Publications Related To The I-DSD/I-CAH Registries And Their Network

Stancampiano MR, Lucas-Herald AK, Russo G, Rogol AD, Ahmed SF, Testosterone Therapy in Adolescent Boys: The Need for a Structured Approach. Horm Res Paediatr 2019
Leunbach TL, O’Toole S, Springer A, Williamson PR, Ahmed SF. A Systematic Review of Core Outcomes for Hypospadias Surgery. Sex Dev 2019
Bacila I, Adaway J, Hawley J, Mahdi S, Krone R, Patel L, Alvi S, Randell T, Gevers E, Dattani M, Cheetham T, Kyriakou A, Schiffer L, Ryan F, Crowne E, Davies J, Ahmed SF, Keevil B, Measurement of Salivary Adrenal-Specific Androgens as Biomarkers of Therapy Control in 21-Hydroxylase Deficiency. J Clin Endocrinol Metab 2019
Flück C, Nordenström A, Ahmed SF, Ali S, Berra M, Hall J, Köhler B, Pasterski V, Robeva , Schweizer K, Springer A, Westerveld P, Hiort O, Cools M, Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet. Eur J Endocrinol 2019
Hiort O, Cools M, Springer A, McElreavey K, Greenfield A, Wudy S, Kulle A, Ahmed SF, Dessens A, Balsamo A, Maghnie M, Bonomi M, Dattani M, Persani L, Audi L, Addressing gaps in care of people with conditions affecting sex development and maturation. Nat Rev Endocrinol 2019
Van der Straaten S, Springer A, Zecic A, Hebenstreit D, Tonnhofer U, Gawlik A, Baumert M, Szeliga K, Debulpaep S, Desloovere A, Tack L, Smets K, Wasniewska M, Corica D, Calafiore M, Lindhardt Ljubicic M, Siegfried Busch A, Juul A, Nordenström A, Sigurdsson J, Flück C, Haamberg T, Graf S, Hannema S, Wolffenbuttel K, Hiort O, Ahmed SF, Cools M, The External Genitalia Score (EGS): A European multicenter validation study. J Clin Endocrinol Metab 2019
Ljubicic ML, Jørgensen A, Acerini C, Andrade J, Balsamo A, Bertelloni S, Cools M, Tadokoro Cuccaro R, Darendeliler F, Flück C, Grinspon R, Maciel-Guerra A, Guran T, Hannema S, Lucas-Herald A, Hiort O, Martin Holterhus P, Lichiardopol C, Looijenga L, Ortolano R, Riedl S, Ahmed SF, Juul A, Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis. J Clin Endocrinol Metab 2019
Pofi R, Prete A, Thornton-Jones V, Bryce J, Ali SR, Ahmed SF, Balsamo A, Baronio F, Cannuccia A, Guven A, Guran T, Darendeliler F, Higham C, Bonfig W, de Vries L, Bachega TASS, Miranda MC, Mendonca BB, Iotova V, Korbonits M, Krone NP, Krone R, Lenzi A, Arlt W, Ross RJ, Isidori AM, Tomlinson JW. Plasma renin measurements are unrelated to mineralocorticoid dose in patients with primary adrenal insufficiency. J Clin Endocrinol Metab 2020
Ali SR, Lucas-Herald A, Bryce J, Ahmed SF. The Role of International Databases in Understanding the Aetiology and Consequences of Differences/Disorders of Sex Development. Int. J. Mol. Sci. 2019
Bertalan R, Lucas-Herald A, Kolesinska Z, Berra M, Cools M, Balsamo A, Hiort O. Evaluation of DSD training schools organized by cost action BM1303 “DSDnet”. Orphanet J Rare Dis 2018
Tack L.J.W, Maris E, Looijenga L.H.J, Hannema S.E, Audi L, Köhler B, Holterhus P., M, Riedl S, Wisniewski A, Flück C.E, Davies J.H, T’Sjoen G, Lucas-Herald A.K, Evliyaoglu O, Krone N, Iotova V, Marginean O, Balsamo A, Verkauskas G, Weintrob N, Ellaithi M, Nordenström A, Verrijn Stuart A, Kluivers K.B, Wolffenbuttel K.P, Ahmed S.F, Cools M, Management of gonads in adults with androgen insensitivity: an international survey. Horm Res Paediatr 2018
Ali SR, Bryce J, Cools M, Korbonits M, Beun JG, Taruscio D, Danne T, Dattani M, Dekkers OM, Linglart A, Netchine I, Nordenstrom A, Patocs A, Persani L, Reisch N, Smyth A, Sumnik Z, Visser WE, Hiort O, Pereira AM, Ahmed SF. The current landscape of European registries for rare endocrine conditions. Eur J Endocrinol 2018
Sanders C, Hall J, Sanders C, Dessens A, Bryce J, Callens N, Cools M, Kourime M, Kyriakou A, Springer A, Audi L, Balsamo A, Iotova V, Mladenov V, Krawczynski M, Nordenskjöld A, Rozas M, Claahsen-van der Grinten H, Hiort O, Riedl S, Ahmed SF. 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
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
Kourime M, Ahmed SF. Virtual Networks for Exchanging Information and Biomaterials: Future Directions. Sex Dev. 2018
Cools, M., Nordenström, A., Robeva, R., Hall, J., Westerveld, P., Flück, C., Köhler, B., Berra, M., Springer, A., Schweizer, K., Pasterski, V., & COST Action BM1303 working group 1. Caring for individuals with a difference of sex development (DSD): a Consensus Statement. Nature reviews. Endocrinology 2018
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
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
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
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
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
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
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
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 development. Endocr Dev. 2014
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
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 PM, Hughes I, Krone N, Lisa L, Morel Y, Soder O, Wieacker P, Ahmed SF. Novel associations in disorders of sex development: findings from the I-DSD Registry. J Clin Endocrinol Metab. 2014
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
Ahmed SF, Rodie M, Jiang J, Sinnott RO. The European disorder of sex development registry: a virtual research environment. Sex Dev. 2010