Temat: "Gonadal Dysgenesis, Mixed" - OpacWWW

Skocz do pozycji: 1 1.

Tytuł :: Successful surgical sperm retrieval from a patient with 45,X/46,XY mosaicism followed by in vitro fertilization pregnancy: A case report.
Autorzy :: Zhang Y; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research.; Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University.; Key Laboratory of Tropical Translational Medicine of Ministry of Education, Hainan Medical University, Haikou, Hainan.
Liu Z; College of Medical Laboratory Science, Guilin Medical University, Guilin, Guangxi.
Ou J; Center of Reproduction and Genetics, Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu, China.
Zhang LX; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research.; Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University.; Key Laboratory of Tropical Translational Medicine of Ministry of Education, Hainan Medical University, Haikou, Hainan.
Lu WY; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research.; Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University.; Key Laboratory of Tropical Translational Medicine of Ministry of Education, Hainan Medical University, Haikou, Hainan.
Li Q; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research.; Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University.; Key Laboratory of Tropical Translational Medicine of Ministry of Education, Hainan Medical University, Haikou, Hainan.
Ma Y; Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research.; Hainan Provincial Clinical Research Center for Thalassemia, The First Affiliated Hospital of Hainan Medical University.; Key Laboratory of Tropical Translational Medicine of Ministry of Education, Hainan Medical University, Haikou, Hainan.; Pokaż więcej
Źródło :: Medicine [Medicine (Baltimore)] 2020 Oct 02; Vol. 99 (40), pp. e22223.
Typ publikacji :: Case Reports; Journal Article
MeSH Terms :: Gonadal Dysgenesis, Mixed/*genetics
Sperm Injections, Intracytoplasmic/*methods
Adult ; Female ; Gonadal Dysgenesis, Mixed/complications ; Gonadal Dysgenesis, Mixed/diagnosis ; Humans ; Infertility, Male/etiology ; Male ; Mosaicism ; Pregnancy ; Pregnancy Outcome ; Sperm Retrieval
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 2 2.

Tytuł :: A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome.
Autorzy :: Chand MT; Department of Pathology, Ascension St John Hospital, Detroit, Michigan.
Turner S; Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan.
Solomon LA; Gynecologic Oncology, Ascension St John Hospital, Detroit, Michigan.
Jay A; Cancer Genetics Department, Ascension St John Hospital, Detroit, Michigan.
Rabah R; Department of Pathology, University of Michigan, Ann Arbor, Michigan.
Misra VK; Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan. Electronic address: .; Pokaż więcej
Źródło :: Journal of pediatric and adolescent gynecology [J Pediatr Adolesc Gynecol] 2020 Oct; Vol. 33 (5), pp. 577-580. Date of Electronic Publication: 2020 Jun 19.
Typ publikacji :: Case Reports
MeSH Terms :: Gonadal Dysgenesis, Mixed/*genetics
Adolescent ; Diagnosis, Differential ; Female ; Gonadal Dysgenesis, 46,XY/diagnosis ; Gonadal Dysgenesis, Mixed/diagnosis ; Humans ; Mosaicism ; Phenotype
: Raport

Szczegóły

Skocz do pozycji: 3 3.

Tytuł :: Early Bilateral Gonadoblastoma Associated With 45,X/46,XY Mosaicism: The Spectrum of Undifferentiated Gonadal Tissue and Gonadoblastoma in the First Months of Life.
Autorzy :: Berklite L; 1 Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
Witchel SF; 2 Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
Yatsenko SA; 3 Magee Womens Hospital, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
Schneck FX; 2 Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.
Reyes-Múgica M; 2 Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania.; Pokaż więcej
Źródło :: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society [Pediatr Dev Pathol] 2019 Jul-Aug; Vol. 22 (4), pp. 380-385. Date of Electronic Publication: 2019 Jan 15.
Typ publikacji :: Case Reports; Journal Article
MeSH Terms :: Disorders of Sex Development/*diagnosis
Gonadal Dysgenesis, Mixed/*diagnosis
Gonadoblastoma/*diagnosis
Disorders of Sex Development/genetics ; Disorders of Sex Development/pathology ; Female ; Gonadal Dysgenesis, Mixed/genetics ; Gonadal Dysgenesis, Mixed/pathology ; Gonadoblastoma/genetics ; Gonadoblastoma/pathology ; Humans ; Infant, Newborn ; Karyotype ; Male ; Mosaicism
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 4 4.

Tytuł :: The Dilemma of Sex of Rearing: A Case of a 45,X/46,XY Neonate with Hydrocolpos.
Autorzy :: Pesmatzoglou M; First Department of Pediatrics, Faculty of Medicine, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece. Electronic address: .
Kanaka-Gantenbein C; First Department of Pediatrics, Faculty of Medicine, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.
Dermentzoglou V; Department of Radiology, 'Aghia Sophia' Children's Hospital, Athens, Greece.
Voutetakis A; First Department of Pediatrics, Faculty of Medicine, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.
Nikaina I; First Department of Pediatrics, Faculty of Medicine, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.
Skiathitou AV; First Department of Pediatrics, Faculty of Medicine, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.
Siahanidou T; First Department of Pediatrics, Faculty of Medicine, National and Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, Athens, Greece.; Pokaż więcej
Źródło :: Journal of pediatric and adolescent gynecology [J Pediatr Adolesc Gynecol] 2019 Feb; Vol. 32 (1), pp. 70-73. Date of Electronic Publication: 2018 Sep 08.
Typ publikacji :: Case Reports; Journal Article
MeSH Terms :: Gonadal Dysgenesis, Mixed/*diagnosis
Hydrocolpos/*etiology
Female ; Gender Identity ; Genitalia ; Gonadal Dysgenesis, Mixed/complications ; Gonadal Dysgenesis, Mixed/therapy ; Gonads ; Humans ; Infant, Newborn ; Male ; Mosaicism ; Sexual Development ; Ultrasonography/methods
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 5 5.

Tytuł :: Diagnosis of a Chinese man with 45,X/46,X,i(Y)(q10)/47,X,i(Y) (q10) ×2 mosaic Turner syndrome.
Autorzy :: Sha YW; Department of Reproductive Medicine, Maternal and Child Health Hospital of Xiamen, Xiamen 361005, China.
Ding L; Department of Reproductive Medicine, Maternal and Child Health Hospital of Xiamen, Xiamen 361005, China.
Ji ZY; Department of Reproductive Medicine, Maternal and Child Health Hospital of Xiamen, Xiamen 361005, China.
Ge YS; Genetics Laboratory, Maternal and Child Health Hospital of Xiamen, Xiamen 361005, China.
Kong H; Genetics Laboratory, Maternal and Child Health Hospital of Xiamen, Xiamen 361005, China.
Zhang Q; Department of Reproductive Medicine, Maternal and Child Health Hospital of Xiamen, Xiamen 361005, China.
Zhou YL; Genetics Laboratory, Maternal and Child Health Hospital of Xiamen, Xiamen 361005, China.
Li P; Department of Reproductive Medicine, Maternal and Child Health Hospital of Xiamen, Xiamen 361005, China.; Pokaż więcej
Źródło :: Asian journal of andrology [Asian J Androl] 2018 Mar-Apr; Vol. 20 (2), pp. 205-207.
Typ publikacji :: Case Reports; Letter
MeSH Terms :: Mosaicism*
Azoospermia/*diagnosis
Gonadal Dysgenesis, Mixed/*diagnosis
Infertility, Male/*diagnosis
Adult ; Azoospermia/genetics ; Follicle Stimulating Hormone/metabolism ; Gonadal Dysgenesis, Mixed/genetics ; Gonadal Dysgenesis, Mixed/metabolism ; Gonadal Dysgenesis, Mixed/pathology ; Growth Disorders/genetics ; Humans ; In Situ Hybridization, Fluorescence ; Infertility, Male/genetics ; Karyotype ; Luteinizing Hormone/metabolism ; Male ; Testis/pathology ; Testosterone/metabolism ; Turner Syndrome
: Raport

Szczegóły

Skocz do pozycji: 6 6.

Tytuł :: The Evaluation of Cases with Y-Chromosome Gonadal Dysgenesis: Clinical Experience over 18 Years.
Autorzy :: Berberoğlu M; Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey.
Şıklar Z; Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey.; Pokaż więcej
Corporate Authors :: Ankara University Dsd Ethic Committee; Includes all members from 1996 to 2017.
Źródło :: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2018 Mar 01; Vol. 10 (1), pp. 30-37. Date of Electronic Publication: 2017 Aug 21.
Typ publikacji :: Journal Article
MeSH Terms :: Gonadal Dysgenesis, 46,XY/*diagnosis
Gonadal Dysgenesis, Mixed/*diagnosis
Adolescent ; Adult ; Castration ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Gonadal Dysgenesis, 46,XY/genetics ; Gonadal Dysgenesis, 46,XY/surgery ; Gonadal Dysgenesis, Mixed/genetics ; Gonadal Dysgenesis, Mixed/surgery ; Humans ; Infant ; Infant, Newborn ; Male ; Retrospective Studies ; Young Adult
: Czasopismo naukowe

Szczegóły Pełny tekst

Skocz do pozycji: 7 7.

Tytuł :: Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis.
Autorzy :: Cunha SC; Divisão de Cirurgia Pediátrica, Departamento de Cirurgia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brasil.
Andrade JGR; Grupo Interdisciplinar de Estudos da Determinação e Diferenciação do Sexo (GIEDDS), Faculdade de Ciências Médicas, Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brasil.
Angelis CM; Departamento de Anatomia Patológica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brasil.
Billis A; Departamento de Anatomia Patológica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brasil.
Bustorff-Silva JM; Divisão de Cirurgia Pediátrica, Departamento de Cirurgia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brasil.
Maciel-Guerra AT; Grupo Interdisciplinar de Estudos da Determinação e Diferenciação do Sexo (GIEDDS), Faculdade de Ciências Médicas, Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brasil.; Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brasil.
Miranda ML; Divisão de Cirurgia Pediátrica, Departamento de Cirurgia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brasil.; Grupo Interdisciplinar de Estudos da Determinação e Diferenciação do Sexo (GIEDDS), Faculdade de Ciências Médicas, Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brasil.
Guerra-Júnior G; Grupo Interdisciplinar de Estudos da Determinação e Diferenciação do Sexo (GIEDDS), Faculdade de Ciências Médicas, Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brasil.; Departamento de Pediatria, Unidade de Endocrinologia Pediátrica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brasil.; Pokaż więcej
Źródło :: Archives of endocrinology and metabolism [Arch Endocrinol Metab] 2018; Vol. 62 (6), pp. 644-647.
Typ publikacji :: Case Reports
MeSH Terms :: Gonadal Dysgenesis, Mixed/*pathology
Gonadoblastoma/*pathology
Testicular Neoplasms/*pathology
Biopsy ; Female ; Gonadal Dysgenesis, Mixed/complications ; Gonadal Dysgenesis, Mixed/surgery ; Gonadoblastoma/etiology ; Gonadoblastoma/surgery ; Humans ; Infant ; Male ; Risk Factors ; Testicular Neoplasms/etiology ; Testicular Neoplasms/surgery ; Testis/pathology ; Treatment Outcome
: Raport

Szczegóły

Skocz do pozycji: 8 8.

Tytuł :: Observational study of disorders of sex development in Yaounde, Cameroon.
Autorzy :: Sap SNU; Mother and Child Center of the Chantal Biya Foundation of Yaounde, Faculty of Medicine and Biomedical Sciences of the University of Yaounde I, Yaounde, Cameroon, Phone: +237 677594797.
Mbono Betoko R; District Hospital of Nylon, Douala, Faculty of Medicine and Pharmaceutical Sciences of the University of Douala, Douala, Cameroon.
Etoa Etoga M; Central Hospital of Yaounde, Faculty of Medicine and Pharmaceutical Sciences of the University of Douala, Douala, Cameroon.
Mure PY; Hospices civils de Lyon, Hôpital Femme Mère Enfant, Chirurgie Pédiatrique, Lyon, France.
Morel Y; Hospices Civils de Lyon, GH Est, Centre de Biologie et Pathologie, Lyon, France.
Dahoun S; Department of Genetics, University Hospital of Geneva, Geneva, Switzerland.
Mouafo Tambo F; Gyneco-Obstetric Hospital of Yaounde, Faculty of Medicine and Biomedical Sciences of the University of Yaounde I, Yaounde, Cameroon.
Moiffo B; Gyneco-Obstetric Hospital of Yaounde, Faculty of Medicine and Biomedical Sciences of the University of Yaounde I, Yaounde, Cameroon.
Sobngwi E; Central Hospital of Yaounde, Faculty of medicine and biomedical sciences of the University of Yaounde I, Yaounde, Cameroon.
Koki Ndombo P; Mother and Child Center of the Chantal Biya Foundation Yaounde, Faculty of Medicine and Biomedical Sciences, Department of Paediatrics, Yaounde, Cameroon.; Pokaż więcej
Źródło :: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2020 Mar 26; Vol. 33 (3), pp. 417-423.
Typ publikacji :: Journal Article; Observational Study
MeSH Terms :: Disorders of Sex Development/*epidemiology
Adolescent ; Adrenal Hyperplasia, Congenital/epidemiology ; Adrenal Hyperplasia, Congenital/etiology ; Cameroon ; Child ; Child, Preschool ; Disorders of Sex Development/complications ; Female ; Gonadal Dysgenesis, 46,XY/epidemiology ; Gonadal Dysgenesis, Mixed/epidemiology ; Humans ; Infant ; Klinefelter Syndrome/epidemiology ; Male ; Prevalence ; Retrospective Studies ; Sex Chromosome Aberrations ; Testis/growth & development ; Turner Syndrome/epidemiology
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 9 9.

Tytuł :: Mosaicism in 2 cases of X-linked hypophosphatemia.
Autorzy :: Broseta JJ; Servei de Nefrologia i Trasplantament Renal, Institut Clínic de Nefrologia i Urologia, Hospital Clínic, Barcelona, España. Electronic address: .
López-Romero LC; Servicio de Nefrología, Área Clínica del Riñón y Vías Urinarias, Hospital Universitari i Politècnic La Fe, Valencia, España.
Cerón JA; Unidad de Genética, Área de Diagnóstico Biomédico, Hospital Universitari i Politècnic La Fe, Valencia, España.
Mendizábal S; Sección de Nefrología Pediátrica, Área de las Enfermedades del Niño, Hospital Universitari i Politècnic La Fe, Valencia, España.
Hernández-Jaras J; Servicio de Nefrología, Área Clínica del Riñón y Vías Urinarias, Hospital Universitari i Politècnic La Fe, Valencia, España.; Pokaż więcej
Transliterated Title :: Mosaicismo en 2 casos de hipofosfatemia ligada al cromosoma X.
Źródło :: Endocrinologia, diabetes y nutricion [Endocrinol Diabetes Nutr] 2020 Jan; Vol. 67 (1), pp. 70-71. Date of Electronic Publication: 2019 Aug 29.
Typ publikacji :: Case Reports; Journal Article
MeSH Terms :: Mosaicism*
Familial Hypophosphatemic Rickets/*genetics
Abnormal Karyotype ; Adolescent ; Child, Preschool ; Familial Hypophosphatemic Rickets/blood ; Female ; Gonadal Dysgenesis, Mixed/genetics ; Humans ; Male ; PHEX Phosphate Regulating Neutral Endopeptidase/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 10 10.

Tytuł :: Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents.
Autorzy :: Weidler EM; Division of Pediatric Surgery, Phoenix Children's Hospital, MEd, 1919 E. Thomas Rd., Phoenix, AZ 85016, United States. Electronic address: .
Pearson M; Department of Genetics, District Medical Group, Phoenix, AZ, United States.
van Leeuwen K; Division of Pediatric Surgery, Phoenix Children's Hospital, MEd, 1919 E. Thomas Rd., Phoenix, AZ 85016, United States.
Garvey E; Division of Pediatric Surgery, Phoenix Children's Hospital, MEd, 1919 E. Thomas Rd., Phoenix, AZ 85016, United States.; Pokaż więcej
Źródło :: Seminars in pediatric surgery [Semin Pediatr Surg] 2019 Oct; Vol. 28 (5), pp. 150841. Date of Electronic Publication: 2019 Sep 19.
Typ publikacji :: Journal Article; Review
MeSH Terms :: Mosaicism*
Gonadal Dysgenesis, Mixed/*diagnosis
Gonadal Dysgenesis, Mixed/*therapy
Adolescent ; Biopsy ; Decision Making, Shared ; Ethics, Medical ; Fertility ; Gender Identity ; Genetic Predisposition to Disease ; Hormone Replacement Therapy ; Humans ; Immunohistochemistry ; Infant, Newborn ; Karyotyping ; Laparoscopy ; Magnetic Resonance Imaging ; Neoplasms, Germ Cell and Embryonal/genetics ; Physical Examination ; Ultrasonography
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 11 11.

Tytuł :: Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21-year single-center experience.
Autorzy :: Elkarhat Z; Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.; Laboratory of Neuroscience and Biochemistry, Faculty of Science and Technology, University Hassan 1er, Settat, Morocco.
Belkady B; Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Charoute H; Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Zarouf L; Laboratory of Cytogenetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Razoki L; Laboratory of Cytogenetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Aboulfaraj J; Laboratory of Cytogenetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Nassereddine S; Laboratory of Cytogenetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Elbakay C; Laboratory of Cytogenetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Nasser B; Laboratory of Neuroscience and Biochemistry, Faculty of Science and Technology, University Hassan 1er, Settat, Morocco.
Barakat A; Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.
Rouba H; Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco.; Pokaż więcej
Źródło :: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Aug; Vol. 179 (8), pp. 1516-1524. Date of Electronic Publication: 2019 Jun 17.
Typ publikacji :: Historical Article; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Academic Medical Centers/*history
Amenorrhea/*genetics
Disorders of Sex Development/*genetics
Turner Syndrome/*genetics
Adult ; Amenorrhea/epidemiology ; Amenorrhea/pathology ; Chimerism/statistics & numerical data ; Chromosomes, Human, Pair 8/genetics ; Disorders of Sex Development/epidemiology ; Disorders of Sex Development/pathology ; Down Syndrome/epidemiology ; Down Syndrome/genetics ; Down Syndrome/pathology ; Female ; Gonadal Dysgenesis, Mixed/epidemiology ; Gonadal Dysgenesis, Mixed/genetics ; Gonadal Dysgenesis, Mixed/pathology ; History, 20th Century ; History, 21st Century ; Humans ; Incidence ; Karyotyping ; Klinefelter Syndrome/epidemiology ; Klinefelter Syndrome/genetics ; Klinefelter Syndrome/pathology ; Male ; Morocco/epidemiology ; Retrospective Studies ; Trisomy/genetics ; Trisomy/pathology ; Trisomy 13 Syndrome/epidemiology ; Trisomy 13 Syndrome/genetics ; Trisomy 13 Syndrome/pathology ; Turner Syndrome/epidemiology ; Turner Syndrome/pathology
SCR Disease Name :: Chromosome 8, trisomy
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 12 12.

Tytuł :: Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism.
Autorzy :: Hornig NC; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.; Institute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.
Demiri J; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.
Rodens P; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.
Murga Penas EM; Institute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.
Caliebe A; Institute of Human Genetics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.
Eckstein AK; Gemeinschaftspraxis für Kinderchirurgie, Kronshagen, Germany.
Schweikert HU; Department of Internal Medicine, Division III, University Hospital Bonn, Bonn, Germany.; Institute of Biochemistry and Molecular Biology, University of Bonn, Bonn, Germany.
Audi L; Pediatric Endocrinology Research Unit, Vall d'Hebron Institut de Recerca, Hospital Universitari Vall d'Hebron, Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain.
Hiort O; Division of Pediatric Endocrinology, Department of Pediatrics, University Luebeck, Luebeck, Germany.
Werner R; Division of Pediatric Endocrinology, Department of Pediatrics, University Luebeck, Luebeck, Germany.
Kulle AE; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.
Ammerpohl O; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.
Holterhus PM; Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Christian-Albrechts-University Kiel and University Hospital Schleswig-Holstein, Kiel, Germany.; Pokaż więcej
Źródło :: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2019 Oct 01; Vol. 104 (10), pp. 4630-4638.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Mosaicism*
Fibroblasts/*metabolism
RNA, Messenger/*metabolism
Receptors, Androgen/*genetics
Skin/*cytology
Adolescent ; Apolipoproteins D ; Child, Preschool ; Female ; Foreskin ; Genitalia ; Gonadal Dysgenesis, Mixed ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Infant, Newborn ; Male ; Primary Cell Culture ; Receptors, Androgen/metabolism ; Scrotum ; Sex Chromosome Disorders of Sex Development ; Vulva ; Young Adult
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 13 13.

Tytuł :: [Ambiguous genitalia in newborn: Mixed gonadal dysgenesis?]
Autorzy :: Oviedo-Melgares L; Servicio de Pediatría, Hospital Universitario 12 de Octubre, Madrid, España. Electronic address: .
Soriano-Ramos M; Servicio de Neonatología, Hospital Universitario 12 de Octubre, Madrid, España.
Sánchez Del Pozo J; Sección de Endocrinología Pediátrica, Servicio de Pediatría, Hospital Universitario 12 de Octubre, Madrid, España.
Vázquez-Román S; Servicio de Neonatología, Hospital Universitario 12 de Octubre, Madrid, España.; Pokaż więcej
Transliterated Title :: Neonato con genitales ambiguos: ¿disgenesia gonadal mixta?
Źródło :: Anales de pediatria (Barcelona, Spain : 2003) [An Pediatr (Barc)] 2019 Sep; Vol. 91 (3), pp. 207-208. Date of Electronic Publication: 2018 Jun 14.
Typ publikacji :: Case Reports; Journal Article
MeSH Terms :: Disorders of Sex Development/*diagnosis
Gonadal Dysgenesis, Mixed/*diagnosis
Female ; Humans ; Infant, Newborn ; Male ; Turner Syndrome/diagnosis
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 14 14.

Tytuł :: A Boy with Short Stature, Unusual Findings and Low Percentage of 45,x(4%) / 46,xy(96%) Mosaicism.
Autorzy :: Dogan M
Eroz R
Bolu S
Yuce H
Gun E; Pokaż więcej
Źródło :: Genetic counseling (Geneva, Switzerland) [Genet Couns] 2016; Vol. 27 (2), pp. 269-72.
Typ publikacji :: Case Reports; Letter
MeSH Terms :: Disorder of Sex Development, 46,XY*/genetics
Disorder of Sex Development, 46,XY*/pathology
Disorder of Sex Development, 46,XY*/physiopathology
Gonadal Dysgenesis, Mixed*/genetics
Gonadal Dysgenesis, Mixed*/pathology
Gonadal Dysgenesis, Mixed*/physiopathology
Growth Disorders*/genetics
Growth Disorders*/pathology
Growth Disorders*/physiopathology
Mosaicism*
Adolescent ; Humans ; Male
: Raport

Szczegóły

Skocz do pozycji: 15 15.

Tytuł :: Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism.
Autorzy :: Pan L; Director of Endocrinology department, Shenzhen Children's Hospital, No. 7019, Yitian Road, Shenzhen, 518038, Guangdong Province, People's Republic of China.
Su Z; Director of Endocrinology department, Shenzhen Children's Hospital, No. 7019, Yitian Road, Shenzhen, 518038, Guangdong Province, People's Republic of China. .
Song J; Director of Endocrinology department, Shenzhen Children's Hospital, No. 7019, Yitian Road, Shenzhen, 518038, Guangdong Province, People's Republic of China.
Xu W; Director of Endocrinology department, Shenzhen Children's Hospital, No. 7019, Yitian Road, Shenzhen, 518038, Guangdong Province, People's Republic of China.
Liu X; Director of Endocrinology department, Shenzhen Children's Hospital, No. 7019, Yitian Road, Shenzhen, 518038, Guangdong Province, People's Republic of China.
Zhang L; Director of Endocrinology department, Shenzhen Children's Hospital, No. 7019, Yitian Road, Shenzhen, 518038, Guangdong Province, People's Republic of China.
Li S; Director of Endocrinology department, Shenzhen Children's Hospital, No. 7019, Yitian Road, Shenzhen, 518038, Guangdong Province, People's Republic of China.; Pokaż więcej
Corporate Authors :: multidisciplinary collaboration team of DSD management at Shenzhen Children’s Hospital
Źródło :: BMC pediatrics [BMC Pediatr] 2019 May 06; Vol. 19 (1), pp. 143. Date of Electronic Publication: 2019 May 06.
Typ publikacji :: Journal Article
MeSH Terms :: Body Height/*genetics
Child Development/*physiology
Gonadal Dysgenesis, 46,XY/*genetics
Gonadal Dysgenesis, Mixed/*genetics
Neoplasms/*genetics
Turner Syndrome/*diagnosis
Adolescent ; Biopsy, Needle ; Child ; Child, Preschool ; China ; Cohort Studies ; Female ; Hospitals, Pediatric ; Humans ; Immunohistochemistry ; Male ; Mosaicism ; Neoplasms/epidemiology ; Phenotype ; Retrospective Studies ; Risk Assessment ; Sex Factors ; Turner Syndrome/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 16 16.

Tytuł :: [Clinical and genetic analysis for a patient with 45, X/46, X, Yqh- and mixed gonadal dysgenesis].
Autorzy :: Wang S; Department of Gynecology and Obstetrics,Nantong University Affiliated Hospital, Nantong, Jiangsu 226001, China. .
Li H
Su M
Yang X
Huang H
Zhang Y
Li H
Zhang J; Pokaż więcej
Źródło :: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2016 Apr; Vol. 33 (2), pp. 216-20.
Typ publikacji :: English Abstract; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Genes, sry*
Gonadal Dysgenesis, Mixed/*genetics
Chromosome Banding ; Chromosomes, Human, Y/genetics ; Female ; Gonadal Dysgenesis, Mixed/diagnosis ; Humans ; Male ; Middle Aged ; Sex Determination Analysis
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 17 17.

Tytuł :: Detection of the SRY gene in patients with Turner Syndrome.
Autorzy :: Kurnaz E; Pediatric Endocrinology Clinic, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey. Electronic address: .
Çetinkaya S; Pediatric Endocrinology Clinic, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey.
Savaş-Erdeve Ş; Pediatric Endocrinology Clinic, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey.
Aycan Z; Pediatric Endocrinology Clinic, Dr. Sami Ulus Obstetrics and Gynecology and Pediatrics Training and Research Hospital, Ankara, Turkey.; Pokaż więcej
Źródło :: Journal of gynecology obstetrics and human reproduction [J Gynecol Obstet Hum Reprod] 2019 Apr; Vol. 48 (4), pp. 265-267. Date of Electronic Publication: 2019 Jan 24.
Typ publikacji :: Journal Article
MeSH Terms :: Karyotype*
DNA/*analysis
Genes, sry/*genetics
Turner Syndrome/*genetics
Castration ; Chromosomes, Human, Y/genetics ; Female ; Gonadal Dysgenesis, Mixed/genetics ; Gonadoblastoma/prevention & control ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Mosaicism ; Polymerase Chain Reaction ; Turner Syndrome/diagnosis
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 18 18.

Tytuł :: The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center.
Autorzy :: Huang YC; Department of Pediatrics, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
Lee CT; Department of Pediatrics, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
Wu MZ; Department of Pathology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
Liu SY; Department of Pediatrics, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
Tung YC; Department of Pediatrics, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
Ho HN; Department of Obstetrics and Gynecology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan.
Tsai WY; Department of Pediatrics, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address: .; Pokaż więcej
Źródło :: Journal of the Formosan Medical Association = Taiwan yi zhi [J Formos Med Assoc] 2019 Jan; Vol. 118 (1 Pt 3), pp. 450-456. Date of Electronic Publication: 2018 Jul 14.
Typ publikacji :: Journal Article
MeSH Terms :: Mosaicism*
Disorders of Sex Development/*drug therapy
Disorders of Sex Development/*genetics
Growth Hormone/*therapeutic use
Adolescent ; Body Height/genetics ; Child ; Child, Preschool ; Female ; Gonadal Dysgenesis, Mixed/genetics ; Gonadoblastoma/genetics ; Humans ; Infant ; Karyotyping ; Male ; Taiwan ; Turner Syndrome/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 19 19.

Tytuł :: Identification of X monosomy cells from a gonad of mixed gonadal dysgenesis with a 46,XY karyotype: case report.
Autorzy :: Nishina-Uchida N; From the Molecular and Developmental Pathology Research Group (NN-U, RF); Division of Endocrinology and Metabolism (NN-U, YH); Department of Pathology and Laboratory Medicine, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo, Japan (RF); and Department of Pathology, Dunedin School of Medicine, University of Otago, P.O. Box 913, Dunedin, New Zealand (RF, IMM).
Fukuzawa R
Hasegawa Y
Morison IM; Pokaż więcej
Źródło :: Medicine [Medicine (Baltimore)] 2015 Apr; Vol. 94 (14), pp. e720.
Typ publikacji :: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Chromosome Deletion*
Karyotype*
Gonadal Dysgenesis, Mixed/*genetics
Female ; Fluorescent Antibody Technique ; Forkhead Box Protein L2 ; Forkhead Transcription Factors/metabolism ; Gonadal Dysgenesis, Mixed/pathology ; Gonads/metabolism ; Gonads/pathology ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Male ; SOX9 Transcription Factor/metabolism ; Sex-Determining Region Y Protein/metabolism
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 20 20.

Tytuł :: Ovotesticular disorder of sexual development due to 47,XYY/46,XY/45,X mixed gonadal dysgenesis in a phenotypic male presenting as cyclical haematuria: clinical presentation and assessment of long-term outcomes.
Autorzy :: Dutta D; Department of Endocrinology & Metabolism, IPGMER & SSKM Hospital, Kolkata, India.
Shivaprasad KS
Das RN
Ghosh S
Chatterjee U
Chowdhury S
Dasgupta R; Pokaż więcej
Źródło :: Andrologia [Andrologia] 2014 Mar; Vol. 46 (2), pp. 191-3. Date of Electronic Publication: 2012 Nov 19.
Typ publikacji :: Case Reports; Journal Article
MeSH Terms :: Gonadal Dysgenesis, Mixed/*diagnosis
Hematuria/*diagnosis
Ovotesticular Disorders of Sex Development/*diagnosis
Adolescent ; Chorionic Gonadotropin ; Estradiol/blood ; Female ; Follicle Stimulating Hormone/blood ; Gonadal Dysgenesis, Mixed/pathology ; Humans ; Karyotype ; Luteinizing Hormone/blood ; Male ; Ovotesticular Disorders of Sex Development/pathology ; Testis/pathology ; Testosterone/blood
: Czasopismo naukowe

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