Dissemination from the I-DSD Registry




Tack L et al.  Management of gonads in adults with androgen insensitivity: an international survey. Horm Res Paediatrics  2018  doi.org/10.1159/000493645


Ali et al.  The current landscape of European registries for rare endocrine conditions.  Eur J Endocrinol. 2018 Nov 1. doi: 10.1530/EJE-18-0861.


Sanders C et al. Involving individuals with disorders of sex development and their parents in exploring new models of shared learning: Proceedings from a DSDnet COST action workshop.  Sex Dev 2018  Jun 23. doi: 10.1159/000490081.


Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier L, van Enckevort D, Roos M, Jacobsen A, Cornet R, Ahmed SF, Bros-Facer V, Popa V, van Meel M, Renault D, von Gizycki R, Santoro SM, Landais P, Torreri P, Carta C, Mascalzoni D, Gainotti S, Lopez E, Ambrosini A, Müller H, Reis R, Bianchi F, Rubinstein YR, Lochmüller H, Taruscio D. Recommendations for improving the quality of rare disease registries. Int. J. Environ. Res. Public Health 2018, 15(8), 1644; https://doi.org/10.3390/ijerph15081644

Virtual Networks for Exchanging Information and Biomaterials: Future Directions. Sex Dev. 2018;12(1-3):140-144. Epub 2018 Feb 7. Kourime M, Ahmed SF. doi: 10.1159/000486872.

Sex Assignment in Conditions Affecting Sex Development. J Clin Res Pediatr Endocrinol. 2017 Dec 30;9 (Suppl 2):106-112. Epub 2017 Dec 27. Markosyan R, Ahmed SF  doi: 10.4274/jcrpe.2017.S009.

Data Quality in Rare Diseases Registries. Adv Exp Med Biol. 2017;1031:149-164. Kodra Y, Posada de la Paz M, Coi A, Santoro M, Bianchi F, Ahmed F, Rubinstein YR, Weinbach J, Taruscio D  DOI 10.1007/978-3-319-67144-4_8.

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development. BMJ Paediatrics Open, August 2017   Dessens A, Guaragna-Filho G, Kyriakou A, Bryce J, Sanders C, Nordenskjöld A..... Faisal Ahmed S.  DOI 10.1136/bmjpo-2017-000132

Birth Weight in Different Etiologies of Disorders of Sex Development. The Journal of clinical endocrinology and metabolism (2017). 102 (3), pp. 1044-1050  Poyrazoglu S, Darendeliler F, Ahmed SF, Hughes I, Bryce J, Jiang J,…. Krone N. DOI 10.1210/jc.2016-3460

Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development. Human reproduction (Oxford, England) (2017). 32 (10), pp. 2130-2137. Nixon R, Cerqueira V, Kyriakou A, Lucas-Herald A, McNeilly J, McMillan M..... Ahmed SF. DOI  10.1093/humrep/dex280

Histological Assessment of Gonads in DSD: Relevance for Clinical Management. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation. (2017). Spoor JA, Oosterhuis JW, Hersmus R, Biermann K, Wolffenbuttel KP, Cools M..... Looijenga LHJ. DOI 10.1159/000481757

An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development (2017). Orphanet journal of rare diseases (2017). 12 (1), pp. 56. Kourime M, Bryce J, Jiang J, Nixon R, Rodie M, Ahmed S. DOI 10.1186/s13023-017-0603-7

Adrenal crisis and sick day episodes among CAH patients: preliminary report based on international CAH (I-CAH) registry. Endocrine Abstracts (2016). 41 EP14. Karunasena N, Daniel E, Bryce J, Jiang J, Faisal A, Guran T..... Ross R. DOI DOI:10.1530/endoabs.41.EP14

The outcome of prenatal identification of sex chromosome abnormalities. Archives of disease in childhood. Fetal and neonatal edition (2016). 101 (5), pp. F423-7. Lucas-Herald AK, Cann F, Crawford L, Morrison H, Boroujerdi M, Nelson SM, Ahmed SF... McGowan R.  DOI 10.1136/archdischild-2015-309681


Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation (2016). 10 (3), pp. 130-5. Gazdagh G, Tobias ES, Ahmed SF, McGowan R, DDD Study Group.  DOI 10.1159/000447958

Response to the Council of Europe Human Rights Commissioner's Issue Paper on Human Rights and Intersex People.  European urology (2016). 70 (3), pp. 407-9. Cools M, Simmonds M, Elford S, Gorter J, Ahmed SF, D'Alberton F, Springer A. Management Committee of the European Cooperation in Science and Technology Action BM1303.  DOI 10.1016/j.eururo.2016.05.015

Current models of care for disorders of sex development - results from an International survey of specialist centres. Orphanet journal of rare diseases (2016), 11 (1), pp. 155. Kyriakou A, Dessens A, Bryce J, Iotova V, Juul A, Krawczynski M, Nordenskjöld A... Ahmed SF.  DOI 10.1186/s13023-016-0534-8

Shorter anogenital and anoscrotal distances correlate with the severity of hypospadias: A prospective study. Journal of pediatric urology (2017), 13 (1), pp. 57.e1-57.e5. Cox K, Kyriakou A, Amjad B, O'Toole S, Flett ME, Welsh M, Ahmed SF... Cascio S. DOI 10.1016/j.jpurol.2016.08.006

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity. The Journal of clinical endocrinology and metabolism (2016), 101 (11), pp. 4468-4477. Hornig NC, Ukat M, Schweikert HU, Hiort O, Werner R, Drop SL, Cools M... Holterhus PM. DOI 10.1210/jc.2016-1990

Disorders of sex development: advances in genetic diagnosis and challenges in management. Advances in Genomics and Genetics (2015), pp. 165. Ahmed F, Kyriakou A, Tobias E, Lucas-Herald A, McGowan R. DOI 10.2147/agg.s53226

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene. The Journal of clinical endocrinology and metabolism (2016), 101 (11), pp. 3959-3967. Lucas-Herald A, Bertelloni S, Juul A, Bryce J, Jiang J, Rodie M, Sinnott R... Ahmed SF. DOI 10.1210/jc.2016-1372

Disorders of Sex Development (DSD): Networking and Standardization Considerations. Hormone and metabolic research (2015). 47 (5), pp. 387-93. Sandberg DE, Callens N, Wisniewski AB. DOI 10.1055/s-0035-1548936

Identification Of An AR-Mutation Negative Class Of Androgen Insensitivity By Determining Endogenous AR-Activity. J Clin Endocrinol Metab August 2016.      Hornig NC, Ukat M, Schweikert HU, Hiort O, Werner R, Drop SLS, Cools M, Hughes IA, Audi L, Ahmed SF, Demiri J, Rodens P, Worch L, Wehner G, Dunstheimer D, Müller-Roßberg E, Reinehr T, Hadidi AT, Eckstein AK, van der Horst C, Seif C, Siebert R, Ammerpohl O, Holterhus P-M.

The Long Term Outcome Of Boys With Partial Androgen Insensitivity Syndrome And A Mutation In The Androgen Receptor Gene. J Clin Endocrinol Metab July 2016.        Lucas-Herald AK, Bertelloni S, Juul A, Bryce J, Jiang J, Rodie M, Sinnott R, Boroujerdi M, Lindhardt-Johansen M, Hiort O, Holterhus PM, Cools M, Guaragna-Filho G, Guerra-Junior G, Weintrob N, Hannema S, Drop S, Guran T, Darendeliler F, Nordenstrom A, Hughes IA, Acerini C, Tadokoro-Cuccaro R, Ahmed SF.

International networks for supporting research and clinical care in the field of disorders of sex development. Endocr Dev. 2014;27:284-92
Ahmed SF, Bryce J, Hiort O. (in Understanding Differences and Disorders of Sex Development (DSD), Karger 2014)

Changes Over Time In Sex Assignment For Disorders Of Sex Development.  Pediatrics 2014 134(3):1-6. Kolesinska K, Ahmed SF, Niedziela M, Bryce J, Molinska-Glura M, Rodie M, Jiang J, Sinnott RO, Hughes IA, Darendeliler F, Hiort O, van der Zwan Y, Cools M, Guran T, Holterhus P-M, Bertelloni S, Lisa L, Arlt W, Krone N, Ellaithi M, Balsamo A, Mazen I, Nordenstrom A,  Lachlan K, Alkhawari M, Chatelain P, Weintrob N. 

Disorders of Sex Development: Challenges for the Future. J Clin Endocrinol Metab July 2013 97(7), pp. 2292–2294      Sarafoglou K and Ahmed SF.

Requirements for a multicentric multidisciplinary registry on patients with disorders of sex development.  J Pediatr Urol. 2012 Dec;8(6):624-8.  Hiort O, Wünsch L, Cools M, Looijenga L, Cuckow P. 

The European disorder of sex development registry: a virtual research environment Sex Dev. 2010 Sep;4(4-5):192-8. Ahmed SF, Rodie M, Jiang J, Sinnott RO.  



International Meeting of Pediatric Endocrinology

10th International Meeting, Washington D.C., 14-17 September 2017

Understanding The Needs Of Professionals Who Provide Psychosocial Care For Children And Adults With DSD. Dessens, Arianne et al. P1-1504. Horm Res Paediatr 2017;88(suppl 1):1-628.

Management Of Fludrocortisone And Salt Therapy In 0-3 Year Old Children With Congenital Adrenal Hyperplasia (CAH) – Preliminary Analysis.Van Der Linde, Annelieke et al. P2-117. Horm Res Paediatr 2017;88(suppl 1):1-628.

European Consensus On The Standardized Follow- Up Of Individuals Who Have A Dsd Across The Life Span. Cools Martine et al. P2-1502. Horm Res Paediatr 2017;88(suppl 1):1-628.

Defining The Dose, Type And Timing Of Glucocorticoid And Mineralocorticoid Replacement In 256 Children And Adults With Congenital Adrenal Hyperplasia (Cah) In The I-Cah Registry. Daniel, Eleni et al. P2-1503. Horm Res Paediatr 2017;88(suppl 1):1-628.

Current Surgical Practice In Dsd: Results Of The Cost/Dsdnet Surgery Survey. Riedl, Stefan. P2-1515.  Horm Res Paediatr 2017;88(suppl 1):1-628.


The Long Term Prognostic Value of Identifying a Mutation in the Androgen Receptor Gene in Boys with Partial Androgen Insensitivity Syndrome. Endocrine Society's 98th Annual Meeting and Expo, April 1–4, 2016 – Boston, Presentation Number: OR10-1                                                                                       Lucas-Herald AK, Bertelloni S, Juul A, Bryce J, Jiang J, Rodie M, Boroujerdi M, Johansen ML, Hiort O, Holterhus P-M, Cools M,  Desloovere A, Filho GG, Guerra-Junior G, Weintrob N, Hannema SE, Drop SL, Guran T, Darendeliler F, Poyrazoglu S, Nordenstrom A, Hughes LA, Acerini CL, Tadokoro-Cuccaro R and Ahmed SF

Novel associations in disorders of sex development: findings from the I-DSD Registry.  J Clin Endocrinol Metab. 2014 Feb;99(2):E348-55.
Cox K, Bryce J, Jiang J, Rodie M, Sinnott R, Alkhawari M, Arlt W, Audi L, Balsamo A, Bertelloni S, Cools M, Darendeliler F, Drop S, Ellaithi M, Guran T, Hiort O, Holterhus P-M, Hughes I, Krone N, Lisa L, Morel Y, Soder O, Wieacker P and Ahmed SF.


European Congress of Endocrinology (ESE)

Munich, Germany, 28th-31st May 2016

Adrenal crisis and sick day episodes among CAH patients: preliminary report based on international CAH (I-CAH) registry                                                                                                                                        Nayananjani Karunasenaet al,ESE abstract (2016) 41 EP14


International Symposium on Disorders of Sex Development

5th I-DSD Ghent, Belgium, 11th-13th June 2015

I-DSD 2015 abstract book

4th I-DSD Glasgow, UK, 7th-9th June 2013

I-DSD 2013 Abstract Book

Temporal Changes In Sex Assignment Based On Data Gathered From The I-DSD Registry.  Zofia Kolesinska.   

Range and Patterns of Associated Conditions in Disorders of Sex Development: Findings from the I-DSD Registry. Kathryn Cox.  


European Society for Paediatric Endocrinology (ESPE)

55th Annual Meeting Paris, France, 10th-12th September 2016

A Multicenter Study on Long-Term Outcomes in 56 Males with 45,X/46,XY Mosaicism Marie Lindhardt Johansenet al, ESPE Abstracts (2016) 86 P-P1-352 

A New International Registry Highlights the Differences in Practice for Reaching a Diagnosis of CAH – On Behalf of the I-CAH/I-DSD Registry User Group                                                                                                   Mariam Kourimeet al, ESPE Abstracts (2016) 86 P-P1-356 

54th Annual Meeting Barcelona, Spain, 1st-3rd October 2015

I-DSD & I-CAH registry update for ESPE 2015  [slides]

I-DSD and I-CAH registry update ESPE 2015 
Ahmed et al, ESPE Abstracts (2015) 84 WG3.4

Birgit Köhler ESPE Abstracts (2015) 84 WG3.5 

European Reference Network: Accomplishments of the COST Action DSDnet
Olaf Hiort ESPE Abstracts (2015) 84 WG3.3 

Diagnostic Approach to a Newborn with Suspected DSD: Results From an International Survey of Specialist Care for DSD  
Andreas Kyriakou et al, ESPE Abstracts (2015) 84 P-2-307

Current Models of Practice & Professional Development of Clinicians in DSD Centres – Results from an International Survey of Specialist Care for DSD  
Andreas Kyriakou et al, ESPE Abstracts (2015) 84 P-1-61

Management of Gonads in Adults with Androgen Insensitivity: An International Survey
Ellen Maris, L H J Looijenga & Martine Cools ESPE Abstracts (2015) 84 P-2-310

Long-term Endocrine Outcome in Men with Partial Androgen Insensitivity Syndrome
Angela K Lucas-Herald at al  ESPE Abstracts (2015) 84 P-1-58

Birth Weight in Different Aetiologies of Disorder of Sex Development
Sukran Poyrazoglua et al, ESPE Abstracts (2015) 84 P-2-312 

53rd Annual Meeting Dublin, Ireland, 18th-21st September 2014

I-DSD and I-CAH Update for ESPE 2014  [slides]

I-DSD and I-CAH Registry Update
Jillian Bryce ESPE Abstracts (2014) 82 WG3.6

DSDnet: a COST Action on the Systematic Elucidation of Differences of Sex Development
Olaf Hiort  ESPE Abstracts (2014) 82 WG3.8 

DSD-Life: Clinical European Study on the Outcome of DSD
Birgit Köhler ESPE Abstracts (2014) 82 WG3.7 

Rare Disease Registries: Perception of Parents and Young People
Arundathi Jayasena, Miriam Muscarella & Faisal Ahmed ESPE Abstracts (2014) 82 P-D-2-2-581 

52nd Annual Meeting & 9th Joint Meeting of Paediatric Endocrinology, Milan, Italy, 19th-23rd September 2013

ESPE 2013 Abstract Book

I-DSD Registry Update ESPE 2013  [slides]

The I-DSD registry update.  Jillian M. Bryce et al.  WG6-117 Disorders of Sex Development (DSD): Information and Communication in the Context of DSD.   

dsd-LIFE: Clinical European study on the outcome of and experiences with hormonal therapies, surgery, psychological support and psychological intervention in DSD.  Birgit Köhler et al.   

DSDnet: building a network for studies of differences of sex development.  Olaf Hiort.    

Temporal changes in sex assignment based on data gathered from the I-DSD Registry.  Zofia Kolesinska et al. 

51st Annual Meeting, Leipzig, Germany, 20-23rd September 2012 

ESPE 2012 WG Abstract Book 

Update on the International DSD Registry.  Jillian Bryce, Jipu Jiang, Martina Rodie, John Watt, S. Faisal Ahmed.  Horm Res 2012;78(suppl 1); p14. 

The future of a European reference network (ERN) on DSD. Olaf Hiort, Faisal Ahmed.   Horm Res 2012;78(suppl 1); p15. 


Other Meetings

The I-DSD Registry A Forum For International Research & Professional Networking.  S. Faisal Ahmed, Jillian Bryce.    
2nd International Workshop on Rare Disease and Orphan Drug Registries (EpiRARE), Rome, Italy, 21st-22nd October 2013

The International DSD RegistryBryce J, Jiang J, Rodie ME, Watt J & Ahmed SF. 
1st International Workshop on Rare Disease and Orphan Drug Registries (EpiRARE), Rome, Italy, 8th-9th October 2012

Associated Congenital Anomalies in Disorders of Sex Development: Insights from the I-DSD Registry. Kathryn Cox et al
ENDO 2013, San Francisco, USA, 15th-18th June 2013

The spectrum of associated congenital anomalies in disorders of sex development: a review of the I-DSD Registry.  Kathryn Cox et al Endocrine Abstracts (2013) 31 P148
Society for Endocrinology BES 2013, Harrowgate, UK, 18th-21st March 2013