Research Studies

Research Studies

The I-DSD/I-CAH Registry is a central resource in research studies in DSD and CAH.  The registry supports both primary and secondary research.  Below is a list of active and recently completed studies with links to dissemination activities and publications.

 

Active studies

Adverse Events in Congenital Adrenal Hyperplasia (Ali, Aug 2018)

 

Yr 2018
Study ID 201808_SA
PI Ali
Institution Univ of Glasgow
Title Adverse Events in Congenital Adrenal Hyperplasia (CAH
Dissemination Events  
Publications Acknowledging I-DSD Support  
ACTIVE August 2018
Lay Summary

We will use data from the I-CAH registry to gather information about how often patients with CAH are having sick day episodes and try to identify what factors may influence these episodes

 

We will use data from the I-CAH registry to gather information about how often patients with CAH are having sick day episodes and try to identify what factors may influence these episodes

Optimizing mineralocorticoid replacement in patients with CAH (Tomlinson June 2018)

 

Yr 2018
Study ID 201806_JT
PI Tomlinson
Institution Oxford Churchill Hospital
Title

Optimizing mineralocorticoid replacement in patients with CAH

Dissemination Events  

Publications Acknowledging
I-DSD Support

 
ACTIVE June 2018
Lay Summary We will use the data gathered from the i-CAH registry to identify which are the most useful clinical measures to determine if patients are on the most appropriate dose of fludrocortisone replacement therapy.

Cardiovascular pathology in patients with 45,X/46,XY (DeGroote, Feb 2018)

 

Yr 2018
Study ID 201802_KD
PI Tack
Institution UZ Ghent
Title Cardiovascular pathology in patients with 45,X/46,XY (or variant) karyotypes.
Dissemination Events  

Publications Acknowledging
I-DSD Support

 
ACTIVE Feb 2018
Lay Summary We aim to document the type of cardiovascular screening that is commonly performed in individuals with 45,X/46,XY karyotypes in Europe and investigate if pathology of the heart and vessels in males and females who have 45,X/46,XY is similar and if cardiovascular findings are related to the genital phenotype.

Growth and pubertal course in 46,XY SGA boys (Tack, Oct 2017)

 

Yr 2017
Study ID 201710_LT
PI Tack, Cools 
Institution UZ Ghent
Title Growth and pubertal course in 46,XY SGA boys born with atypical genitalia of unknown origin
Dissemination Events  

Publications Acknowledging
I-DSD Support

 
ACTIVE Oct 2017
Lay Summary This study aims to investigate if boys who had low birth weight and genital atypicalities, experience problems with height and weight gain during childhood and/or with entering puberty. This will help counselling of parents and affected boys and improve patient care in the future.

Trends in gonadectomy in DSD (Lucas-Herald, Oct 2017)

 

Yr 2017
Study ID 201710_ALH
PI Lucas-Herald
Institution University of Glasgow
Title Trends in gonadectomy in DSD
Dissemination Events  

Publications Acknowledging
I-DSD Support

 
ACTIVE Oct 2017
Lay Summary  

Puberty in Females with PAIS (Guaragna Filho Sept 2017)

 

Yr 2017
Study ID 201709_GGF
PI Guaragna Filho
Institution State University of Campinas
Title Puberty in Females with PAIS
Dissemination Events  

Publications Acknowledging
I-DSD Support

 
ACTIVE Sept 2017
Lay Summary Follow up of study 201402_GGF - Disorders of sex development (DSD) include a large group of conditions whose primary manifestation is atypical development of the external genitalia. One concern that arises in clinical care of individuals with DSDs, especially those which gonads remain in situ, is the nature of their pubertal development, particularly whether this will be consistent with, or divergent from, the gender of rearing.  In the case of the partial androgen insensitivity syndrome (PAIS), little information is available in literature. The aim of this project is to assess the timing and nature of pubertal development in individuals with PAIS reared as female.

Defining new genetic etiologies for syndromic DSD (McElreavey, June 2017)

 

Yr 2017
Study ID 201706_KM
PI McElreavey
Institution Institut Pasteur
Title Defining new genetic etiologies for syndromic DSD
Dissemination Events  

Publications Acknowledging
I-DSD Support

 
ACTIVE June 2017
Lay Summary The aim of the project is to perform a genomic analysis on rare syndromic forms of DSD to understand the genetic mechanisms involved. This will open other avenues of research to understand more common forms of DSD, improve diagnosis and develop knowledge-based management.

Outcome in 46,XY boys (Lucas-Herald June 2017)

 

Yr 2017
Study ID 201706_ALH
PI Lucas-Herald
Institution University of Glasgow
Title Outcome in 46,XY boys
Dissemination Events  

Publications Acknowledging
I-DSD Support

 
ACTIVE June 2017
Lay Summary Using the generic longitudinal modules created by the DSD team in Ghent, we will ask for information regarding 46,XY DSD boys which can then be uploaded onto the Registry at a later date, as well as being used to provide information regarding outcomes for affected boys.

Changes in surgical practice in CAH (Springer, Mar 2017)

 

Yr 2017
Study ID 201703_AS
PI Springer
Institution Medical University of Vienna
Title Changes in surgical practice in CAH
Dissemination Events Oral at DSDnet 2018
Publications Acknowledging I-DSD Support  
ACTIVE March 2017
Further Information CAH is the most common DSD condition with the majority of patients being assigned female after birth. The traditional approach was to do early feminizing surgery. Today, this policy is challenged. The objective of this study is to evaluate changes in CAH related surgical practice over time. 

Identification of co-regulators of the androgen receptor leading to AIS type II (Hornig, Oct 2016)

 

Yr 2016
Study ID 201610_NH
PI Hornig
Institution Christian-Albrechts-University Kiel & University Hosp Schleswig-Holstein, Campus Kiel
Title Identification of co-regulators of the androgen receptor leading to AIS type II
Dissemination Events  
Publications Acknowledging I-DSD Support  
ACTIVE October 2016
Lay Summary Follow up of study 201606_MKPMH - Finding explanations for the clinical diagnosis AIS where mutations in the androgen receptor gene are absent.

Defining the dose, type and timing of glucocorticoid treatment in children and adults with Congenital Adrenal Hyperplasia (Krone, Oct 2016)

 

Yr 2016
Study ID 201610_NK
PI Krone
Institution Sheffield Children’s NHS Foundation Trust, University of Sheffield
Title Defining the dose, type and timing of glucocorticoid treatment in children and adults with Congenital Adrenal Hyperplasia (CAH)
Dissemination Events  
Publications Acknowledging I-DSD Support  
ACTIVE October 2016
Lay Summary Patients with congenital adrenal hyperplasia require life-long glucocorticoid replacement. There is, however, an ongoing debate amongst clinicians about type, timing and dose of used glucocorticoid. Thus, we want to establish current practice of CAH management. This evidence will be used to develop uniform recommendations towards more physiological replacement therapy.

A Web-Based Platform For Patient Reported Outcome Research In CAH (PRO-CAH) (Ali, Aug 2016)

 

Yr 2016
Study ID 201606_SA
PI Ali
Institution Univ of Glasgow
Title A Web-Based Platform For Patient Reported Outcome Research In CAH (PRO-CAH) 
Dissemination Events CAH user group meeting, ESPE 2016
Publications Acknowledging I-DSD Support  
ACTIVE June 2016
Lay Summary

PRO-CAH is an collaboration of users of the I-CAH registry to monitor patient reported outcome with an overall aim to improve the clinical care and increase research activities in the field of CAH.
This will be achieved by developing and maintaining an international network of clinicians looking after people with CAH – the CAH User Group. As well as reporting to the user group at regular intervals, a key objective is to develop a new module to assess the quality of life and patient reported outcomes of people with CAH.


Management of Fludrocortisone and salt therapy in 0-3 year old children with (CAH) (Claahsen-van der Grinten, Nov 2015)

 

Yr 2015
Study ID 201511_HCVDG
PI Claahsen-van der Grinten
Institution Radboudumc Amalia Children’s Hospital
Title Management of Fludrocortisone and salt therapy in 0-3 year old children with congenital adrenal hyperplasia (CAH) 
Dissemination Events  Oral at I-DSD 2017, Poster at ESPE 2017, planned guideline
Publications Acknowledging I-DSD Support  
ACTIVE Jan 2016
Lay Summary Nowadays nearly all neonates with classic forms of congenital adrenal hyperplasia (CAH) are detected within the neonatal screening program before severe salt wasting crisis can occur. It is generally accepted that all infants with classic CAH are treated with hydrocortisone as well as fludrocortisone at diagnosis in the newborn period. However, there are no evidence based guidelines how to treat young infants especially with respect to  salt and mineralocorticoid treatment. 

Evaluation of Puberty in Females with Partial Androgen Insensitivity Syndrome (Guaragna-Filho Dec 2014)

 

Yr 2014
Study ID 201402_GGF
PI Guaragna-Filho
Institution

State University of Campinas Brazil

Title Evaluation of Puberty in Females with Partial Androgen Insensitivity Syndrome (PAIS)
Dissemination Events Poster at I-DSD (2015) & GPRD 2015
Publications Acknowledging I-DSD Support manuscript in preparation
ACTIVE Feb 2014
Lay Summary Disorders of sex development (DSD) include a large group of conditions whose primary manifestation is atypical development of the external genitalia. One concern that arises in clinical care of individuals with DSDs, especially those which gonads remain in situ, is the nature of their pubertal development, particularly whether this will be consistent with, or divergent from, the gender of rearing.  In the case of the partial androgen insensitivity syndrome (PAIS), little information is available in literature. The aim of this project is to assess the timing and nature of pubertal development in individuals with PAIS reared as female.

Completed studies

Clinical features and Genetics of Human Disorders of Sexual Development (Markosyan Jun 2016)

 

Yr 2016
Study ID 201606_RM
PI Markosyan
Institution Yerevan State Medical University
Title Clinical features and Genetics of Human Disorders of Sexual Development
Dissemination Events Poster at I-DSD 2017
Publications Acknowledging I-DSD Support Publication in J Clin Res Ped Endo
ACTIVE Jun 2016
Lay Summary

We expect the research in this proposal to open up new avenues for the study of unresolved cases of patients with DSD. Furthermore, our approach will provide unparalleled insights into the genetic pathways underlying DSD and trigger the development of diagnostic measures for affected patients which may lead to novel therapeutic approaches.


Survey of psychosocial care (Dessens Sep 2015)

 

Yr 2015
Study ID 201509_AD
PI Dessens
Institution Erasmus MC
Title Survey of psychosocial care
Dissemination Events Presentations at DSDnet 2017, 2018 and I-DSD 2017
Publications Acknowledging I-DSD Support Publication in BMJ peds
ACTIVE Sep 2015
Lay Summary The purpose of the current survey is to understand the clinical and professional development needs of all those professionals in psychosocial care (such as social workers, specialised nurses, psychologists and psychiatrists) who are involved in managing infant, child, adolescent and adult with DSD. We are also keen to identify areas of research and service

A New International Registry Highlights The Differences In Practice For Reaching A Diagnosis Of CAH (Kourime Jun 2016)

 

Yr 2016
Study ID 201606_MK1
PI Kourime
Institution University of Glasgow
Title A New International Registry Highlights The Differences In Practice For Reaching A Diagnosis Of CAH
Dissemination Events Poster at ESPE
Publications Acknowledging I-DSD Support  
ACTIVE Jun 2016
Lay Summary

After the creation of the international CAH Registry in October2014, using the same platform as the IDSD Registry, there has been a quick adoption of this new registry demonstrating the user acceptability. The study revealed also the temporal shift in diagnosis practice in CAH towards the use of molecular genetics.
URL link to study details or source of further information (e.g. the research group website)


Phenotypic predictors of AR mutation in suspected PAIS (Kourime Jun 2016)

 

Yr 2016
Study ID 201606_MK
PI Kourime
Institution University of Glasgow
Title Phenotypic predictors of AR mutation in suspected PAIS
Dissemination Events Poster at ESPE
Publications Acknowledging I-DSD Support  
ACTIVE Jun 2016
Lay Summary

Precursor to study 201610_NHPMH - The PAIS like phenotype includes a wide spectrum of patients with under masculinised genitalia in whom other diagnosis have been ruled out (defect in androgen synthesis, gonadal dysgenesis). However, only 20% of these patients have a positive mutation in AR confirming PAIS.
This study aims to identify predictors of positive AR mutation by assessing the clinical and biochemical features of patients with suspected PAIS in the IDSD Registry, in relation to the results of AR analysis.


Using The I-DSD and I-CAH Registries As A Model For Assessing The Quality Of Rare Disease Registries (Kourime Sep 2016)

 

Yr 2016
Study ID 201606_MK
PI Kourime
Institution University of Glasgow
Title Using The I-DSD and I-CAH Registries As A Model For Assessing The Quality Of Rare Disease Registries 
Dissemination Events Poster at ENDO 2017 & ESPE 2016
Publications Acknowledging I-DSD Support Paper published in Orphanet Journal of Rare Diseases March 2017
ACTIVE September 2016
Lay Summary With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD and I-CAH Registries and identify their strengths and weaknesses.

45,X/46,XY mosaicism and its long-term effects (Linhardt-Johansen, Jun 2015)

 

Yr 2015
Study ID 201506_MLJ
PI Linhardt-Johansen
Institution

Copenhagen University Hospital

Title 45,X/46,XY mosaicism and its long-term effects 
Dissemination Events  Poster at ESPE (2016)
Publications Acknowledging I-DSD Support Abstract published in Hormone Research in PaediatricsVolume 82 Supplement1.
ACTIVE Nov 2015
Lay Summary Our study will focus on long-term outcomes in terms of growth, sex development adn fertility in male patients with 45,X/46,XY mosaicism and its variants.

DSDnet: Survey of surgical practice in DSD (Riedl, May 2016)

 

Yr 2016
Study ID 201605_SR
PI Riedl
Institution Medical University of Vienna
Title DSDnet: Survey of surgical practice in DSD
Dissemination Events

Oral at I-DSD 2017, Poster at ESPE 2017

Publications Acknowledging I-DSD Support  
ACTIVE May 2016
Lay Summary COST SURVEY - WG4 has a specific aim of understanding the "Experiences and Perceptions of Research" and has been exploring the models of clinical care and research priorities of health care professionals. It has already performed a survey of paediatric endocrinologists which was presented at the I-DSD meeting in Ghent in 2015 and it has recently completed a survey of clinical psychologists. A patient/parent workshop is also planned for 2016.

Evaluation of Islamic Perspectives Regarding a Medical Condition Known as Disorders of Sex Development (Zabidi Aug 2016)

 

Yr 2016
Study ID 201604_TBZ
PI Zabidi
Institution University of Wales Trinity Saint David
Title Evaluation of Islamic Perspectives Regarding a Medical Condition Known as Disorders of Sex Development
Dissemination Events  
Publications Acknowledging I-DSD Support  
ACTIVE April 2016
Further Information Disorders of Sex Development has resemblance characteristics with a condition known in Islam as khunthā. Two types of khunthā, discernible and intractable khunthā have been defined by the classical Muslim jurists along with the method of gender assignment. Therefore, it is important to study these conditions from both, medical and Islamic perspectives, as a guideline for Muslim communities who are facing DSD condition.

Patient Reported Outcomes In Conditions Affecting Sex Development (McQueen, Oct 2016)

 

Yr 2016
Study ID 201610_ZM
PI McQueen
Institution University of Glasgow
Title Patient Reported Outcomes In Conditions Affecting Sex Development
Dissemination Events  
Publications Acknowledging I-DSD Support  
ACTIVE October 2016
Lay Summary Student project - To conduct a literature review for patient and parent reported outcomes in CAH and then develop a questionnaire so this information can be collected in the clinic. Field test the questionnaire in a clinical setting and incorporate the questionnaire into the registry.

Frequency of adrenal crisis, hypoglycaemia and seizures in patients with CAH based on I-CAH registry (RosNov 2015)

 

Yr 2015
Study ID 201510_RR
PI Ross
Institution

University of Sheffield

Title Frequency of adrenal crisis, hypoglycaemia and seizures in relation to treatment and disease control in patients with CAH based on I-CAH registry
Dissemination Events Poster at ECE (2016)
Publications Acknowledging I-DSD Support  
ACTIVE Nov 2015
Lay Summary CAH is a condition associated with adrenal crisis which could be life threatening. Some patients could experience even hypoglycaemia and seizures. These could be prevented by strict adherence to sick day rules. Aims of this study are to identify the prevalence of adrenal crisis and sick day episodes in relation to treatment and identify the prevalence of hypoglycaemia and seizures. 

Birth weight in Different Etiologies of DSD (Poyrazoglu, Feb 2015)

 

Yr 2015
Study ID 201502_SP
PI Poyrazoglu
Institution

Istanbul University

Title Birthweight in Different Etiologies of DSD
Dissemination Events

Poster Presentation ESPE 2015 Barcelona

Publications Acknowledging I-DSD Support manuscript published JCEM 2017
ACTIVE  Feb 2015
Lay Summary Boys are always heavier than girls at birth. It is thought to originate from the Y chromosome and androjens. Although some studies showed that it is dependent of androjens, other did not. The aim of this study was to determine birth weight of term children   in different etiologies of DSD.  

DSDnet: WG4 An International Survey of Specialist Care for DSD (Kyriakou Sep 2014)

 

Yr 2014
Study ID 201406_AK
PI Kyriakou
Institution

University of Glasgow

Title DSDnet: WG4 An International Survey of Specialist Care for DSD 
Dissemination Events

Oral at I-DSD (2015), Poster at ESPE (2015)

Publications Acknowledging I-DSD Support

Survey of specialists identified using the registry completed early 2015
Paper published in Orphanet Journal of Rare Diseases Nov 2016

ACTIVE  Sep 2014
Lay Summary COST SURVEY - An international survey of centres that deliver specialist care for children with DSD. The survey aims to explore the current models of clinical practice and professional development, the areas of future service development and the current models of communication between clinicians, families and peer support groups in specialist DSD centres. 

Outcome in Male PAIS (Lucas-Herald 2013)

 

Yr 2013
Study ID 201312_ALH
PI Lucas-Herald
Institution

University of Glasgow

Title Outcome in Male PAIS 
Dissemination Events

Orals at I-DSD symposium (2015) and ENDO (2016), Poster at ESPE (2015)

Publications Acknowledging I-DSD Support

Lucas-Herald et al.  The Long Term Outcome Of Boys With Partial Androgen Insensitivity Syndrome And A Mutation In The Androgen Receptor Gene,JCEM (2016)

ACTIVE  2015
Lay Summary

This study will review the Registry to obtain information regarding patients with PAIS born from 1997-2003 to determine the outcomes and clinical characteristics of these patients.
Report
PAIS is a rare condition caused by defects in the androgen receptor gene. To date there is limited information regarding the outcomes for affected men. The I-DSD Registry offers the opportunity for collaborative research internationally regarding conditions such as PAIS. Further information regarding outcomes for patients with PAIS will aid future management of such individuals


Rare Disease Registries - Perception Of Parents & Young People (Jayasena, Jun 2013)

 

Yr 2013
Study ID 201303_AJ
PI Jayasena
Institution

University of Glasgow

Title Rare Disease Registries - Perception Of Parents & Young People 
Dissemination Events

Poster at the Annual ESPE, Dublin, Sept 2014

Publications Acknowledging I-DSD Support

Rare Disease Registries-Perception of Parents & Young People http://espe2014abstracts.eurospe.org/hrp/0082/eposters/hrp0082p2-d2-581_eposter.pdf 

ACTIVE  2013
Lay Summary To understand the views of parents and young people about rare-disease registries; a questionnaire was completed by two groups, those who were participating in the I-DSD Registry and who had a rare condition other than DSD. Both groups have positive outlook on rare-disease registries and are keen to access more information.

Incidence of congenital anomalies associated with DSD (Cox 2012)

 

Yr 2012
Study ID 201302_KC
PI Cox
Institution

University of Glasgow

Title Incidence of congenital anomalies associated with DSD
Dissemination Events

Oral and poster presentations at BES (2013), I-DSD symposium (2013), ENDO (2013), ESPE (2013)  

Publications Acknowledging I-DSD Support

Cox et al.  Novel associations in disorders of sex development: findings from the I-DSD Registry. JCEM 2014

ACTIVE  2014
Lay Summary A study looking at patterns in the diverse range of physical conditions associated with DSD in the I-DSD Registry. Also looking for trends of anomaly type within specific disorder classifications. 

Trends in sex assignment (Kolesinka 2012)

 

Yr 2012
Study ID 201302_ZK
PI Kolesinka
Institution

University of Glasgow

Title

Trends in sex assignment 

Dissemination Events

Oral presentation:  I-DSD Symposium, Glasgow (June 2013). 
Oral presentation:  ESPE Joint Meeting, Milan (Sept 2013).  

Publications Acknowledging I-DSD Support

Paper:  Pediatrics (2014) doi: 10.1542/peds.2014-1088

ACTIVE Feb 2013
Lay Summary In all three groups of cases diagnosed with partial androgen insensitivity syndrome, disorder of androgen synthesis and disorder of gonadal development there was a significant difference in the initial EMS between the group raised as boys and the group raised as girls. 

I-DSD registry evaluation and case analysis (Dimovasili 2012)

 

Yr 2012
Study ID 201206_CD
PI Dimovasili
Institution

University of Glasgow

Title

I-DSD registry evaluation and case analysis 

Dissemination Events

 

Publications Acknowledging I-DSD Support

MSc (University of Glasgow, August 2012). "The Contribution of the I-DSD Registry in the Elucidation of DSD Aetiology”

ACTIVE June 2012
Lay Summary The aim of the study is to evaluate the utility of the I-DSD registry database, present its context, assess its strengths and weaknesses, highlight interesting cases that require further investigation, and propose genetic tests to be established that would benefit such investigations. Overall evaluation of the database context so far, encouragement of more countries/institutes to participate, highlight the need for more adequate investigation and the need for a global genetic test to be established to resolve the causes of DSDs.