The Experts below are selected from a list of 486 Experts worldwide ranked by ideXlab platform
Peter Wieacker - One of the best experts on this subject based on the ideXlab platform.
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bmp15 mutations in XX Gonadal Dysgenesis and premature ovarian failure
American Journal of Obstetrics and Gynecology, 2008Co-Authors: Susanne Ledig, Albrecht Ropke, Gabriele Haeusler, B Hinney, Peter WieackerAbstract:Objective Premature ovarian failure (POF) is a heterogeneous group of diseases with amenorrhea before the age of 40 years and elevated gonadotropins. Recently, heterozygous mutations in the X-linked gene encoding bone morphogenetic protein-15 (BMP15) have been identified as a possible cause of ovarian failure. Study Design Molecular analysis of BMP15, growth differentiation factor-9 (GDF9), and follicle-stimulating hormone receptor (FSHR) in patients with ovarian failure. Results We can show that a BMP15 alteration, previously described as a mutation, is instead a polymorphism. A digenic inheritance of POF including BMP15 and FSHR is unlikely. Mutations in GDF9 could not be detected. Conclusion Caution is recommended in the interpretation of BMP15 mutations in the context of POF.
Thyen Ute - One of the best experts on this subject based on the ideXlab platform.
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design, methodology, recruitment, data quality and study population
2017Co-Authors: Roehle Robert, Gehrmann Katharina, Szarras-czapnik Maria, Claahsen-van Der Grinten Hedi, Pienkowski Catherine, Bouvattier Claire, Cohen-kettenis Peggy, Nordenstrom Anna, Thyen UteAbstract:Background dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired Gonadal or adrenal functionality. Methods/Design The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants’ views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes. In addition, ethical considerations in the field of DSD are addressed and previous experiences with health care were gathered. One thousand and forty participants with different DSD conditions were recruited by 14 study centres in 6 European countries (France, Germany, the Netherlands, Poland, Sweden and the United Kingdom) from February 2014 until September 2015. The conditions included were: Turner syndrome (n = 301); 45,X0/46,XY conditions (n = 45); Klinefelter syndrome (n = 218); 47,XYY (n = 1); 46,XY Gonadal Dysgenesis/ovotestes (n = 63); complete androgen insensitivity (CAIS) (n = 71); partial androgen insensitivity (PAIS) (n = 35) and androgen synthesis disorders (n = 20); severe hypospadias (n = 25); other or non-classified 46,XY DSD (n = 8); 46,XX congenital adrenal hyperplasia (CAH) (n = 226); 46,XX Gonadal Dysgenesis/ovotestis (n = 21); and 46,XX in males (n = 6). For an add-on study, 121 46,XY male-assigned individuals with CAH due to 21-hydroxylase deficiency were recruited. Mean age of participants’ was 32.4 (+/− 13.6 years). Discussion Participation was high in conditions not commonly described as DSD, such as Turner and Klinefelter syndromes or CAH. Recruitment of individuals with XY DSD conditions proved to be more difficult. The data collection of PROs resulted in high data quality. Within medical and physical examination data, more missings and/or inaccurate data were found than expected. The European dsd-LIFE study recruited and evaluated the largest cross-sectional sample of individuals with different conditions classified under the term DSD. The data from this large sample will provide a sufficient basis for evidence-based recommendations for improvement of clinical care of individuals affected by a DSD condition. Trial registration German Clinical Trials Register DRKS00006072
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Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population
'Springer Science and Business Media LLC', 2017Co-Authors: Röhle Robert, Gehrmann Katharina, Szarras-czapnik Maria, Pienkowski Catherine, Bouvattier Claire, Cohen-kettenis Peggy, Nordenstrom Anna, Thyen Ute, Grinten Hedi, Köhler BirgitAbstract:International audienceBACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired Gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes. In addition, ethical considerations in the field of DSD are addressed and previous experiences with health care were gathered. One thousand and forty participants with different DSD conditions were recruited by 14 study centres in 6 European countries (France, Germany, the Netherlands, Poland, Sweden and the United Kingdom) from February 2014 until September 2015. The conditions included were: Turner syndrome (n~=~301); 45,X0/46,XY conditions (n~=~45); Klinefelter syndrome (n~=~218); 47,XYY (n~=~1); 46,XY Gonadal Dysgenesis/ovotestes (n~=~63); complete androgen insensitivity (CAIS) (n~=~71); partial androgen insensitivity (PAIS) (n~=~35) and androgen synthesis disorders (n~=~20); severe hypospadias (n~=~25); other or non-classified 46,XY DSD (n~=~8); 46,XX congenital adrenal hyperplasia (CAH) (n~=~226); 46,XX Gonadal Dysgenesis/ovotestis (n~=~21); and 46,XX in males (n~=~6). For an add-on study, 121 46,XY male-assigned individuals with CAH due to 21-hydroxylase deficiency were recruited. Mean age of participants' was 32.4 (+/- 13.6~years). DISCUSSION: Participation was high in conditions not commonly described as DSD, such as Turner and Klinefelter syndromes or CAH. Recruitment of individuals with XY DSD conditions proved to be more difficult. The data collection of PROs resulted in high data quality. Within medical and physical examination data, more missings and/or inaccurate data were found than expected. The European dsd-LIFE study recruited and evaluated the largest cross-sectional sample of individuals with different conditions classified under the term DSD. The data from this large sample will provide a sufficient basis for evidence-based recommendations for improvement of clinical care of individuals affected by a DSD condition. TRIAL REGISTRATION: German Clinical Trials Register DRKS00006072
R Cruzcoke - One of the best experts on this subject based on the ideXlab platform.
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pure XX Gonadal Dysgenesis in identical twins
Clinical Genetics, 2008Co-Authors: Ronald Youlton, H Michelsen, R CruzcokeAbstract:Pure Gonadal Dysgenesis has been described in several sibships. We report a pair of monozygous twins and their younger sister with secondary amenorrhea. They had no associated congenital anomalies. Plasma FSH levels were elevated and the ovarian biopsies showed absence of follicular structures. Their karyotypes were 46XX, further supporting the concept that this form of familial Gonadal Dysgenesis is an autosomal recessive defect.
Köhler Birgit - One of the best experts on this subject based on the ideXlab platform.
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Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population
'Springer Science and Business Media LLC', 2017Co-Authors: Röhle Robert, Gehrmann Katharina, Szarras-czapnik Maria, Pienkowski Catherine, Bouvattier Claire, Cohen-kettenis Peggy, Nordenstrom Anna, Thyen Ute, Grinten Hedi, Köhler BirgitAbstract:International audienceBACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired Gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes. In addition, ethical considerations in the field of DSD are addressed and previous experiences with health care were gathered. One thousand and forty participants with different DSD conditions were recruited by 14 study centres in 6 European countries (France, Germany, the Netherlands, Poland, Sweden and the United Kingdom) from February 2014 until September 2015. The conditions included were: Turner syndrome (n~=~301); 45,X0/46,XY conditions (n~=~45); Klinefelter syndrome (n~=~218); 47,XYY (n~=~1); 46,XY Gonadal Dysgenesis/ovotestes (n~=~63); complete androgen insensitivity (CAIS) (n~=~71); partial androgen insensitivity (PAIS) (n~=~35) and androgen synthesis disorders (n~=~20); severe hypospadias (n~=~25); other or non-classified 46,XY DSD (n~=~8); 46,XX congenital adrenal hyperplasia (CAH) (n~=~226); 46,XX Gonadal Dysgenesis/ovotestis (n~=~21); and 46,XX in males (n~=~6). For an add-on study, 121 46,XY male-assigned individuals with CAH due to 21-hydroxylase deficiency were recruited. Mean age of participants' was 32.4 (+/- 13.6~years). DISCUSSION: Participation was high in conditions not commonly described as DSD, such as Turner and Klinefelter syndromes or CAH. Recruitment of individuals with XY DSD conditions proved to be more difficult. The data collection of PROs resulted in high data quality. Within medical and physical examination data, more missings and/or inaccurate data were found than expected. The European dsd-LIFE study recruited and evaluated the largest cross-sectional sample of individuals with different conditions classified under the term DSD. The data from this large sample will provide a sufficient basis for evidence-based recommendations for improvement of clinical care of individuals affected by a DSD condition. TRIAL REGISTRATION: German Clinical Trials Register DRKS00006072
Birgit Köhler - One of the best experts on this subject based on the ideXlab platform.
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Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population
BMC Endocrine Disorders, 2017Co-Authors: Robert Röhle, Katharina Gehrmann, Maria Szarras-czapnik, Hedi Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-kettenis, Anna Nordenström, Ute Thyen, Birgit KöhlerAbstract:BACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired Gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes. In addition, ethical considerations in the field of DSD are addressed and previous experiences with health care were gathered. One thousand and forty participants with different DSD conditions were recruited by 14 study centres in 6 European countries (France, Germany, the Netherlands, Poland, Sweden and the United Kingdom) from February 2014 until September 2015. The conditions included were: Turner syndrome (n~=~301); 45,X0/46,XY conditions (n~=~45); Klinefelter syndrome (n~=~218); 47,XYY (n~=~1); 46,XY Gonadal Dysgenesis/ovotestes (n~=~63); complete androgen insensitivity (CAIS) (n~=~71); partial androgen insensitivity (PAIS) (n~=~35) and androgen synthesis disorders (n~=~20); severe hypospadias (n~=~25); other or non-classified 46,XY DSD (n~=~8); 46,XX congenital adrenal hyperplasia (CAH) (n~=~226); 46,XX Gonadal Dysgenesis/ovotestis (n~=~21); and 46,XX in males (n~=~6). For an add-on study, 121 46,XY male-assigned individuals with CAH due to 21-hydroxylase deficiency were recruited. Mean age of participants' was 32.4 (+/- 13.6~years). DISCUSSION: Participation was high in conditions not commonly described as DSD, such as Turner and Klinefelter syndromes or CAH. Recruitment of individuals with XY DSD conditions proved to be more difficult. The data collection of PROs resulted in high data quality. Within medical and physical examination data, more missings and/or inaccurate data were found than expected. The European dsd-LIFE study recruited and evaluated the largest cross-sectional sample of individuals with different conditions classified under the term DSD. The data from this large sample will provide a sufficient basis for evidence-based recommendations for improvement of clinical care of individuals affected by a DSD condition. TRIAL REGISTRATION: German Clinical Trials Register DRKS00006072 .
