
Boncompagni
Institution
University of Modena
Approved
Jan 2019
Outputs
Manuscript in preparation
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
Manuscript under review
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
Bacila et al Eur J Endocrinol, 2021
Title
Puberty in Females with PAIS
PI
Guaragna Filho
Institution
State University of Campinas
Approved
Sept 2017
Outputs
Manuscript in Preparation
Title
Trends in gonadectomy in DSD
PI
Lucas-Herald
Institution
University of Glasgow
ACTIVE
Oct 2017
Outputs
Manuscript under Review
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
Manuscript under Review
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
