I-DSD/CAH Registry Related Output

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

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

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

Dessens A, Guaragna Filho G, Kyriakou A, Bryce J, Sanders C, Nordenskjöld A, Rozas M, Iotova V, Ediati A, Juul A, Krawczynski M, Hiort O, Ahmed SF. Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development. BMJ Paediatrics Open, 2017  doi: 10.1136/bmjpo-2017-000132

Poyrazoglu S, Darendeliler F, Ahmed SF, Bryce J, Jiang J, Rodie M, Hiort O, Hannema SE, Bertelloni S, Lisa L, Guran T, Hughes IA, Cools M, Claahsen-van der Grinten HL, Nordenstrom A, Holterhus PM, Köhler B, Niedziela M, Krone N. Birth Weight in Different Etiologies of Disorders of Sex Development.  J Clin Endocrinol Metab 2017;102:1044-1050 doi: 10.1210/jc.2016-3460

Kourime M, Bryce J, Jiang J, Nixon R, Rodie M, Ahmed S. An assessment of the quality of the I-DSD and the I-CAH registries – international registries for rare conditions affecting sex development (2017). Orphanet J Rare Dis 2017;12:56. doi: 10.1186/s13023-017-0603-7

Nayananjani Karunasen, Eleni Daniela, Jillian Bryce, Jipu Jiang, S Faisal Ahmed, Tulay Guran, Berenice B Mendonca, Tania A Bachega, Oliver Blankenstein, Birgit Koehler, Uta Neumann, Carlo Acerini, Nils Krone, Walter Bonfig, Klaus Mohnike, Heba Elsedfy & Richard Ross Adrenal crisis and sick day episodes among CAH patients: preliminary report based on international CAH (I-CAH) registry. Endocrine Abstracts (2016). 41 EP14. doi:10.1530/endoabs.41.EP14

Kyriakou A, Dessens A, Bryce J, Iotova V, Juul A, Krawczynski M, Nordenskjöld A, Rozas M, Sanders C, Hiort O, Ahmed SF. Current models of care for disorders of sex development – results from an international survey of specialist centres. Orphanet J Rare Dis. 2017;11:155 doi: 10.1186/s13023-016-0534-8

Hornig NC, Ukat M, Schweikert HU, Hiort O, Werner R, Drop SL, Cools M, Hughes IA, Audi L, Ahmed SF, Demiri J, Rodens P, Worch L, Wehner G, Kulle AE, Dunstheimer D, Müller-Roßberg E, Reinehr T, Hadidi AT, Eckstein AK, van der Horst C, Seif C, Siebert R, Ammerpohl O, Holterhus PM. Identification of an AR-mutation negative class of androgen insensitivity by determining endogenous AR-activity. J Clin Endocrinol Metab. 2016;101:4468-4477. doi: 10.1210/jc.2016-1990

M Kourime, J Bryce, J Jiang, N Karunasen, T Guran, SE Hannema, M Cools, HL Claahsen , N Krone, F Darendeliler, A Balsamo, W Bonfig, A Nordenstrom, O Hiort, L Dagmar, R Ross, SF Ahmed, B Koehler, C Acerini, BB Mendonca, S Bertelloni, L Lisa, W Bonfig, H Elsedfy, O Marginean. 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 ESPE Abstracts (2016) 86 P-P1-356.

Lucas-Herald A, Ahmed SF, Bertelloni S, Juul A, Bryce J, Jiang J, Rodie M, Boroujerdi M , Johansen ML, Hiort , Holterhus PM, Cools M, Desloovere A, Guaragna Filho G, Guerra-Junior G, Weintrob N, Hannema S, Drop S, Guran T, Darendeliler F, Nordenstrom A, Hughes IA. Clinical Characteristics And Outcomes For Males With PAIS: An I-DSD Registry Study. ESPE Abstracts (2016) 84. P-P1-58.

Lucas-Herald A, Bertelloni S, Juul A, Bryce J, Jiang J, Rodie M1, 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. The long term outcome of boys with partial androgen insensitivity syndrome and androgen receptor gene mutations. J Clin Endocrinol Metab. 2016;101:3959-3967. doi: 10.1210/jc.2016-1372.

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

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. Changes Over Time In Sex Assignment For Disorders Of Sex Development. Pediatrics 2014 134:1-6.

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


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