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[PMID]:28379671
[Au] Autor:Akinsal EC; Baydilli N; Demirtas A; Saatci C; Ekmekcioglu O
[Ad] Endereço:Department of Urology, Erciyes University Medical Faculty, Kayseri, Turkey.
[Ti] Título:Ten cases with 46,XX testicular disorder of sex development: single center experience.
[So] Source:Int Braz J Urol;43(4):770-775, 2017 Jul-Aug.
[Is] ISSN:1677-6119
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To present clinical, chromosomal and hormonal features of ten cases with SRY-positive 46,XX testicular disorder of sex development who were admitted to our infertility clinic. CASES AND METHODS: Records of the cases who were admitted to our infertility clinic between 2004 and 2015 were investigated. Ten 46,XX testicular disorder of sex development cases were detected. Clinical, hormonal and chromosomal assessments were analized. RESULTS: Mean age at diagnosis was 30.4, mean body height was 166.9cm. Hormonal data indicated that the patients had a higher FSH, LH levels, lower TT level and normal E2, PRL levels. Karyotype analysis of all patients confirmed 46,XX karyotype, and FISH analysis showed that SRY gene was positive and translocated to Xp. The AZFa, AZFb and AZFc regions were absent in 8 cases. In one case AZFb and AZFc incomplete deletion and normal AZFa region was present. In the other one all AZF regions were present. CONCLUSION: Gonadal development disorders such as SRY-positive 46,XX testicular disorder of sex development can be diagnosed in infertility clinics during infertility workup. Although these cases had no chance of bearing a child, they should be protected from negative effects of testosterone deficiency by replacement therapies.
[Mh] Termos MeSH primário: Transtornos Testiculares 46, XX do Desenvolvimento Sexual/genética
Infertilidade Masculina/genética
[Mh] Termos MeSH secundário: Transtornos Testiculares 46, XX do Desenvolvimento Sexual/sangue
Adulto
Seres Humanos
Infertilidade Masculina/sangue
Cariótipo
Masculino
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170406
[St] Status:MEDLINE


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[PMID]:28328136
[Au] Autor:Falah N; Posey JE; Thorson W; Benke P; Tekin M; Tarshish B; Lupski JR; Harel T
[Ad] Endereço:Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics Miller School of Medicine, University of Miami and Jackson Memorial Hospital, Miami, Florida.
[Ti] Título:22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.
[So] Source:Am J Med Genet A;173(4):1066-1070, 2017 Apr.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Diagnosis of genetic syndromes may be difficult when specific components of a disorder manifest at a later age. We present a follow up of a previous report [Seeherunvong et al., (2004); AJMGA 127: 149-151], of an individual with 22q duplication and sex-reversal syndrome. The subject's phenotype evolved to include peripheral and central demyelination, Waardenburg syndrome type IV, and Hirschsprung disease (PCWH; MIM 609136). DNA microarray analysis defined the duplication at 22q11.2q13, including SOX10. Sequencing of the coding region of SOX10 did not reveal any mutations. Our data suggest that SOX10 duplication can cause disorders of sex development and PCWH, supporting the hypothesis that SOX10 toxic gain of function rather than dominant negative activity underlies PCWH.
[Mh] Termos MeSH primário: Transtornos Testiculares 46, XX do Desenvolvimento Sexual
Cromossomos Humanos Par 22/química
Doenças Desmielinizantes/genética
Doença de Hirschsprung/genética
Falência Renal Crônica/genética
Doença de Pelizaeus-Merzbacher/genética
Síndrome de Waardenburg/genética
[Mh] Termos MeSH secundário: Afroamericanos
Duplicação Cromossômica
Doenças Desmielinizantes/diagnóstico
Doenças Desmielinizantes/etnologia
Doenças Desmielinizantes/patologia
Doença de Hirschsprung/diagnóstico
Doença de Hirschsprung/etnologia
Doença de Hirschsprung/patologia
Seres Humanos
Falência Renal Crônica/diagnóstico
Falência Renal Crônica/etnologia
Falência Renal Crônica/patologia
Masculino
Doença de Pelizaeus-Merzbacher/diagnóstico
Doença de Pelizaeus-Merzbacher/etnologia
Doença de Pelizaeus-Merzbacher/patologia
Fatores de Transcrição SOXE/genética
Síndrome de Waardenburg/diagnóstico
Síndrome de Waardenburg/etnologia
Síndrome de Waardenburg/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (SOX10 protein, human); 0 (SOXE Transcription Factors)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170323
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38109


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[PMID]:28188242
[Au] Autor:Kulle A; Krone N; Holterhus PM; Schuler G; Greaves RF; Juul A; de Rijke YB; Hartmann MF; Saba A; Hiort O; Wudy SA; EU COST Action
[Ad] Endereço:Division of Pediatric Endocrinology and DiabetesDepartment of Pediatrics, Christian-Albrechts-University, Kiel, Germany.
[Ti] Título:Steroid hormone analysis in diagnosis and treatment of DSD: position paper of EU COST Action BM 1303 'DSDnet'.
[So] Source:Eur J Endocrinol;176(5):P1-P9, 2017 May.
[Is] ISSN:1479-683X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Disorders or differences in sex development (DSD) comprise a heterogeneous group of conditions with an atypical sex development. For optimal diagnosis, highly specialised laboratory analyses are required across European countries. Working group 3 of EU COST (European Cooperation in Science and Technology) Action BM 1303 'DSDnet' 'Harmonisation of Laboratory Assessment' has developed recommendations on laboratory assessment for DSD regarding the use of technologies and analytes to be investigated. This position paper on steroid hormone analysis in diagnosis and treatment of DSD was compiled by a group of specialists in DSD and/or hormonal analysis, either from participating European countries or international partner countries. The topics discussed comprised analytical methods (immunoassay/mass spectrometry-based methods), matrices (urine/serum/saliva) and harmonisation of laboratory tests. The following positions were agreed upon: support of the appropriate use of immunoassay- and mass spectrometry-based methods for diagnosis and monitoring of DSD. Serum/plasma and urine are established matrices for analysis. Laboratories performing analyses for DSD need to operate within a quality framework and actively engage in harmonisation processes so that results and their interpretation are the same irrespective of the laboratory they are performed in. Participation in activities of peer comparison such as sample exchange or when available subscribing to a relevant external quality assurance program should be achieved. The ultimate aim of the guidelines is the implementation of clinical standards for diagnosis and appropriate treatment of DSD to achieve the best outcome for patients, no matter where patients are investigated or managed.
[Mh] Termos MeSH primário: Transtornos do Desenvolvimento Sexual/diagnóstico
Hormônios/análise
Hormônios/genética
Esteroides/análise
[Mh] Termos MeSH secundário: Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico
Transtornos 46, XX do Desenvolvimento Sexual/genética
Transtornos Testiculares 46, XX do Desenvolvimento Sexual/diagnóstico
Transtornos Testiculares 46, XX do Desenvolvimento Sexual/genética
Transtornos do Desenvolvimento Sexual/genética
Europa (Continente)
Feminino
Seres Humanos
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Hormones); 0 (Steroids)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170516
[Lr] Data última revisão:
170516
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170212
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-16-0953


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[PMID]:27806792
[Au] Autor:Qin XY; Dong WK; Wang W; Dong ZY; Xiao Y; Lu WL; Wang DF
[Ad] Endereço:Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China.
[Ti] Título:[Analysis of clinical features and related genes variation in five patients with 46, XX male syndrome].
[So] Source:Zhonghua Er Ke Za Zhi;54(11):840-843, 2016 Nov 02.
[Is] ISSN:0578-1310
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:To explore the clinical manifestations and molecular features of 46, XX male syndrome. The clinical and molecular data of five 46, XX male syndrome cases treated in the Department of Pediatrics of Shanghai Ruijin Hospital form August 2010 to August 2014 were retrospectively analyzed. The five patients were all sociopsychologically males and came to hospital respectively for short stature, ambiguous genitalia or gynecomastia. They were all below the normal male's average height, and their karyotype was all 46, XX. One case in five was verified as sex determining region of Y chromosome (SRY gene) positive revealed no abnormality in their external genitalia. He had short stature since childhood, whose SRY gene fragments were shown by FISH transferred to the ends of X chromosome. Three cases in four were SRY gene negative with ambiguous genitalia of cryptorchidism and testicular dysplasia to different degrees. The copy number variations of SOX9 gene was found in one case, the loss of heterozygosity area in DHH gene of one case. Another SRY gene negative patient who had normal male external genitalia, came to the hospital due to puberty gynecomastia, that of SOX9 gene and its upstream gene both increased. The main clinical characteristics of 46, XX male syndrome are male phenotype, 46, XX karyotype, gonad of testis or ovotestis and no uterus. In addition, short stature, ambiguous genitalia or gynecomastia can be one reason for hospital visits. SRY gene translocation, SOX9 gene and its upstream gene copy number increase all can lead to 46, XX male syndrome. The cause of some may play an important role in 46, XX male syndrome, but has not yet been determined.
[Mh] Termos MeSH primário: Transtornos Testiculares 46, XX do Desenvolvimento Sexual/genética
Genes sry
[Mh] Termos MeSH secundário: Transtornos Testiculares 46, XX do Desenvolvimento Sexual/patologia
Criança
China
Variações do Número de Cópias de DNA
Transtornos do Desenvolvimento Sexual
Feminino
Seres Humanos
Cariotipagem
Masculino
Testículo
Translocação Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170515
[Lr] Data última revisão:
170515
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161104
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0578-1310.2016.11.010


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[PMID]:27124672
[Au] Autor:Gurbuz F; Ceylaner S; Erdogan S; Topaloglu AK; Yuksel B
[Ti] Título:Sertoli cell only syndrome with ambiguous genitalia.
[So] Source:J Pediatr Endocrinol Metab;29(7):849-52, 2016 Jul 01.
[Is] ISSN:2191-0251
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:The Sertoli cell only syndrome (SCOS) is a rare genetic disorder with a variable phenotype ranging from a severe ambiguous genitalia to a normal male phenotype with infertility. SCOS is diagnosed on testicular histopathology as germ cells are absent without histological impairment of Sertoli or Leydig cells. The SRY positive XX male syndrome is usually diagnosed in adulthood during infertility investigations. Here, we report a rare case of 46,XX maleness with ambiguous genitalia due to Sertoli cell only syndrome (SCOS).
[Mh] Termos MeSH primário: Transtornos Testiculares 46, XX do Desenvolvimento Sexual/diagnóstico
Síndrome de Células de Sertoli/etiologia
[Mh] Termos MeSH secundário: Transtornos Testiculares 46, XX do Desenvolvimento Sexual/genética
Transtornos Testiculares 46, XX do Desenvolvimento Sexual/fisiopatologia
Cromossomos Humanos X
Cromossomos Humanos Y
Consanguinidade
Análise Citogenética
Genes sry
Seres Humanos
Hibridização in Situ Fluorescente
Lactente
Masculino
Translocação Genética
Turquia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170502
[Lr] Data última revisão:
170502
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160429
[St] Status:MEDLINE


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[PMID]:26260363
[Au] Autor:Xia XY; Zhang C; Li TF; Wu QY; Li N; Li WW; Cui YX; Li XJ; Shi YC
[Ad] Endereço:Department of Reproduction and Genetics, Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu 210002, P.R. China.
[Ti] Título:A duplication upstream of SOX9 was not positively correlated with the SRY­negative 46,XX testicular disorder of sex development: A case report and literature review.
[So] Source:Mol Med Rep;12(4):5659-64, 2015 Oct.
[Is] ISSN:1791-3004
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:The 46,XX male disorder of sex development (DSD) is rarely observed in humans. Patients with DSD are all male with testicular tissue differentiation. The mechanism of sex determination and differentiation remains to be elucidated. In the present case report, an 46,XX inv (9) infertile male negative for the sex­determining region of the Y chromosome (SRY) gene was examined. This infertile male was systemically assessed by semen analysis, serum hormone testing and gonadal biopsy. Formalin­fixed and paraffin­embedded gonad tissues were assessed histochemically. The SRY gene was analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR). The other 23 specific loci, including the azoospermia factor region on the Y chromosome and the sequence-targeted sites of the SRY­box 9 (SOX9) gene were analyzed by PCR. The genes RSPO1, DAX1, SOX3, ROCK, DMRT1, SPRY2 and FGF9 were also assessed using sequencing analysis. Affymetrix Cytogenetics Whole Genome 2.7 M Arrays were used for detecting the genomic DNA from the patient and the parents. The patient with the 46,XX inv (9) (p11q13) karyotype exhibited male primary, however, not secondary sexual characteristics. However, the patient's mother with the 46, XX inv (9) karyotype was unaffected. The testicular tissue dysplasia of the patient was confirmed by tissue biopsy and absence of the SRY gene, and the other 23 loci on the Y chromosome were confirmed by FISH and/or PCR. The RSPO1, DAX1, SOX3, ROCK, DMRT1, SPRY2 and FGF9 genes were sequenced and no mutations were detected. A duplication on the 3 M site in the upstream region of SOX9 was identified in the patient as well as in the mother. The patient with the 46,XX testicular DSD and SRY­negative status was found to be infertile. The duplication on the 3 M site in the upstream region of SOX9 was a polymorphism, which indicated that the change was not a cause of 46,XX male SDS. These clinical, molecular and cytogenetic findings suggested that other unidentified genetic or environmental factors are significant in the regulation of SDS.
[Mh] Termos MeSH primário: Transtornos Testiculares 46, XX do Desenvolvimento Sexual/genética
Duplicação Cromossômica
Infertilidade Masculina/genética
Fatores de Transcrição SOX9/genética
Desenvolvimento Sexual/genética
[Mh] Termos MeSH secundário: Transtornos Testiculares 46, XX do Desenvolvimento Sexual/diagnóstico
Transtornos Testiculares 46, XX do Desenvolvimento Sexual/patologia
Adulto
Expressão Gênica
Seres Humanos
Infertilidade Masculina/diagnóstico
Infertilidade Masculina/patologia
Padrões de Herança
Cariotipagem
Masculino
Testículo/metabolismo
Testículo/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (SOX9 Transcription Factor); 0 (SOX9 protein, human)
[Em] Mês de entrada:1606
[Cu] Atualização por classe:151201
[Lr] Data última revisão:
151201
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150812
[St] Status:MEDLINE
[do] DOI:10.3892/mmr.2015.4202


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[PMID]:25871731
[Au] Autor:Benedict K; Han CS; Silverman NS; Krakow D; Platt LD
[Ad] Endereço:Integrated Genetics, Los Angeles, CA, USA.
[Ti] Título:Detection of Y chromosome material in a 46,XX male with SRY translocation: novel application of cell-free fetal DNA testing.
[So] Source:Prenat Diagn;35(8):823-5, 2015 Aug.
[Is] ISSN:1097-0223
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Transtornos Testiculares 46, XX do Desenvolvimento Sexual/diagnóstico
Cromossomos Humanos Y
DNA/sangue
Genes sry
Testes para Triagem do Soro Materno
Translocação Genética
[Mh] Termos MeSH secundário: Transtornos Testiculares 46, XX do Desenvolvimento Sexual/genética
Adulto
Feminino
Seres Humanos
Masculino
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
9007-49-2 (DNA)
[Em] Mês de entrada:1605
[Cu] Atualização por classe:150805
[Lr] Data última revisão:
150805
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150415
[St] Status:MEDLINE
[do] DOI:10.1002/pd.4604


  8 / 37 MEDLINE  
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[PMID]:25781358
[Au] Autor:Haines B; Hughes J; Corbett M; Shaw M; Innes J; Patel L; Gecz J; Clayton-Smith J; Thomas P
[Ad] Endereço:School of Molecular & Biomedical Science (B.H., J.H., P.T.), Robinson Research Institute (B.H., J.H., M.C., M.S., J.G., P.T.), School of Pediatrics and Reproductive Health (M.C., M.S., J.G.), The University of Adelaide, Adelaide, Australia 5005; Manchester Centre For Genomic Medicine (J.I., J.C.-S.), Central Manchester National Health Service Foundation Trust, University of Manchester, Manchester M13 9WL; and Department of Child Health (L.P.), Royal Manchester Children's Hospital, University of Manchester, Manchester M13 9WL.
[Ti] Título:Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal.
[So] Source:J Clin Endocrinol Metab;100(5):E815-20, 2015 May.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:CONTEXT: 46,XX male sex reversal occurs in approximately 1: 20 000 live births and is most commonly caused by interchromosomal translocations of the Y-linked sex-determining gene, SRY. Rearrangements of the closely related SOX3 gene on the X chromosome are also associated with 46,XX male sex reversal. It has been hypothesized that sex reversal in the latter is caused by ectopic expression of SOX3 in the developing urogenital ridge where it triggers male development by acting as an analog of SRY. However, altered regulation of SOX3 in individuals with XX male sex reversal has not been demonstrated. PATIENTS AND METHODS: Here we report a boy with SRY-negative XX male sex reversal who was diagnosed at birth with a small phallus, mixed gonads, and borderline-normal T. Molecular characterization of the affected individual was performed using array comparative genomic hybridization, fluorescent in situ hybridization of metaphase chromosomes, whole-genome sequencing, and RT-PCR expression analysis of lymphoblast cell lines. RESULTS: The affected male carries ∼774-kb insertion translocation from chromosome 1 into a human-specific palindromic sequence 82 kb distal to SOX3. Importantly, robust SOX3 expression was identified in cells derived from the affected individual but not from control XX or XY cells, indicating that the translocation has a direct effect on SOX3 regulation. CONCLUSION: This is the first demonstration of altered SOX3 expression in an individual with XX male sex reversal and suggests that SOX3 can substitute for SRY to initiate male development in humans.
[Mh] Termos MeSH primário: Transtornos Testiculares 46, XX do Desenvolvimento Sexual/genética
Fatores de Transcrição SOXB1/genética
Aberrações dos Cromossomos Sexuais
Translocação Genética
[Mh] Termos MeSH secundário: Pré-Escolar
Seres Humanos
Lactente
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (SOX3 protein, human); 0 (SOXB1 Transcription Factors)
[Em] Mês de entrada:1509
[Cu] Atualização por classe:150509
[Lr] Data última revisão:
150509
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:150318
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2014-4383


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[PMID]:25529318
[Au] Autor:Li TF; Wu QY; Zhang C; Li WW; Zhou Q; Jiang WJ; Cui YX; Xia XY; Shi YC
[Ti] Título:46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature.
[So] Source:BMC Urol;14:104, 2014 Dec 22.
[Is] ISSN:1471-2490
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: 46,XX testicular disorder of sex development is a rare genetic syndrome, characterized by a complete or partial mismatch between genetic sex and phenotypic sex, which results in infertility because of the absence of the azoospermia factor region in the long arm of Y chromosome. CASE PRESENTATION: We report a case of a 14-year-old male with microorchidism and mild bilateral gynecomastia who referred to our hospital because of abnormal gender characteristics. The patient was treated for congenital scrotal type hypospadias at the age of 4 years. Semen analysis indicated azoospermia by centrifugation of ejaculate. Levels of follicle-stimulating hormone and luteinizing hormone were elevated, while that of testosterone was low and those of estradiol and prolactin were normal. The results of gonadal biopsy showed hyalinization of the seminiferous tubules, but there was no evidence of spermatogenic cells. Karyotype analysis of the patient confirmed 46,XX karyotype and fluorescent in situ hybridization analysis of the sex-determining region Y (SRY) gene was negative. Molecular analysis revealed that the SRY gene and the AZFa, AZFb and AZFc regions were absent. No mutation was detected in the coding region and exon/intron boundaries of the RSPO1, DAX1, SOX9, SOX3, SOX10, ROCK1, and DMRT genes, and no copy number variation in the whole genome sequence was found. CONCLUSION: This study adds a new case of SRY-negative 46,XX testicular disorder of sex development and further verifies the view that the absence of major regions from the Y chromosome leads to an incomplete masculine phenotype, abnormal hormone levels and infertility. To date, the mechanisms for induction of testicular tissue in 46,XX SRY-negative patients remain unknown, although other genetic or environmental factors play a significant role in the regulation of sex determination and differentiation.
[Mh] Termos MeSH primário: Transtornos Testiculares 46, XX do Desenvolvimento Sexual/genética
Genes sry/genética
[Mh] Termos MeSH secundário: Transtornos Testiculares 46, XX do Desenvolvimento Sexual/patologia
Adolescente
Deleção de Genes
Seres Humanos
Imuno-Histoquímica
Hibridização in Situ Fluorescente
Infertilidade Masculina/genética
Infertilidade Masculina/patologia
Inibinas/análise
Cariotipagem
Masculino
Fenótipo
Testículo/patologia
Vimentina/análise
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
0 (Vimentin); 57285-09-3 (Inhibins)
[Em] Mês de entrada:1507
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141223
[St] Status:MEDLINE
[do] DOI:10.1186/1471-2490-14-104


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[PMID]:25402392
[Au] Autor:Armeni AK; Vasileiou V; Markantes G; Damoulari C; Mandrapilia A; Kosmopoulou FA; Keramisanou V; Georgakopoulou D; Georgopoulos NA
[Ti] Título:Gender identity disputed in the court of justice: a story of female to male sexual transformation in the hellenistic period, described by Diodorus Siculus.
[So] Source:Hormones (Athens);13(4):579-82, 2014 Oct-Dec.
[Is] ISSN:1109-3099
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:Cases of sexual reassignment in Greco-Roman antiquity, presenting as a pubertal female to male gender transformation, are described in the "classical"literature. Textual evidence concerning a case of androgynism, garnered by Diodorus Siculus, among other similar accounts, as an odd story of gender dispute in a court of justice, is provided in the present study. A medical interpretation of the data pertaining to this case has been attempted and is herein reported. The spontaneous virilization and post-pubertal gender inversion of the specific individual appears to have been caused by a defect either in 5α-reductase type 2 or in 17ß hydroxysteroid dehydrogenase genes and consequent deficient enzymatic activity.
[Mh] Termos MeSH primário: Transtornos Testiculares 46, XX do Desenvolvimento Sexual/história
Identidade de Gênero
Jurisprudência
[Mh] Termos MeSH secundário: 17-Hidroxiesteroide Desidrogenases/deficiência
17-Hidroxiesteroide Desidrogenases/genética
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética
Transtornos Testiculares 46, XX do Desenvolvimento Sexual/diagnóstico
Adulto
Diagnóstico Diferencial
Feminino
Mundo Grego
História Antiga
Seres Humanos
Jurisprudência/história
Masculino
Casamento/história
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; HISTORICAL ARTICLE; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 1.1.- (17-Hydroxysteroid Dehydrogenases); EC 1.1.1.51 (3 (or 17)-beta-hydroxysteroid dehydrogenase); EC 1.3.99.5 (3-Oxo-5-alpha-Steroid 4-Dehydrogenase)
[Em] Mês de entrada:1510
[Cu] Atualização por classe:150105
[Lr] Data última revisão:
150105
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:141118
[St] Status:MEDLINE
[do] DOI:10.14310/horm.2002.1504



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