Karyotype - Phenotype Associations in Patients with Turner Syndrome.

Autor:	Noordman ID; Department of Pediatric Endocrinology, Amalia Children's Hospital, Radboud university medical centre, Nijmegen, The Netherlands., van der Velden JA; Department of Pediatric Endocrinology, Amalia Children's Hospital, Radboud university medical centre, Nijmegen, The Netherlands., Timmers HJ; Department of Internal Medicine, Radboud university medical centre, Nijmegen, The Netherlands., Pienkowski C; Reference center for rare gynecological pathologies, Children Hospital, Toulouse, France., Köhler B; Klinik für Pädiatrische Endokrinologie und Diabetologie, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany., Kempers M; Department of Human Genetics, Radboud university medical centre, Nijmegen, The Netherlands., Reisch N; Department of endocrinology, Medizinische Klinik IV, Klinikum der Universität München, München, Germany., Richter-Unruh A; Kinderendokrinologie und Diabetologie, Universitätsklinikum Ruhr-Universität Bochum, Kinderklinik, Bochum, Germany., Arlt W; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, United Kingdom of Great Britain and Northern Ireland., Nordenström A; Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden., Webb EA; Norfolk and Norwich University Hospital, Norwich, United Kingdom of Great Britain and Northern Ireland., Roeleveld N; Department for Health Evidence, Radboud university medical centre, Nijmegen, The Netherlands., Claahsen-van der Grinten HL; Department of Pediatric Endocrinology, Amalia Children's Hospital, Radboud university medical centre, Nijmegen, The Netherlands, E-mail: hedi.claahsen@radboudumc.nl.
Jazyk:	angličtina
Zdroj:	Pediatric endocrinology reviews : PER [Pediatr Endocrinol Rev] 2019 Apr; Vol. 16 (4), pp. 431-440.
DOI:	10.17458/per.vol16.2019.nvt.karyotypeturnersyndrome
Abstrakt:	Variation in karyotype may be associated with the phenotype of patients with Turner syndrome (TS). Our objective was to identify these associations between karyotype and phenotype in TS patients. This study was part of the European multicentre dsd-LIFE study. We evaluated the associations between different karyotypes of TS patients and age at diagnosis, Turner stigmata, cardiac/renal involvement and gonadal function. Information was available for 328 TS patients. Participants had a monosomy 45,X (46%), mosaicism 45,X/46,XX (10%), karyotype with isochromosome (18%), or other karyotype (26%). The clinical signs of TS were the most severe in patients with monosomy 45,X and the least severe in patients with mosaicism 45,X/46,XX. Patients with isochromosome and y-material showed an intermediate phenotype. Despite the more severe features in patients with monosomy 45,X, the median age at diagnosis was only slightly lower compared to patients with other karyotypes, which suggests opportunities for improvement of knowledge and diagnostics. (Copyright© of YS Medical Media ltd.)
Databáze:	MEDLINE
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