Temat: "Gonadal Dysgenesis, Mixed" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Chance diagnosis of mixed gonadal dysgenesis in an adult case of malignant gonadal germ cell tumor: a case report.
Autorzy:: Kurose Y; Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan. .
Nagai T; Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.
Shigematsu K; Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.
Uotani T; Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.
Akahori T; Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.
Takai Y; Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.
Seki H; Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama, 350-8550, Japan.; Pokaż więcej
Źródło:: Journal of medical case reports [J Med Case Rep] 2021 Mar 28; Vol. 15 (1), pp. 165. Date of Electronic Publication: 2021 Mar 28.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Gonadal Dysgenesis, Mixed*
Neoplasms, Germ Cell and Embryonal*/diagnosis
Urogenital Abnormalities*
Adult ; Amenorrhea/etiology ; Child, Preschool ; Female ; Humans ; Infant, Newborn

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Skocz do pozycji: 2.

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

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Skocz do pozycji: 3.

Tytuł:: Disorders of sexual differentiation: Report of two rare cases.
Autorzy:: Correya MA; Department of Pathology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.
Babu R; Department of Paediatric Urology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.
Archana B; Department of Pathology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.
Ravirajendiran S; Department of Paediatric Urology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.; Pokaż więcej
Źródło:: Indian journal of pathology & microbiology [Indian J Pathol Microbiol] 2021 Apr-Jun; Vol. 64 (2), pp. 390-393.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Sex Chromosome Aberrations*
Disorders of Sex Development/*physiopathology
Gonadal Dysgenesis, Mixed/*physiopathology
Sex Differentiation/*physiology
Abnormal Karyotype ; Adolescent ; Chromosome Deletion ; Cryptorchidism/genetics ; Female ; Humans ; Hypospadias/physiopathology ; Infant ; Male ; Mosaicism ; Primitive Streak/embryology ; Testis/abnormalities ; Uterus/abnormalities

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Skocz do pozycji: 4.

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

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Skocz do pozycji: 5.

Tytuł:: Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism.
Autorzy:: Cetin Z; Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
Parlak M
Altiok Clark O
Karaguzel G
Luleci G
Bircan I
Berker-Karauzum S; Pokaż więcej
Źródło:: European journal of pediatrics [Eur J Pediatr] 2013 Sep; Vol. 172 (9), pp. 1215-9. Date of Electronic Publication: 2013 May 08.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Chromosomes, Human, Pair 19*
Chromosomes, Human, X*
Chromosomes, Human, Y*
Mosaicism*
Telomere*
Gonadal Dysgenesis, Mixed/*diagnosis
Genetic Testing ; Gonadal Dysgenesis, Mixed/genetics ; Humans ; Infant, Newborn ; Male ; Translocation, Genetic

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Skocz do pozycji: 6.

Tytuł:: 45,X/46,X,psu dic(Y) gonadal dysgenesis: influence of the two cell lines on the clinical phenotype, including gonadal histology.
Autorzy:: Kaprova-Pleskacova J; Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
Snajderova M
Stoop J
Koudova M
Kocarek E
Novotna D
Drop SL
Obermannova B
Lebl J
Oosterhuis JW
Looijenga LH; Pokaż więcej
Źródło:: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation [Sex Dev] 2013; Vol. 7 (6), pp. 282-8. Date of Electronic Publication: 2013 Nov 13.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Disorders of Sex Development/*genetics
Gonadal Dysgenesis, Mixed/*genetics
Gonads/*pathology
Body Height ; Body Weight ; Celiac Disease/complications ; Chromosomes, Human, Y/genetics ; Disorders of Sex Development/pathology ; Disorders of Sex Development/surgery ; Female ; Gonadal Dysgenesis, Mixed/pathology ; Gonadal Dysgenesis, Mixed/surgery ; Gonads/chemistry ; Gonads/surgery ; Human Growth Hormone/therapeutic use ; Humans ; Immunohistochemistry ; Male ; Mosaicism ; Octamer Transcription Factor-3/analysis ; Phenotype ; Sex Chromosome Aberrations ; Testis/pathology ; Turner Syndrome/genetics ; Uterus/pathology

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Skocz do pozycji: 7.

Tytuł:: Description of children with 45,X/46,XY karyotype.
Autorzy:: Tosson H; Pediatric Endocrinology Clinic, Morgantown, WV, USA. />Rose SR
Gartner LA; Pokaż więcej
Źródło:: European journal of pediatrics [Eur J Pediatr] 2012 Mar; Vol. 171 (3), pp. 521-9. Date of Electronic Publication: 2011 Oct 14.
Typ publikacji:: Journal Article
MeSH Terms:: Abnormal Karyotype*
Abnormalities, Multiple/*diagnosis
Gonadal Dysgenesis, Mixed/*diagnosis
Heart Defects, Congenital/*diagnosis
Kidney/*abnormalities
Learning Disabilities/*diagnosis
Abnormalities, Multiple/genetics ; Abnormalities, Multiple/psychology ; Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Gonadal Dysgenesis, Mixed/genetics ; Gonadal Dysgenesis, Mixed/psychology ; Heart Defects, Congenital/genetics ; Humans ; Infant ; Infant, Newborn ; Learning Disabilities/genetics ; Male ; Retrospective Studies ; Young Adult

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Skocz do pozycji: 8.

Tytuł:: The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD?
Autorzy:: Ocal G; Department of Pediatric Endocrinology, Medical School of Ankara University, Ankara, Turkey.
Berberoğlu M
Sıklar Z
Ruhi HI
Tükün A
Camtosun E
Savaş Erdeve S
Hacıhamdioğlu B
Fitöz S; Pokaż więcej
Źródło:: European journal of pediatrics [Eur J Pediatr] 2012 Oct; Vol. 171 (10), pp. 1497-502. Date of Electronic Publication: 2012 May 30.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Heterogeneity*
Gonadal Dysgenesis, Mixed/*classification
Gonadal Steroid Hormones/*blood
Mosaicism/*classification
Sex Chromosome Disorders of Sex Development/*classification
Adolescent ; Child ; Child, Preschool ; Female ; Genitalia/abnormalities ; Gonadal Dysgenesis, Mixed/genetics ; Humans ; Infant ; Infant, Newborn ; Karyotype ; Male ; Phenotype ; Retrospective Studies ; Sex Chromosome Disorders of Sex Development/genetics ; Turkey

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Skocz do pozycji: 9.

Tytuł:: Molecular evaluation of the SRY gene for gonads of patients with mixed gonadal dysgenesis.
Autorzy:: Mizuno K; Department of Nephro-urology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan. />Kojima Y
Tozawa K
Sasaki S
Hayashi Y
Kohri K; Pokaż więcej
Źródło:: International journal of urology : official journal of the Japanese Urological Association [Int J Urol] 2005 Jul; Vol. 12 (7), pp. 673-6.
Typ publikacji:: Journal Article
MeSH Terms:: Genes, sry/*genetics
Gonadal Dysgenesis, Mixed/*genetics
Sex-Determining Region Y Protein/*genetics
Case-Control Studies ; Child, Preschool ; Cohort Studies ; Gonadal Dysgenesis, Mixed/metabolism ; Gonadal Dysgenesis, Mixed/pathology ; Gonads/metabolism ; Humans ; Infant ; Lymphocytes/metabolism ; Polymerase Chain Reaction ; RNA, Messenger/metabolism ; Sex-Determining Region Y Protein/metabolism

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Skocz do pozycji: 10.

Tytuł:: A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.
Autorzy:: Okuhara K; Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
Tajima T
Nakae J
Fujieda K; Pokaż więcej
Źródło:: Journal of human genetics [J Hum Genet] 2000; Vol. 45 (2), pp. 112-4.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Nuclear Proteins*
Transcription Factors*
DNA-Binding Proteins/*genetics
Gonadal Dysgenesis, Mixed/*genetics
Gonadoblastoma/*genetics
Testicular Neoplasms/*genetics
Y Chromosome/*genetics
Amino Acid Substitution ; Child ; Female ; Genotype ; Gonadal Dysgenesis, Mixed/complications ; Gonadal Dysgenesis, Mixed/diagnostic imaging ; Gonadoblastoma/complications ; Gonadoblastoma/diagnostic imaging ; Gonadoblastoma/surgery ; Humans ; Male ; Mutation, Missense ; Phenotype ; Protein Structure, Tertiary ; Sex Determination Analysis ; Sex-Determining Region Y Protein ; Testicular Neoplasms/complications ; Testicular Neoplasms/diagnostic imaging ; Testicular Neoplasms/surgery ; Tomography, X-Ray Computed

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Skocz do pozycji: 11.

Tytuł:: The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis.
Autorzy:: Hatano M
Fukuzawa R
Hasegawa Y; Pokaż więcej
Źródło:: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation [Sex Dev] 2018; Vol. 12 (4), pp. 175-179. Date of Electronic Publication: 2018 Jun 08.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Mosaicism*
Gonadal Dysgenesis, Mixed/*pathology
Turner Syndrome/*pathology
Adolescent ; Aorta/pathology ; Child ; Child, Preschool ; Gonads/pathology ; Gonads/surgery ; Humans ; Infant ; Infant, Newborn ; Male ; Mullerian Ducts/pathology ; Phenotype

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Skocz do pozycji: 12.

Tytuł:: The Clinical Manifestation and Genetic Evaluation in Patients with 45,X/46,XY Mosaicism.
Autorzy:: Wu Q; Center of Genetics and Prenatal Diagnosis, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Wang C
Shi H
Kong X
Ren S
Jiang M; Pokaż więcej
Źródło:: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation [Sex Dev] 2017; Vol. 11 (2), pp. 64-69. Date of Electronic Publication: 2017 Feb 18.
Typ publikacji:: Journal Article
MeSH Terms:: Mosaicism*
Gonadal Dysgenesis, Mixed/*genetics
Gonadal Dysgenesis, Mixed/*pathology
Adolescent ; Adult ; Body Height ; Endocrine System/metabolism ; Female ; Gonadal Hormones/metabolism ; Humans ; Infant ; Laparoscopy ; Male ; Phenotype ; Semen/metabolism ; Sex Characteristics ; Young Adult

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Skocz do pozycji: 13.

Tytuł:: Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases.
Autorzy:: Mouafo Tambo FF; Pediatric Sugery Service, Gyneco Obstetric and Paediatric Hospital, Yaoundé, Cameroon.
Dahoun S; University Teaching Hospitals of Geneva, Geneva, Switzerland.
Kamadjou C; Pediatric Sugery Service, Gyneco Obstetric and Paediatric Hospital, Yaoundé, Cameroon.
Nwaha Makon AS; Pediatric Sugery Service, Gyneco Obstetric and Paediatric Hospital, Yaoundé, Cameroon.
Fossi G; Pediatric Sugery Service, Gyneco Obstetric and Paediatric Hospital, Yaoundé, Cameroon.
Andze OG; Pediatric Sugery Service, Gyneco Obstetric and Paediatric Hospital, Yaoundé, Cameroon.
Sosso MA; Department of Surgery and Subspecialties, Faculty of Medicine and Biomedical Sciences, University of Yaoundé, Yaoundé, Cameroon.
Mure PY; Lyon Teaching Hospital, Lyon, France.; Pokaż więcej
Źródło:: African journal of paediatric surgery : AJPS [Afr J Paediatr Surg] 2016 Jul-Sep; Vol. 13 (3), pp. 145-9.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Gonadal Dysgenesis, Mixed/*diagnosis
Gonadal Dysgenesis, Mixed/*surgery
Adolescent ; Cameroon ; Child ; Child, Preschool ; Humans ; Male

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Skocz do pozycji: 14.

Tytuł:: Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants.
Autorzy:: dos Santos AP
Andrade JG
Piveta CS
de Paulo J
Guerra G Jr
de Mello MP
Maciel-Guerra AT; Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas - UNICAMP, Tessália Vieira de Camargo Street, 126 - Zip Code, 13083-887 Campinas, SP, Brazil. .; Pokaż więcej
Źródło:: BMC medical genetics [BMC Med Genet] 2013 Nov 05; Vol. 14, pp. 115. Date of Electronic Publication: 2013 Nov 05.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Chromosome Deletion*
Sex Chromosome Aberrations*
Sex Chromosome Disorders of Sex Development*
Gonadal Dysgenesis, Mixed/*genetics
Adolescent ; Chromosomes, Human, Y ; Expressed Sequence Tags ; Female ; Gonadal Dysgenesis/genetics ; Humans ; Infertility, Male ; Karyotype ; Male ; Mosaicism ; Testis/abnormalities ; Young Adult
SCR Disease Name:: Male sterility due to Y-chromosome deletions