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5. Varianten der Geschlechtsentwicklung – Aktualisierung der S2k-Leitlinie.

Author

Krege, S., Eckoldt, F., Richter-Unruh, A., Leitliniengruppe, Brunner, F., Heckmann, M., Hildebrandt, T., Hiort, O., Holterhus, P.-M., Janssen-Schmidchen, G., Kumst, A., Menzel, H.-J., Neumann, U., Plett, K., Rall, K., Reisch, N., Richter-Appelt, H., Roggemann, E., Romer, G., and Rosen, U.

Subjects
SEX differentiation disorders, MEDICAL protocols, SUPPORT groups, PATIENT compliance, CONSENSUS (Social sciences), PATIENT autonomy, PARENTS, FERTILITY, HUMAN rights, PARADIGMS (Social sciences), PUBLISHING, COMMUNICATION, SOCIAL support, HEALTH care teams
Abstract

Copyright of Die Urologie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024
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7. Electronic reporting of rare endocrine conditions within a clinical network:results from the EuRRECa project

Author

Ali, S. R., Bryce, J., Priego-Zurita, A. L., Cherenko, M., Smythe, C., de Rooij, T. M., Cools, M., Danne, T., Katugampola, H., Dekkers, O. M., Hiort, O., Linglart, A., Netchine, I., Nordenstrom, A., Attila, P., Persani, L., Reisch, N., Smyth, A., Sumnik, Z., Taruscio, D., Visser, W. E., Pereira, A. M., Appelman-Dijkstra, N. M., Ahmed, S. F., Ali, S. R., Bryce, J., Priego-Zurita, A. L., Cherenko, M., Smythe, C., de Rooij, T. M., Cools, M., Danne, T., Katugampola, H., Dekkers, O. M., Hiort, O., Linglart, A., Netchine, I., Nordenstrom, A., Attila, P., Persani, L., Reisch, N., Smyth, A., Sumnik, Z., Taruscio, D., Visser, W. E., Pereira, A. M., Appelman-Dijkstra, N. M., and Ahmed, S. F.

Abstract

Objective: The European Registries for Rare Endocrine Conditions (EuRRECa, eurreb. eu) includes an e-reporting registry (e-REC) used to perform surveillance of conditions within the European Reference Network (ERN) for rare endocrine conditions (Endo-ERN). The aim of this study was to report the experience of e-REC over the 3.5 years since its launch in 2018. Methods: Electronic reporting capturing new encounters of Endo-ERN conditions was performed monthly through a bespoke platform by clinicians registered to participate in e-REC from July 2018 to December 2021. Results: The number of centres reporting on e-REC increased to a total of 61 centres from 22 countries. A median of 29 (range 11, 45) paediatric and 32 (14, 51) adult centres had reported cases monthly. A total of 9715 and 4243 new cases were reported in adults (age ≥18 years) and children, respectively. In children, sex development conditions comprised 40% of all reported conditions and transgender cases were most frequently reported, comprising 58% of sex development conditions. The median number of sex development cases reported per centre per month was 0.6 (0, 38). Amongst adults, pituitary conditions comprised 44% of reported conditions and pituitary adenomas (69% of cases) were most commonly reported. The median number of pituitary cases reported per centre per month was 4 (0.4, 33). Conclusions: e-REC has gained increasing acceptability over the last 3.5 years for capturing brief information on new encounters of rare conditions and shows wide variations in the rate of presentation of these conditions to centres within a reference network. Significance statement Endocrinology includes a very wide range of rare conditions and their occurrence is often difficult to measure. By using an electronic platform that allowed monthly reporting of new clinical encounters of several rare endocrine conditions within a defined network that consisted of several reference centres in Europe, the EuRRECa project sh

Published
2023

10. Sex dimorphism of weight and length at birth: evidence based on disorders of sex development

Author

Amais, D.S.R., primary, da Silva, T.E.R., additional, Barros, B.A., additional, de Andrade, J.G.R., additional, de Lemos-Marini, S.H.V., additional, de Mello, M.P., additional, Marques-de-Faria, A.P., additional, Mazzola, T.N., additional, Guaragna, M.S., additional, Fabbri-Scallet, H., additional, Vieira, T.A.P., additional, Viguetti-Campos, N.L., additional, Morcillo, A.M., additional, Hiort, O., additional, Maciel-Guerra, A.T., additional, and Guerra-Junior, G., additional

Published
2022
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23. Endokrinologie

Author

Rascher, W., Ranke, M. B., Binder, G., Wollmann, H. A., Grüters, A., Kruse, K., Sippell, W. G., Hiort, O., Nitsche, E., Heinze, E., Lentze, Michael J., editor, Schaub, Jürgen, editor, Schulte, Franz J., editor, and Spranger, Jürgen, editor

Published
2001
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24. Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action ‘DSDnet’ and European Reference Network on Rare Endocrine Conditions

Author

Johannsen, T.H., Andersson, A.M., Ahmed, S.F., Rijke, Y.B. de, Greaves, R.F., Hartmann, M.F., Hiort, O., Holterhus, P.M., Krone, N.P., Kulle, A., Ljubicic, M.L., Mastorakos, G., McNeilly, J., Pereira, A.M., Saba, A., Wudy, S.A., Main, K.M., Juul, A., Working Group 3 H, Work Package 5 Diag, and Clinical Chemistry

Subjects
Anti-Mullerian Hormone, Male, medicine.medical_specialty, Peptide Hormones, Endocrinology, Diabetes and Metabolism, Disorders of Sex Development, 030209 endocrinology & metabolism, Context (language use), Physical examination, Peptide hormone, Bioinformatics, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Endocrinology, SDG 3 - Good Health and Well-being, Tandem Mass Spectrometry, Internal medicine, medicine, Humans, Endocrine system, Inhibins, Cost action, Immunoassay, medicine.diagnostic_test, business.industry, Network on, Disease Management, General Medicine, Luteinizing Hormone, Reference Standards, Europe, 030220 oncology & carcinogenesis, Practice Guidelines as Topic, Position paper, Female, Follicle Stimulating Hormone, business, Chromatography, Liquid, Hormone
Abstract

Differences of Sex Development (DSD) comprise a variety of congenital conditions characterized by atypical chromosomal, gonadal, or anatomical sex. Diagnosis and monitoring of treatment of patients suspected of DSD conditions include clinical examination, measurement of peptide and steroid hormones, and genetic analysis. This position paper on peptide hormone analyses in the diagnosis and control of patients with DSD was jointly prepared by specialists in the field of DSD and/or peptide hormone analysis from the European Cooperation in Science and Technology (COST) Action DSDnet (BM1303) and the European Reference Network on rare Endocrine Conditions (Endo-ERN). The goal of this position paper on peptide hormone analysis was to establish laboratory guidelines that may contribute to improve optimal diagnosis and treatment control of DSD. The essential peptide hormones used in the management of patients with DSD conditions are follicle-stimulating hormone, luteinising hormone, anti-Müllerian hormone, and Inhibin B. In this context, the following position statements have been proposed: serum and plasma are the preferred matrices; the peptide hormones can all be measured by immunoassay, while use of LC-MS/MS technology has yet to be implemented in a diagnostic setting; sex- and age-related reference values are mandatory in the evaluation of these hormones; and except for Inhibin B, external quality assurance programs are widely available.

Published
2020
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26. Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

Author

Eggermann T., Elbracht M., Kurth I., Juul A., Johannsen T. H., Netchine I., Mastorakos G., Johannsson G., Musholt T. J., Zenker M., Prawitt D., Pereira A. M., Hiort O., Stefan Riedl, Birgit Rami-Merhar, Greisa Vila, Sabina Baumgartner-Parzner, Walter Bonfig, Claudine Heinrichs, Dominique Maiter, Inge Gies, Martine Cools, Kristina Casteels, Albert Beckers, Sabina Zacharieva, Violeta Iotova, Tomislav Jukic, Dario Rahelic, Vassos Neocleous, Leonidas Phylactou, Michal Krsek, Jan Lebl, Claus Gravholt, Anders Juul, Vallo Tillmann, Vallo Volke, Tapani Ebeling, Thierry Brue, Patrice Rodien, Jérôme Bertherat, Christine Poitou Bernert, Philippe Touraine, Philippe Chanson, Michel Polak, Maithe Tauber, Thomas Eggermann, Joachim Spranger, Dagmar Fuhrer, Thomas Danne, Olaf Hiort, Klaus Mohnike, Dirk Prawitt, Markus Luster, Nicole Reisch, Martin Reincke, Julia Rohayem, Martin Fassnacht, Miklós Tóth, Alessandra Cassio, Sonia Toni, Csilla Krausz, Barbara Piccini, Diego Ferone, Gianni Russo, Luca Persani, Annamaria Colao, Mariacarolina Salerno, Marco Boscaro, Carla Scaroni, Ferruccio Santini, Giovanni Ceccarini, Ezio Ghigo, Iveta Dzivite-Krisane, Vita Rovite, Lauma Janozola, Rasa Verkauskiene, Michael Witsch, James Clark, Johannes Romijn, Thera Links, Nienke Biermasz, Sabine Hannema, Bas Havekes, Hedi Claahsen-van der Grinten, Henri Timmers, Robin Peeters, Gerlof Valk, A A Verrijn Stuart, Harm Haak, Eystein Husebye, Jens Bollerslev, Barbara Jarzab, Agnieszka 'Szypowska, João-Filipe Raposo, Dana Craiu, Doina Piciu, Ludmila Kostalova, Jarmila Vojtková, Tadej Battelino, Roque Cardona-Hernandez, Diego Yeste, Sonia Gaztambide, Anna Nordenström, Neil Gittoes, Trevor Cole, Elizabeth Crowne, Faisal Ahmed, Mohammed Didi, Marta Korbonits, Mehul Dattani, Peter Clayton, Justin Davies, Eggermann, T., Elbracht, M., Kurth, I., Juul, A., Johannsen, T. H., Netchine, I., Mastorakos, G., Johannsson, G., Musholt, T. J., Zenker, M., Prawitt, D., Pereira, A. M., Hiort, O, Salerno, M, Clinical sciences, Growth and Development, Pediatrics, Eggermann T., Elbracht M., Kurth I., Juul A., Johannsen T.H., Netchine I., Mastorakos G., Johannsson G., Musholt T.J., Zenker M., Prawitt D., Pereira A.M., and Hiort O., Stefan Riedl, Birgit Rami-Merhar, Greisa Vila, Sabina Baumgartner-Parzner, Walter Bonfig, Claudine Heinrichs, Dominique Maiter, Inge Gies, Martine Cools, Kristina Casteels, Albert Beckers, Sabina Zacharieva, Violeta Iotova, Tomislav Jukic, Dario Rahelic, Vassos Neocleous, Leonidas Phylactou, Michal Krsek, Jan Lebl, Claus Gravholt, Anders Juul, Vallo Tillmann, Vallo Volke, Tapani Ebeling, Thierry Brue, Patrice Rodien, Jérôme Bertherat, Christine Poitou Bernert, Philippe Touraine, Philippe Chanson, Michel Polak, Maithe Tauber, Thomas Eggermann, Joachim Spranger, Dagmar Fuhrer, Thomas Danne, Olaf Hiort, Klaus Mohnike, Dirk Prawitt, Markus Luster, Nicole Reisch, Martin Reincke, Julia Rohayem, Martin Fassnacht, Miklós Tóth, Alessandra Cassio, Sonia Toni, Csilla Krausz, Barbara Piccini, Diego Ferone, Gianni Russo, Luca Persani, Annamaria Colao, Mariacarolina Salerno, Marco Boscaro, Carla Scaroni, Ferruccio Santini, Giovanni Ceccarini, Ezio Ghigo, Iveta Dzivite-Krisane, Vita Rovite, Lauma Janozola, Rasa Verkauskiene, Michael Witsch, James Clark, Johannes Romijn, Thera Links, Nienke Biermasz, Sabine Hannema, Bas Havekes, Hedi Claahsen-van der Grinten, Henri Timmers, Robin Peeters, Gerlof Valk, A A Verrijn Stuart, Harm Haak, Eystein Husebye, Jens Bollerslev, Barbara Jarzab, Agnieszka 'Szypowska, João-Filipe Raposo, Dana Craiu, Doina Piciu, Ludmila Kostalova, Jarmila Vojtková, Tadej Battelino, Roque Cardona-Hernandez, Diego Yeste, Sonia Gaztambide, Anna Nordenström, Neil Gittoes, Trevor Cole, Elizabeth Crowne, Faisal Ahmed, Mohammed Didi, Marta Korbonits, Mehul Dattani, Peter Clayton, Justin Davies

Subjects
0301 basic medicine, Genetic testing, disorders of sex development, PREDICTION, lcsh:Medicine, CHILDREN, Review, VARIANTS, Hypogonadotropic hypogonadism, Imprinting disorder, 0302 clinical medicine, Pharmacology (medical), Genetics (clinical), Imprinting disorders, Rare endocrine conditions, Short stature - glucose and insulin homeostasis - Hypogonadotropic hypogonadism - differences/disorders of sex development, Medicine(all), RISK, medicine.diagnostic_test, CHALLENGES, differences, High-Throughput Nucleotide Sequencing, General Medicine, genetic testing, Imprinting disorders, Rare endocrine conditions, Short stature, glucose and insulin homeostasis, Hypogonadotropic hypogonadism, disorders of sex development, Mutation (genetic algorithm), Rare endocrine condition, Identification (biology), Genetic counseling, 030209 endocrinology & metabolism, Computational biology, DIAGNOSIS, Endocrine System Diseases, differences/disorders of sex development, 03 medical and health sciences, Rare Diseases, BECKWITH-WIEDEMANN SYNDROME, medicine, MANAGEMENT, Endocrine system, Humans, business.industry, Network on, lcsh:R, glucose and insulin homeostasis, Human genetics, Short stature, 030104 developmental biology, Mutation, Position paper, business, Short stature - glucose and insulin homeostasis
Abstract

Orphanet journal of rare diseases: OJRD 15(1), 144 (2020). doi:10.1186/s13023-020-01420-w, Published by BioMed Central, London

Published
2020
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36. Patients with rare endocrine conditions have corresponding views on unmet needs in clinical research

Author

de Graaf, J., de Vries, F., Dirkson, A., Hiort, O., Pereira, A.M., Korbonits, M., Cools, Martine, and Res Sci Work Package Endo-ERN, [missing]

Subjects
medicine.medical_specialty, Inequality, Endocrinology, Diabetes and Metabolism, media_common.quotation_subject, 030209 endocrinology & metabolism, Fertility, Disease, Endocrine System Diseases, Patient perspective, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Rare Diseases, Endocrinology, Surveys and Questionnaires, Medicine and Health Sciences, Medicine, Endocrine system, Humans, 030212 general & internal medicine, media_common, business.industry, Research, Europe, Clinical research, Work (electrical), Family medicine, Quality of Life, Endo-ERN, Original Article, business, Rare disease
Abstract

Purpose European Reference Network on Rare Endocrine Conditions' (Endo-ERN) mission is to reduce and ultimately abolish inequalities in care for patients with rare endocrine conditions in Europe. This study assesses which themes related to rare endocrine conditions are prioritized by patients for clinical research. Methods A survey was developed, translated into 22 different European languages, and distributed to patients with rare endocrine conditions. Patients were asked to give priority scores to listed prespecified topics: fertility, heritability, tiredness, daily medicine intake, sleep quality, physical discomfort, and ability to work, partake in social life, and sports. They were also asked to suggest further important areas for research in open fields. Results After data cleaning, 1378 survey responses were analyzed. Most responses were received from Northern (47%) and Western Europeans (39%), while Southern (11%) and Eastern Europe (2%) were underrepresented. Respondents were most interested in research concerning ability to participate in social life and work. Patients suggested key areas to work: long-term side effects of medical treatments and quality of life. Some priorities differed between disease groups, both for prespecified and open topics and reflected aspects of patients’ individual conditions. Conclusions With this large survey, Endo-ERN gained insight into patients’ unmet needs in scientific research. Patients prioritized research on ability to work and participation in social activities, though needs differ between the disease groups. Clinical experts should incorporate the results of this survey into the design of future studies on rare endocrine conditions. We aim to utilize these results in designing patient-reported outcome measures for the disease areas covered by Endo-ERN.

Published
2021

38. Gonadectomy in conditions affecting sex development: a registry-based cohort study

Author

Lucas-Herald, A.K., Bryce, J., Kyriakou, A., Ljubicic, M.L., Arlt, W., Audi, L., Balsamo, A., Baronio, F., Bertelloni, S., Bettendorf, M., Brooke, A., Claahsen-van der Grinten, H.L., Davies, J.H., Hermann, G., Vries, L. de, Hughes, I.A., Tadokoro-Cuccaro, R., Darendeliler, F., Poyrazoglu, S., Ellaithi, M., Evliyaoglu, O., Fica, S., Nedelea, L., Gawlik, A., Globa, E., Zelinska, N., Guran, T., Güven, A., Hannema, S.E., Hiort, O., Holterhus, P.M., Iotova, V., Mladenov, V., Jain, V., Sharma, R., Jennane, F., Johnston, C., Junior, G. Guerra, Konrad, D., Gaisl, O., Krone, N., Krone, R., Lachlan, K., Li, D., Lichiardopol, C., Lisa, L., Markosyan, R., Mazen, I., Mohnike, K., Niedziela, M., Nordenstrom, A., Rey, R., Skaeil, M., Tack, L.J.W., Tomlinson, J., Weintrob, N., Cools, M., Ahmed, S.F., Lucas-Herald, A.K., Bryce, J., Kyriakou, A., Ljubicic, M.L., Arlt, W., Audi, L., Balsamo, A., Baronio, F., Bertelloni, S., Bettendorf, M., Brooke, A., Claahsen-van der Grinten, H.L., Davies, J.H., Hermann, G., Vries, L. de, Hughes, I.A., Tadokoro-Cuccaro, R., Darendeliler, F., Poyrazoglu, S., Ellaithi, M., Evliyaoglu, O., Fica, S., Nedelea, L., Gawlik, A., Globa, E., Zelinska, N., Guran, T., Güven, A., Hannema, S.E., Hiort, O., Holterhus, P.M., Iotova, V., Mladenov, V., Jain, V., Sharma, R., Jennane, F., Johnston, C., Junior, G. Guerra, Konrad, D., Gaisl, O., Krone, N., Krone, R., Lachlan, K., Li, D., Lichiardopol, C., Lisa, L., Markosyan, R., Mazen, I., Mohnike, K., Niedziela, M., Nordenstrom, A., Rey, R., Skaeil, M., Tack, L.J.W., Tomlinson, J., Weintrob, N., Cools, M., and Ahmed, S.F.

Abstract

Contains fulltext : 234031.pdf (Publisher’s version ) (Open Access), OBJECTIVES: To determine trends in clinical practice for individuals with DSD requiring gonadectomy. DESIGN: Retrospective cohort study. METHODS: Information regarding age at gonadectomy according to diagnosis; reported sex; time of presentation to specialist centre; and location of centre from cases reported to the International DSD Registry and who were over 16 years old in January 2019. RESULTS: Data regarding gonadectomy were available in 668 (88%) individuals from 44 centres. Of these, 248 (37%) (median age (range) 24 (17, 75) years) were male and 420 (63%) (median age (range) 26 (16, 86) years) were female. Gonadectomy was reported from 36 centres in 351/668 cases (53%). Females were more likely to undergo gonadectomy (n = 311, P < 0.0001). The indication for gonadectomy was reported in 268 (76%). The most common indication was mitigation of tumour risk in 172 (64%). Variations in the practice of gonadectomy were observed; of the 351 cases from 36 centres, 17 (5%) at 9 centres had undergone gonadectomy before their first presentation to the specialist centre. Median age at gonadectomy of cases from high-income countries and low-/middle-income countries (LMIC) was 13.0 years (0.1, 68) years and 16.5 years (1, 28), respectively (P < 0.0001) with the likelihood of long-term retention of gonads being higher in LMIC countries. CONCLUSIONS: The likelihood of gonadectomy depends on the underlying diagnosis, sex of rearing and the geographical setting. Clinical benchmarks, which can be studied across all forms of DSD will allow a better understanding of the variation in the practice of gonadectomy.

Published
2021

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