Base de dados : MEDLINE
Pesquisa : C12.706.316 [Categoria DeCS]
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[PMID]:28934713
[Au] Autor:Cacciatore F; Boscolo Brusà R; Noventa S; Antonini C; Moschino V; Formalewicz M; Gion C; Berto D; Gabellini M; Marin MG
[Ad] Endereço:ISPRA - Institute for Environmental Protection and Research, Loc. Brondolo, 30015 Chioggia, Italy. Electronic address: federica.cacciatore@isprambiente.it.
[Ti] Título:Imposex levels and butyltin compounds (BTs) in Hexaplex trunculus (Linnaeus, 1758) from the northern Adriatic Sea (Italy): Ecological risk assessment before and after the ban.
[So] Source:Ecotoxicol Environ Saf;147:688-698, 2018 Jan.
[Is] ISSN:1090-2414
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:The aim of this study was to compare imposex and butyltin compounds (BTs) data, collected before and after the organotin ban in 2008, in order to assess temporal and spatial variation of the phenomenon, the decline of BT contamination, and the effects on Hexaplex trunculus population in the coastal area of the northern Adriatic Sea, close to the Venice Lagoon. Both in marine and in lagoon sites, the results obtained in 2013-2015 showed a significant decline in the incidence of imposex in respect to those from the 2002 survey. In 2002, lagoon samples exhibited Relative Penis Size Index (RPSI) higher than marine samples, whereas no differences were detected in the recent survey, when all RPSI values were below 0.6%. Vas Deference Sequence Index (VDSI) mean values were over 4 before the ban introduction and below this value after that, indicating more critical conditions for gastropod population in 2002 rather than in 2013-15. Percentage of sterile females was up to 69% in 2002, whilst in the more recent survey no sterile female was found. Range of BT concentrations in gastropods decreased from 252 to 579 to 16-31ng∑BT/g d.w. BT body burdens varied according to a gender dependant pattern, with higher concentrations observed in females than in males. A first attempt to propose a classification based on BT impact on H. trunculus, according to the Water Framework Directive, revealed that most sites were in Bad ecological status before the ban and attained a Poor/Moderate status after that.
[Mh] Termos MeSH primário: Transtornos do Desenvolvimento Sexual/induzido quimicamente
Monitoramento Ambiental/métodos
Gastrópodes/efeitos dos fármacos
Compostos de Trialquitina/toxicidade
Poluentes Químicos da Água/toxicidade
[Mh] Termos MeSH secundário: Animais
Carga Corporal (Radioterapia)
Feminino
Gastrópodes/metabolismo
Itália
Masculino
Mar Mediterrâneo
Medição de Risco
Água do Mar/química
Compostos de Trialquitina/metabolismo
Poluentes Químicos da Água/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Trialkyltin Compounds); 0 (Water Pollutants, Chemical); 4XDX163P3D (tributyltin)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170922
[St] Status:MEDLINE


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[PMID]:29256284
[Au] Autor:Fábián R; Kovács A; Stéger V; Frank K; Egerszegi I; Oláh J; Bodó S
[Ad] Endereço:1 National Agricultural Research and Innovation Centre , Szent-Györgyi Albert u. 4, H-2100 Gödöllo , Hungary.
[Ti] Título:X- and Y-chromosome-specific variants of the amelogenin gene allow non-invasive sex diagnosis for the detection of pseudohermaphrodite goats.
[So] Source:Acta Vet Hung;65(4):500-504, 2017 12.
[Is] ISSN:0236-6290
[Cp] País de publicação:Hungary
[La] Idioma:eng
[Ab] Resumo:The Polled Intersex Syndrome (PIS) is responsible for the absence of horns in homozygous and heterozygous goats causing a female-to-male sex reversal in the homozygous polled genotypic female (XX) goats. A simple and efficient non-invasive method was elaborated to detect the genotypic sex from hair and faecal samples using a pair of primers to amplify the X- and Y-linked alleles of the amelogenin gene. The PCR products were easily distinguishable using agarose gel electrophoresis: we detected an X-specific single band in samples originating from healthy phenotypic females and double (X- and Y-) bands in samples from males. The new PCR method is applicable for diagnosing the sex of PIS-affected animals already as newborn kids, in contrast with the phenotypic findings appearing only after puberty, and thus it may replace the cumbersome chromosome investigations.
[Mh] Termos MeSH primário: Amelogenina/metabolismo
Transtornos do Desenvolvimento Sexual/veterinária
Doenças das Cabras/genética
Cromossomo X/genética
Cromossomo Y/genética
[Mh] Termos MeSH secundário: Amelogenina/genética
Animais
DNA/química
DNA/genética
Transtornos do Desenvolvimento Sexual/diagnóstico
Transtornos do Desenvolvimento Sexual/genética
Fezes/química
Feminino
Regulação da Expressão Gênica
Genótipo
Doenças das Cabras/diagnóstico
Cabras
Cabelo/química
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Amelogenin); 9007-49-2 (DNA)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180305
[Lr] Data última revisão:
180305
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171220
[St] Status:MEDLINE
[do] DOI:10.1556/004.2017.047


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[PMID]:29368459
[Au] Autor:Guerrini A
[Ti] Título:The Hermphrodite of Charing Cross.
[So] Source:Clio Med;95:28-51, 2016.
[Is] ISSN:0045-7183
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Mh] Termos MeSH primário: Transtornos do Desenvolvimento Sexual/história
Experimentação Humana/história
Medicina nas Artes
[Mh] Termos MeSH secundário: Feminilidade
História do Século XVIII
Seres Humanos
Masculinidade
[Pt] Tipo de publicação:HISTORICAL ARTICLE; JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180215
[Lr] Data última revisão:
180215
[Sb] Subgrupo de revista:IM; QIS
[Da] Data de entrada para processamento:180126
[St] Status:MEDLINE


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[PMID]:29051026
[Au] Autor:Ramos L; Chávez B; Mares L; Valdés E; Vilchis F
[Ad] Endereço:Department of Reproductive Biology, Instituto Nacional de Ciencias Médicas y Nutrición S.Z., Mexico.
[Ti] Título:Mutational analysis of the androgen receptor (NR3C4) gene in patients with 46,XY DSD.
[So] Source:Gene;641:86-93, 2018 Jan 30.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by mutations in the NR3C4 gene, which encodes the androgen receptor (AR). In this study, we performed mutational analyses to identify AR molecular defects, in individuals with 46,XY disorders of sex development (46,XY DSD) and a presumptive diagnosis of AIS. Eighteen different gene mutations, including seven previously unreported new variants, were detected in 26 unrelated cases. These included two deletion mutations (P49fs*185 and E308f*320) in exon 1 and five substitution mutations (p.S792P, p.D829G, p.R832P, p.L839F, and p.K906E) located in the steroid-binding domain. Expression analyses of mutants generated by site-directed mutagenesis indicated that these new gene variants impaired AR function by affecting its binding activity. Seventeen of 18 mutations likely lead to reduced or absent responses to androgens, which may in turn account for the different degrees of undermasculinization observed. Our study provides insight into the functional consequences of these mutations.
[Mh] Termos MeSH primário: Síndrome de Resistência a Andrógenos/genética
Transtornos do Desenvolvimento Sexual/genética
Receptores Androgênicos/genética
Diferenciação Sexual/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Análise Mutacional de DNA
Feminino
Seres Humanos
Lactente
Masculino
México
Mutação/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, Androgen)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:180110
[Lr] Data última revisão:
180110
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171021
[St] Status:MEDLINE


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[PMID]:28923284
[Au] Autor:Slowikowska-Hilczer J; Hirschberg AL; Claahsen-van der Grinten H; Reisch N; Bouvattier C; Thyen U; Cohen Kettenis P; Roehle R; Köhler B; Nordenström A; dsd-LIFE Group
[Ad] Endereço:Department of Andrology and Reproductive Endocrinology, Medical University of Lodz, Lodz, Poland.
[Ti] Título:Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study.
[So] Source:Fertil Steril;108(5):822-831, 2017 Nov.
[Is] ISSN:1556-5653
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To investigate fertility outcome in individuals with different forms of disorders of sex development (DSD), if assisted reproductive technology (ART) was used, and the patients' satisfaction with the information they had received. DESIGN: A cross-sectional multicenter study, dsd-LIFE. SETTING: Not applicable. PATIENT(S): A total of 1,040 patients aged ≥16 years with different DSD diagnoses participated. INTERVENTION(S): A web-based questionnaire was filled out by all participants. The participants could chose to take part in somatic investigations including ultrasonography. MAIN OUTCOME MEASURE(S): Information on partner, number of children, ART, adoption and step-children, general health, presence of gonads and uterus, current education and economic situation, received information on fertility issues, and satisfaction with the information, was collected. RESULT(S): In the total cohort, mean age 32 years, 33% lived with a partner, but only 14% reported having at least one child including 7% with ART, 4% adopted. Only 3.5% of the total cohort had been able to reproduce without ART, most frequently women with congenital adrenal hyperplasia, and only 0.7% of participants with other diagnoses. Of the participants, 72% had received information on fertility, but 17% were not satisfied with the information. CONCLUSION(S): Fertility outcome is significantly reduced in all types of DSD; however, fertility potential should be assessed individually. The satisfaction with how fertility problems have been discussed can be improved. The care of patients with DSD is complex, should be individualized, and new treatment possibilities incorporated. A close collaboration in multidisciplinary teams is therefore essential to improve the situation for individuals with DSD.
[Mh] Termos MeSH primário: Transtornos do Desenvolvimento Sexual/complicações
Fertilidade
Infertilidade Feminina/etiologia
Infertilidade Masculina/etiologia
[Mh] Termos MeSH secundário: Acesso à Informação
Adolescente
Adoção
Adulto
Idoso
Estudos Transversais
Transtornos do Desenvolvimento Sexual/diagnóstico
Transtornos do Desenvolvimento Sexual/genética
Transtornos do Desenvolvimento Sexual/fisiopatologia
Europa (Continente)
Feminino
Predisposição Genética para Doença
Conhecimentos, Atitudes e Prática em Saúde
Seres Humanos
Infertilidade Feminina/diagnóstico
Infertilidade Feminina/fisiopatologia
Infertilidade Feminina/terapia
Infertilidade Masculina/diagnóstico
Infertilidade Masculina/fisiopatologia
Infertilidade Masculina/terapia
Masculino
Meia-Idade
Pais
Educação de Pacientes como Assunto
Satisfação do Paciente
Fenótipo
Gravidez
Saúde Reprodutiva
Técnicas de Reprodução Assistida
Inquéritos e Questionários
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170920
[St] Status:MEDLINE


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[PMID]:28703709
[Au] Autor:Pienkowska-Schelling A; Wyss F; Baumeyer A; Wenker C; Schelling C
[Ad] Endereço:Institut für Genetik, Vetsuisse-Fakultät, Universität Bern.
[Ti] Título:[Chromosomal aberrations in a subfertile cotton-top tamarin].
[Ti] Título:Chromosomen-Veränderungen bei einem subfertilen Lisztäffchen..
[So] Source:Schweiz Arch Tierheilkd;159(7):387-391, 2017 Jul.
[Is] ISSN:0036-7281
[Cp] País de publicação:Switzerland
[La] Idioma:ger
[Ab] Resumo:INTRODUCTION: The present case report describes a female cotton-top tamarin which was taken over by the Zoo Basel to form a new breeding pair. The animal demonstrated increased marking behavior without any obvious medical reasons, dominant behavior, failure to become pregnant and its external genitals were ambiguous. A disorder of the sexual development (DSD) was suspected by the zoo veterinarians and in a first step, the chromosomes of the monkey were analyzed. Six cell lines with different karyotypes were observed. The two most frequent cell lines had a 46,XX or a 46,XY karyotype which are normal chromosome complements of female and male cotton-top tamarins, respectively. The other much less frequent cell lines showed numerical aberrations with and without a marker chromosome. Specific biological features of the Callitrichidae, such as natural twinning and genetic chimerism impeded the clarification of the pathogenesis and prevented a reliable prognosis on the fertility of the cotton-top tamarin.
[Mh] Termos MeSH primário: Animais de Zoológico/genética
Aberrações Cromossômicas
Transtornos do Desenvolvimento Sexual/veterinária
Infertilidade/veterinária
Saguinus/genética
[Mh] Termos MeSH secundário: Animais
Transtornos do Desenvolvimento Sexual/genética
Feminino
Infertilidade/genética
Masculino
Suíça
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170714
[St] Status:MEDLINE
[do] DOI:10.17236/sat00122


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[PMID]:28627101
[Au] Autor:Sung M; Kawasaki I; Shim YH
[Ad] Endereço:Department of Bioscience and Biotechnology, Konkuk University, Seoul, Korea.
[Ti] Título:Depletion of cdc-25.3, a Caenorhabditis elegans orthologue of cdc25, increases physiological germline apoptosis.
[So] Source:FEBS Lett;591(14):2131-2146, 2017 Jul.
[Is] ISSN:1873-3468
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:In Caenorhabditis elegans hermaphrodites, physiological germline apoptosis is higher in cdc-25.3 mutants than in wild-type. The elevated germline apoptosis in cdc-25.3 mutants seems to be induced by accumulation of double-stranded DNA breaks (DSBs). Both DNA damage and synapsis checkpoint genes are required to increase the germline apoptosis. Notably, the number of germ cells that lose P-granule components, PGL-1 and PGL-3, increase in cdc-25.3 mutants, and the increase in germline apoptosis requires the activity of SIR-2.1, a Sirtuin orthologue. These results suggest that elevation of germline apoptosis in cdc-25.3 mutants is induced by accumulation of DSBs, leading to a loss of PGL-1 and PGL-3 in germ cells, which promotes cytoplasmic translocation of SIR-2.1, and finally activates the core apoptotic machinery.
[Mh] Termos MeSH primário: Apoptose/genética
Proteínas de Caenorhabditis elegans/genética
Caenorhabditis elegans/citologia
Caenorhabditis elegans/genética
Deleção de Genes
Homologia de Sequência do Ácido Nucleico
Espermatozoides/citologia
Fosfatases cdc25/genética
[Mh] Termos MeSH secundário: Animais
Proteínas de Caenorhabditis elegans/metabolismo
Pareamento Cromossômico
Quebras de DNA de Cadeia Dupla
Transtornos do Desenvolvimento Sexual/genética
Masculino
Meiose
Fosfatases cdc25/metabolismo
[Pt] Tipo de publicação:LETTER
[Nm] Nome de substância:
0 (Caenorhabditis elegans Proteins); EC 3.1.3.48 (CDC-25.3 protein, C elegans); EC 3.1.3.48 (cdc25 Phosphatases)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170815
[Lr] Data última revisão:
170815
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170620
[St] Status:MEDLINE
[do] DOI:10.1002/1873-3468.12717


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[PMID]:28602421
[Au] Autor:Geraudie P; Gerbron M; Minier C
[Ad] Endereço:Laboratory of Ecotoxicology, UMR-I 02 SEBIO, Normandie University, Le Havre, France; Akvaplan-niva, Environmental and Petroleum Research Department, Framsenteret, Tromsø, Norway. Electronic address: pge@akvaplan.niva.no.
[Ti] Título:Endocrine disruption effects in male and intersex roach (Rutilus rutilus, L.) from French rivers: An integrative approach based on subcellular to individual responses.
[So] Source:Comp Biochem Physiol B Biochem Mol Biol;211:29-36, 2017 Sep.
[Is] ISSN:1879-1107
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Among the chemicals found in the aquatic environment, some have been reported to interact with the endocrine system of organisms and have been identified as endocrine disrupting compounds. In this study, we have assessed the biological effects due to environmental estrogenic compounds in adult male roach (Rutilus rutilus). Wild fish were collected in the Seine River, and one of its affluent, the Epte River in Normandy, France and impacts on endocrine and reproductive functions have been assessed. This study provides innovative data on the intersex condition in wild fish that are crucial to understand estrogenic contamination impacts and maintenance of sustainable fish population. The biomarker responses found in fish from contaminated sites included high plasmatic vitellogenin concentrations, altered steroid levels, histopathological and up to 50% intersex fish among the male. However, the overall sex ratio of the roach population indicated sign of feminization with some sites showing only 20% of males. The chemical organic contamination at the different location sites has been characterized by the levels of PAHs, PCBs and phthalates and total estrogenic activity was measured by the YES in vitro assay.
[Mh] Termos MeSH primário: Cyprinidae/fisiologia
Transtornos do Desenvolvimento Sexual/induzido quimicamente
Disruptores Endócrinos/toxicidade
Fertilidade/fisiologia
Hormônios Esteroides Gonadais/metabolismo
Gônadas/efeitos dos fármacos
Poluentes Químicos da Água/toxicidade
[Mh] Termos MeSH secundário: Animais
Feminino
Fertilidade/efeitos dos fármacos
França
Masculino
Rios
Frações Subcelulares
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Endocrine Disruptors); 0 (Gonadal Steroid Hormones); 0 (Water Pollutants, Chemical)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170613
[St] Status:MEDLINE


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[PMID]:28534684
[Au] Autor:Liang JJ; Gardner IH; Walker JA; Safer JD
[Ti] Título:OBSERVED DEFICIENCIES IN MEDICAL STUDENT KNOWLEDGE OF TRANSGENDER AND INTERSEX HEALTH.
[So] Source:Endocr Pract;23(8):897-906, 2017 Aug.
[Is] ISSN:1530-891X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Lesbian, gay, bisexual, transgender, and intersex (LGBTI) patients face many well-documented disparities in care which among transgender and intersex people can often be traced to providers' lack of knowledge. METHODS: We administered surveys to examine the self-assessed knowledge and attitudes of all medical students at Boston University regarding different LGBTI subpopulations. Survey questions were based on a Likert scale from 1 to 5; analysis was conducted with Wilcoxon rank sum tests. RESULTS: Overall there was a response rate of 24%, with the number of responses varying by class. Three of the 4 surveyed classes reported lower knowledge about transgender health than LGB health. Every class reported significantly lower knowledge of intersex health in comparison to LGB. Comfort with transgender or with intersex patients was lower than with LGB patients for all surveyed classes. Students across all self-identified groups (LGBTI, ally, not an ally) reported significantly lower average responses for knowledge and comfort regarding transgender or intersex health in comparison to that of LGB. Students in their preclinical years reported lower levels of knowledge in comparison with students in their clinical years. Students who identified as LGBTI reported significantly higher knowledge and comfort with only LGB and transgender health when compared with students who didn't identify as LGBTI. Respondents more frequently requested additional learning opportunities in transgender and intersex health than in LGB health. CONCLUSION: Self-reported knowledge of transgender and intersex health lags behind knowledge of LGB health, though these deficits appear partially responsive to targeted educational intervention. ABBREVIATIONS: BUSM = Boston University School of Medicine LGB = lesbian, gay, and bisexual LGBT = lesbian, gay, bisexual, and transgender LGBTI = lesbian, gay, bisexual, transgender, and intersex M1 = first-year medical student class M2 = second-year medical student class M3 = third-year medical student class M4 = fourth-year medical student class.
[Mh] Termos MeSH primário: Atitude do Pessoal de Saúde
Competência Clínica
Currículo
Transtornos do Desenvolvimento Sexual
Educação de Graduação em Medicina
Estudantes de Medicina
Transexualismo
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Masculino
Minorias Sexuais e de Gênero
Inquéritos e Questionários
Pessoas Transgênero
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170524
[St] Status:MEDLINE
[do] DOI:10.4158/EP171758.OR


  10 / 7238 MEDLINE  
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[PMID]:28525341
[Au] Autor:Dzimira S; Nizanski W; Madej JA
[Ad] Endereço:.
[Ti] Título:Morphological analysis of testicles in cats with disorders of sex development.
[So] Source:Pol J Vet Sci;20(1):123-131, 2017 Mar 28.
[Is] ISSN:1505-1773
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Disorders of sex development (DSD) are rare in cats. They can be caused by chromosomal aberrations, gene mutations or other undefined factors. The aim of the present study was to compare the histological structure and immunohistochemical reactivity of testes in cats with DSD and in healthy cats. The research material consisted of the gonads of four cats - phenotypic males with an incorrect structure of the reproductive system. The control group consisted of the testes of four healthy cats - routinely castrated phenotypical males. The material was fixed with formalin and embedded in paraffin; the sections were stained with hematoxylin and eosin. The immunohistochemical investigation were performed using monoclonal and polyclonal antibodies directed against desmin, vimentin, actin of smooth muscles, S100 protein and MCM3 protein. The results obtained allow concluding that the testes of cats with DSD differed in certain respects, mainly in the number of blood vessels, from the normal testes. Moreover, the results of immunohistochemical examination indicate that in the testes of cats with DSD the number of supporting cells is lower, the amount of interstitial cells is comparable and spermatogenesis is correct es compared to those determined in the control gonads. The number of blood vessels in cats with DSD is reduced by about 30%. It confirms the recommendations for castration of these animals in order to eliminate the potential inheritance of sex development disorders.
[Mh] Termos MeSH primário: Doenças do Gato/patologia
Transtornos do Desenvolvimento Sexual/veterinária
Testículo/patologia
[Mh] Termos MeSH secundário: Animais
Estudos de Casos e Controles
Gatos
Transtornos do Desenvolvimento Sexual/patologia
Cariótipo
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170629
[Lr] Data última revisão:
170629
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170520
[St] Status:MEDLINE



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