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 202206_MO]
A prospective assessment of the practice of gonadectomy in people with a Difference of Sex Development at  specialist centres  
PIMichele O’Connell
InstitutionThe Royal Children’s Hospital Melbourne
Co-IsAngela Lucas-Herald, S. Faisal Ahmed, Glasgow, Margarett Shnorhavorian, Seattle, Justin Davies, Southampton
ApprovedJune 2022
Recruitingopen
Title[Study ID 202203_NK]
Analysis of real-world data on the care provision of children with congenital adrenal hyperplasia in the United Kingdom
PINils Krone
InstitutionSheffield Children’s Hospital
Co-IsIrina 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
ApprovedMarch 2022
Recruitingopen

Title[Study ID 202203_JD]
The clinical management of 21-hydroxylase deficiency CAH in early infancy
PIJustin Davies
InstitutionSouthampton Children’s Hospital
Co-IsDavid 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
ApprovedMarch 2022
Recruitingopen
Title[Study ID 202112_HT]
Prevalence, patterns, and characteristics of hypertension diagnosis and management in patients included in the International Turner Syndrome registry
PIHelen Turner
InstitutionChurchill Hospital, Oxford
Co-IsM D Shani, A Dilrukshi, C G K Amiyangoda. Churchill hospital, Oxford. KJ Beck, University of Oxford
ApprovedDecember 21
Recruitingopen
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
PIClaudia Boettcher
InstitutionInselspital, University Children’s Hospital, Bern
Co-IsChrista Flueck, Bern
ApprovedDecember 21
Recruitingopen
Title[Study ID 202112_JF]
Clinical and genetic characteristics of SRY-negative 46,XX testicular/ovotesticular DSD: results from an international registry-based study
PIJunfen Fu
InstitutionZhejiang University School of Medicine, China
Co-IsHao Yang, Zhejiang
ApprovedDecember 21
Recruitingopen
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
PIHedi Claahsen
InstitutionRadboud University Medical Center
Co-IsMariska Schröder, Paul Span, Fred Sweep, Teun van Herwaarden, Bas Adriaansen, Nijmegen
ApprovedDecember 21
Recruitingopen
Title[Study ID 202112_ALH]
Predictors of surgical outcome in boys with hypospadias
PIAngela Lucas-Herald
InstitutionUniversity of Glasgow
Co-IsS. Faisal Ahmed, Kathryn Scougall, Stuart O’Toole, Glasgow
ApprovedDecember 21
Recruitingopen
Title[Study ID 202107_NL]
Blood pressure status and determinants in Congenital Adrenal Hyperplasia (CAH)
PINeil Lawrence
InstitutionUniversity of Sheffield, Sheffield Children’s Hospital
Co-IsNils Krone, Eleni Daniel, Irina Bacila, Sheffield; Jeremy Tomlinson, Oxford
ApprovedJuly 21
Recruitingopen
Title[Study ID 202106_MC]
Assessment of bone age in individuals with sex chromosomal mosaicism
PIMartine Cools
InstitutionUZ Ghent
Co-IsJessica Bosmans, Ghent
ApprovedJune 21
Recruitingopen
Title[Study ID 202105_AT]
46,XY Gonadal dysgenesis; diagnosis and long-term outcome
PIAjay Thankamony
InstitutionAddenbrookes Hospital, Cambridge
Co-IsRieko 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
ApprovedMay 21
Recruitingopen
Title[Study ID 202105_HC]
The protective mechanisms in untreated CAH – The CAH-PROTECT study
PIHedi Claahsen
InstitutionRadboud MC, Nijmegen
Co-IsBas Adriaansen, Teun v Herwaarden, Fred Sweep, Paul Span
ApprovedMay 21
Recruitingopen
Title[Study ID 202102_MF]
Growth characteristics of patients with 21-OHD classic CAH in the I-CAH registry
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
Title[Study ID 202008_SP]
The Management & Consequences Of Gynaecomastia In Partial Androgen Insensitivity Syndrome
PISupitcha Patjamontri
InstitutionUniversity of Glasgow
Co-IsS. Faisal Ahmed, Angela Lucas-Herald, Glasgow;
Anders Juul, Copenhagen; Sumudu Nimali Seneviratne, Colombo; Paul Hoffman, Auckland; Olaf Hiort, Lübeck
ApprovedAug 2020
Recruitingopen
Title[Study ID 202008_NH]
Identification of co-regulators of the androgen receptor leading to AIS type II
PINadine Hornig
InstitutionUniversity of Kiel
Co-IsPaul-Martin Holterhus, Kiel
ApprovedAug 2020
Recruitingopen
Title[Study ID 202008_ALH]
Serum Anti-Müllerian Hormone In The Prediction Of Response To hCG Stimulation In Children With PAIS: an I-DSD Registry Cohort Study
PIAngela Lucas-Herald
InstitutionUniversity of Glasgow
Co-IsFaisal Ahmed, Glasgow
ApprovedAug 2020
Recruitingopen
Title[Study ID 202006_ALH]
Quality assessment of the I-DSD and I-CAH Registries
PIAngela Lucas-Herald
InstitutionUniversity of Glasgow
Co-IsCraig McMillan, Jillian Bryce, Salma Ali, Martin McMillan, S. Faisal Ahmed, Glasgow
ApprovedJune 2020
Title[Study ID 202005_IB]
Global approach to monitoring Congenital Adrenal Hyperplasia (CAH) in children
PINeil Lawrence
InstitutionUniversity of Sheffield
Co-IsIrina Bacila, Nils Krone, Sheffield
ApprovedMay 2020
Recruitingopen
Title[Study ID 202001_SH]
Gonadal outcome in 17beta-HSD deficiency and 5alpha-reductase deficiency (GOBHAR study)
PISabine Hannema
InstitutionErasmus MC
Co-Is
ApprovedJan 2020
Recruitingopen
Title[Study ID 201810_GS]
SF1 next
PIGrit Sommer
InstitutionUniversity of Bern
Co-IsChrista Flueck, Bern
ApprovedDec 2018
Recruitingopen
Title[Study ID 201909_IB]
Clinical care and outcomes in rare forms of congenital adrenal hyperplasia: analysis of data available within the International-CAH Registry
PIIrina Bacila
InstitutionUniversity of Sheffield
Co-IsNils Krone, Sheffield
ApprovedSept 2019
Recruitingopen
Title[Study ID 201808_SA]
Adverse Events in Children with Congenital Adrenal Hyperplasia (CAH)
PISalma Ali
InstitutionUniversity of Glasgow
Co-IsRichard Ross, Eleni Daniel, Maulee Arambewela, Sheffield
ApprovedAug 2018
Recruitingopen
OutputsAli et al J Clin Endocrinol Metab 2021