Ongoing Studies

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 active studies. Output from completed studies can be found here.

Active studies

Title Gonadal outcome in 17beta-HSD deficiency and 5alpha-reductase deficiency (GOBHAR study)
PI Hannema
Institution Erasmus MC
ACTIVE Jan 2020
Title Cardiometabolic Morbidity In Adults With 21-Hydroxylase Deficiency CAH
PI Righi
Institution University of Bologna
ACTIVE Jan 2020
Title Testosterone replacement therapy in boys and young men in the I-DSD Registry
PI Stancampiano
Institution University of Milan
ACTIVE Feb 2019
Outputs Manuscript in Preparation
Title Long term outcome of 46, XY Leydig Cell Hypoplasia (LCH) cases
PI Boncompagni
Institution University of Modena
ACTIVE Jan 2019
Outputs ESPE 2019, Manuscript submitted
Title SF1 next
PI Sommer
Institution University of Bern
ACTIVE 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
ACTIVE Sept 2019
Title Adverse Events in Congenital Adrenal Hyperplasia (CAH)
PI Ali
Institution University of Glasgow
ACTIVE Aug 2018
Outputs APAM 2019, I-DSD 2019, ESPE 2019. Manuscript in Preparation
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 & extended Jan 2019
Outputs ESPE 2017, ESPE 2019, Manuscript in Preparation

Recently Completed Studies

Title Cardiovascular pathology in patients with 45,X/46,XY (or variant) karyotypes.
PI DeGroote
Institution UZ Ghent
ACTIVE 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
ACTIVE Oct 2017
Outputs ESPE 2019
Title Puberty in Females with PAIS
PI Guaragna Filho
Institution State University of Campinas
ACTIVE 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
ACTIVE 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
ACTIVE 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
ACTIVE Jan 2016
Outputs ESPE 2017, I-DSD 2017, I-DSD/CAH user group meeting, 2018, ESPE 2019