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4 results on '"Ljubicic, M.L."'

1. 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

2. 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

3. Peptide hormone analysis in diagnosis and treatment of differences of sex development: Joint position paper of EU cost action 'SDnet' and european reference network on rare endocrine conditions

Author

Johannsen, T.H. Andersson, A.-M. Ahmed, S.F. De Rijke, Y.B. 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 'Harmonisation of Laboratory Assessment' of the European Cooperation in Science Technology (COST) Action BM1303 'DSDnet' Work Package 5 'Diagnostics Laboratory Analysis' of the European Reference Network on Rare Endocrine Conditions

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 analys is 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. © 2020 European Society of Endocrinology Printed in Great Britain.

Published
2020

4. The External Genitalia Score (EGS): A European Multicenter Validation Study

Author

van der Straaten, S. (Saskia), Springer, A. (Alexander), Zecic, A. (Alexandra), Hebenstreit, D. (Doris), Tonnhofer, U. (Ursula), Gawlik, A. (Aneta), Baumert, M. (Malgorzata), Szeliga, K. (Kamila), Debulpaep, S. (Sara), Desloovere, A. (An), Tack, L. (Lloyd), Smets, K. (Koen), Wasniewska, M. (Malgorzata), Corica, D. (Domenico), Calafiore, M. (Mariarosa), Ljubicic, M.L. (Marie Lindhardt), Busch, A.S. (Alexander Siegfried), Juul, A. (Anders), Nordenström, A. (Anna), Sigurdsson, J. (Jon), Flück, C. (Christa), Haamberg, T. (Tanja), Graf, S. (Stefanie), Hannema, S.E. (Sabine), Wolffenbuttel, K.P. (Katja), Hiort, O. (Olaf), Ahmed, S.F. (Sayed), Cools, M.B.C.M. (Martine), van der Straaten, S. (Saskia), Springer, A. (Alexander), Zecic, A. (Alexandra), Hebenstreit, D. (Doris), Tonnhofer, U. (Ursula), Gawlik, A. (Aneta), Baumert, M. (Malgorzata), Szeliga, K. (Kamila), Debulpaep, S. (Sara), Desloovere, A. (An), Tack, L. (Lloyd), Smets, K. (Koen), Wasniewska, M. (Malgorzata), Corica, D. (Domenico), Calafiore, M. (Mariarosa), Ljubicic, M.L. (Marie Lindhardt), Busch, A.S. (Alexander Siegfried), Juul, A. (Anders), Nordenström, A. (Anna), Sigurdsson, J. (Jon), Flück, C. (Christa), Haamberg, T. (Tanja), Graf, S. (Stefanie), Hannema, S.E. (Sabine), Wolffenbuttel, K.P. (Katja), Hiort, O. (Olaf), Ahmed, S.F. (Sayed), and Cools, M.B.C.M. (Martine)

Abstract

CONTEXT: Standardized description of external genitalia is needed in the assessment of children with atypical genitalia. OBJECTIVES: To validate the External Genitalia Score (EGS), to present reference values for preterm and term babies up to 24 months and correlate obtained scores with anogenital distances (AGDs). DESIGN, SETTING: A European multicenter (n = 8) validation study was conducted from July 2016 to July 2018. PATIENTS AND METHODS: EGS is based on the external masculinization score but uses a gradual scale from female to male (range, 0-12) and terminology appropriate for both sexes. The reliability of EGS and AGDs was determined by the interclass correlation coefficient (ICC). Cross-sectional data were obtained in 686 term babies (0-24 months) and 181 preterm babies, and 111 babies with atypical genitalia. RESULTS: The ICC of EGS in typical and atypical genitalia is excellent and good, respectively. Median EGS (10th to 90th centile) in males < 28 weeks gestation is 10 (8.6-11.5); in males 28-32 weeks 11.5 (9.2-12); in males 33-36 weeks 11.5 (10.5-12) and in full-term males 12 (10.5-12). In all female babies, EGS is 0 (0-0). The mean (SD) lower/upper AGD ratio (AGDl/u) is 0.45 (0.1), with significant difference between AGDl/u in males 0.49 (0.1) and females 0.39 (0.1) and intermediate values in differences of sex development (DSDs) 0.43 (0.1). The AGDl/u correlates with EGS in males with typical genitalia and in atypical genitalia. CONCLUSIONS: EGS is a reliable and valid tool to describe external genitalia in premature and term babies up to 24 months. EGS correlates with AGDl/u in males. It facilitates standardized assessment, clinical decision-making and multicenter research.

Published
2020
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