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 currently active studies. Links for list of Completed studies and outputs from studies.

Title	Study ID 201808_SA Adverse Events in Children with Congenital Adrenal Hyperplasia (CAH)
PI	Salma Ali
Institution	University of Glasgow
Co-Is	Xanthippi Tseretopoulou, Jillian Bryce, Faisal Ahmed and the Participating centers
Approved	Aug 2018
Status	Collecting data for Round 2 (2019-2022) (continuous for benchmarking)
Outputs	Ali et al J Clin Endocrinol Metab 2021

Title	Study ID 202206_MO A prospective assessment of the practice of gonadectomy in people with a Difference of Sex Development at  specialist centres
PI	Michele O’Connell
Institution	The Royal Children’s Hospital Melbourne
Co-Is	Angela Lucas-Herald, S. Faisal Ahmed, Glasgow, Margarett Shnorhavorian, Seattle, Justin Davies, Southampton
Approved	June 2022
Status	Preparing to launch/recruiting

Title	Study ID 202203_NK Analysis of real-world data on the care provision of children with congenital adrenal hyperplasia in the United Kingdom
PI	Nils Krone
Institution	Sheffield Children’s Hospital
Co-Is	Irina Bacila, Neil Lawrence, Sheffield, S. Faisal Ahmed, Glasgow, Nadia Amin, Leeds, Joanne Blair, Liverpool, Timothy Cheetham, Newcastle, Elizabeth Crowne, Bristol, Mehul Dattani, Evelien Gevers, London, Justin H Davies, Southampton, Ruth Krone, Birmingham, Mars Skae, Manchester, Harriet Miles, Edinburgh, Anuja Natarajan, Doncaster, Tabitha Randell, Nottingham, Fiona Ryan, Oxford, Ajay Thankamony, Cambridge
Approved	March 2022
Status	Recruiting

Title	Study ID 202203_JD The clinical management of 21-hydroxylase deficiency CAH in early infancy
PI	Justin Davies
Institution	Southampton Children’s Hospital
Co-Is	David Lim, Southampton, Michele O’Connell, Melbourne, Faisal Ahmed, Salma Ali , Jillian Bryce, Glasgow, Navoda Atapattu, Colombo, Marion Rapp, Holstein, David Sandberg, Ann Arbor, Margarett Shnorhavorian, Seattle, Nils Krone, Sheffield
Approved	March 2022
Status	Preparing to launch/recruiting

Title	Study ID 202112_HT Prevalence, patterns, and characteristics of hypertension diagnosis and management in patients included in the International Turner Syndrome registry
PI	Helen Turner
Institution	Churchill Hospital, Oxford
Co-Is	M D Shani, A Dilrukshi, C G K Amiyangoda. Churchill hospital, Oxford. KJ Beck, University of Oxford
Approved	December 21
Status	Recruiting

Title	Study ID 202112_CB Oral Contraceptives In Female Adolescents With 21-Hydroxylase Deficiency (CAH) To Optimize Treatment With Respect To Androgen Excess: Effects On The Metabolome? A Prospective Observational Study
PI	Claudia Boettcher
Institution	Inselspital, University Children’s Hospital, Bern
Co-Is	Christa Flueck, Bern
Approved	December 21
Status	Recruiting

Title	Study ID 202112_JF Clinical and genetic characteristics of SRY-negative 46,XX testicular/ovotesticular DSD: results from an international registry-based study
PI	Junfen Fu
Institution	Zhejiang University School of Medicine, China
Co-Is	Hao Yang, Zhejiang
Approved	December 21
Status	Collecting data

Title	Study ID 202112_HC The earlysTART study – The association between hormonal control during infancy and early childhood and testicular adrenal rest tumour (TART) development in males with CAH
PI	Hedi Claahsen
Institution	Radboud University Medical Center
Co-Is	Mariska Schröder, Paul Span, Fred Sweep, Teun van Herwaarden, Bas Adriaansen, Nijmegen
Approved	December 21
Status	Collecting data

Title	Study ID 202112_ALH Predictors of surgical outcome in boys with hypospadias
PI	Angela Lucas-Herald
Institution	University of Glasgow
Co-Is	S. Faisal Ahmed, Kathryn Scougall, Stuart O’Toole, Glasgow
Approved	December 21
Status	Collecting data

Title	Study ID 202107_NL Blood pressure status and determinants in Congenital Adrenal Hyperplasia (CAH)
PI	Neil Lawrence
Institution	University of Sheffield, Sheffield Children’s Hospital
Co-Is	Nils Krone, Eleni Daniel, Irina Bacila, Sheffield; Jeremy Tomlinson, Oxford
Approved	July 21
Status	In analysis

Title	Study ID 202106_MC Assessment of bone age in individuals with sex chromosomal mosaicism
PI	Martine Cools
Institution	UZ Ghent
Co-Is	Jessica Bosmans, Ghent
Approved	June 21
Status	Collecting data/in analysis

Title	Study ID 202105_AT 46,XY Gonadal dysgenesis; diagnosis and long-term outcome
PI	Ajay Thankamony
Institution	Addenbrookes Hospital, Cambridge
Co-Is	Rieko Tadokoro-Cuccaro, Ieuan Hughes, Cambridge; Liz Hook, Andréa T. Maciel Guerra, Gil Guerra Junior, Juliana Gabriel Ribeiro de Andrade, Berenice Bilharinho de Mendonça, Sao Paulo; Angela Lucas-Herald, Glasgow; Sabine Hannema, Amsterdam; Martine Cools, Ghent; Anders Juul, Copenhagen
Approved	May 21
Status	In analysis

Title	Study ID 202105_HC The protective mechanisms in untreated CAH – The CAH-PROTECT study
PI	Hedi Claahsen
Institution	Radboud MC, Nijmegen
Co-Is	Bas Adriaansen, Teun v Herwaarden, Fred Sweep, Paul Span
Approved	May 21
Status	Collecting data

Title	Study ID 202008_NH Identification of co-regulators of the androgen receptor leading to AIS type II
PI	Nadine Hornig
Institution	University of Kiel
Co-Is	Paul-Martin Holterhus, Kiel
Approved	Aug 2020
Status	Collecting data

Title	Study ID 202001_SH Gonadal outcome in 17beta-HSD deficiency and 5alpha-reductase deficiency (GOBHAR study)
PI	Sabine Hannema
Institution	Amsterdam UMC
Co-Is
Approved	Jan 2020
Status	Collecting data

Title	Study ID 201810_GS SF1 next
PI	Grit Sommer
Institution	University of Bern
Co-Is	Christa Flueck, Bern
Approved	Dec 2018
Status	In analysis