Perfil clínico de 62 casos de distúrbios da diferenciação sexual

Andrade, Juliana Gabriel Ribeiro de; Martins, Rosa Rita S.; Caldas, Dayse; Brasil, Jucimar; Meiriño, André Luiz A.; Jung, Monica de Paula

doi:10.1590/s0103-05822008000400003

Cited by 4 publications

(3 citation statements)

References 9 publications

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“…59 patients (63.4%) were registered as males, 31 (33.3%) were raised or registered as females, two had their civil registration altered to male. Andrade et al ( 13 ) described the clinical profile of 62 patients with DSD, and 36 of them were registered as males, and among the 28 patients with X, Y karyotype, only 2 had a female civil registration. Brandão ( 14 ) studied 50 patients with DSD 46, XY and 66% were defined as males.…”

Section: Discussionmentioning

confidence: 99%

Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center

et al. 2015

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The term DSD refers to disorders that affect the normal process of sexual development causing disagreement between chromosomal, gonadal and phenotypic sex, and this study aimed to describe the clinical profile of a group with DSD 46, XY joined on DSD Clinic of Hospital of Salvador, Bahia Clinics. It was a retrospective study of medical records of survey data of 93 patients with DSD 46, XY. Among the patients studied 50.5% had no defined etiology and 20.4% had androgen insensitivity syndrome (AIS), 63.4% had been initially recorded in males, 31 (33.3%) in females, being that in two it was necessary to reassignment. All patients with complete AIS pure gonadal dysgenesis and had female genitalia. Others have been diagnosed with genital ambiguity or severe hypospadias and cryptorchidism. The gonads were palpable at the first consultation in 75.3% of patients. It is important to establish an active surveillance program for these patients. The first assessment took place before the age of ten in more than 50% of cases, which shows that much needs to be done for medical education and community about the DSD. Because the phenotypic variability of sexual development disorders was noted that the clinical profile of patients studied ranged between different etiologies, including hindering the diagnostic conclusion of these individuals.

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Section: Discussionmentioning

confidence: 99%

Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center

et al. 2015

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“…Trata-se de um desenvolvimento atípico ou incongruente do sexo genético, gonadal ou anatômico 4 , cuja prevalência é de 1:3000 a 1:5000 nascimentos 5,6 . É recomendável que a identificação de casos de ADS ocorra no período neonatal, momento em que uma investigação cuidadosa facilitaria o diagnóstico precoce para então iniciar as intervenções e o tratamento, prevenindo-se problemas emocionais e dificuldades de relacionamento social 7 .…”

Section: Introductionunclassified

“…Estudos sobre ADS já foram publicados, sendo a maioria na área médica com enfoque no tratamento 8 . Poucos investigaram questões emocionais relacionadas a estas anomalias, com destaque para habilidades facilitadoras de boas relações interpessoais nesses indivíduos [9][10][11][12][13] . Tais habilidades, intituladas habilidades sociais (HS), incluem não só a verbalização como também a expressão facial, a postura, o contato visual, gestos, cuidados com a aparência física, dentre outros 14 .…”

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Avaliação de habilidades sociais em pacientes com anomalias da diferenciação sexual

Sardinha¹,

Ferreira²

2017

PRMJ

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PsicologiaCopyright Sardinha et al. Este é um artigo publicado em acesso aberto (Open Access) sob a licença Creative Commons Attribution, que permite uso, distribuição e reprodução em qualquer meio, sem restrições desde que o trabalho original seja corretamente citado. Summary Disorders of sex development (SDS) correspond to a set of congenital malformations in the genitalia. It is common for individuals with SDS to present difficulties in social interactions; however, there are few studies on this topic. The term Social Skills (SS) refers to behavioral repertoires characterized by satisfactory social interactions. Purpose: In this study, the SS-related behaviors were evaluated in individuals with SDS attended at a specialized outpatient clinic. Methods: Nine adults aged between 21 and 35 participated in the study. We used the Protocol for medical record analysis, semi-structured Interview Script and Social Skills Inventory (SSI). The mean and standard deviation of all the participants, categorized according to gender identity, were compared with the mean and standard deviation of the male and female normative sample of SSI. Results: The results indicated a deficit of SS in all participants in the five SSI factors. Conclusion: We discussed the importance of early intervention on individuals with SDS for the prevention of SS deficits in addition to conventional medical treatment. ARTIGO DE PESQUISA

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Prevalence of genital abnormalities in neonates

Monlleó¹,

Zanotti²,

Araújo³

et al. 2012

J Pediatr (Rio J)

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Objectives: To assess the prevalence of genital abnormalities among neonates in two public maternity-schools. Methods:Case-control, cross-sectional descriptive study. Genital morphology of 2,916 neonates was assessed using a clinical protocol between 04/19/2010 and 04/18/2011. Control group included neonates without birth defects, born at the same maternity unit and in the same day in which a case was identified. Fisher and Kruskal-Wallis tests were used for statistics. Results:The study identified 29 (1:100) neonates with genital abnormalities. Most of them were examined within 3 days of life and presented only one genital defect. Morphological abnormalities comprised: genital ambiguity (1/29), fusion of labia majora (1/29), micropenis (2/29), enlarged clitoris (6/29), hypospadia (9/29), and combined defects (4/29). Only one case reported the genital abnormality in the statement of live birth correctly. Prematurity occurred in 13/29 cases and was the only variable statistically associated with genital defects. Eight cases agreed on the complementary investigation of the genital defect, among which three were diagnosed with disorder of sex development. Conclusions:There is a high prevalence of genital abnormalities in the maternity units included in the present study and most cases are under-diagnosed and under-reported. Our results reinforce the importance of a careful examination of genital morphology in neonatal period towards the recognition of minor defects that can be clinical features of a disorder of sex development.J Pediatr (Rio J). 2012;88(6):489-95: Genital abnormality, neonatal screening, disorders of sex development. ResumoObjetivos: Avaliar a prevalência e descrever alterações da morfologia genital em recém-nascidos em duas maternidades-escola de gestão pública. Métodos:Estudo caso/controle, descritivo, transversal. Utilizou-se protocolo clínico para avaliação da morfologia genital de 2.916 recém-nascidos entre 19/04/2010 e 18/04/2011. O grupo controle foi formado pelos nascimentos sem anormalidades morfológicas ocorridos no dia e na maternidade em que o caso foi detectado. Teste exato de Fisher foi utilizado para análises de variáveis categóricas, e de Kruskal-Wallis, para igualdade de médias. Resultados:Foram detectados 29 recém-nascidos com anormalidade genital (1:100). A maioria (93,2%) foi examinada nos três primeiros dias de vida e apresentava apenas uma anormalidade. Os defeitos morfológicos compreenderam: ambiguidade genital evidente (1/29), fusão posterior de grandes lábios (1/29), micropênis (2/29), clitoromegalia (6/29), criptorquidia bilateral (6/29), hipospádia (9/29) e defeitos combinados (4/29) casos. Em apenas um caso os campos da Declaração de Nascido Vivo foram preenchidos corretamente. Prematuridade foi observada em 13/29, sendo esta a única variável estatisticamente associada à presença de anormalidade genital. Oito casos aderiram à proposta de investigação complementar, entre os quais três tiveram diagnóstico clínico de distúrbio da diferenciação do sexo. Conclusões:Ev...

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Perfil clínico de 62 casos de distúrbios da diferenciação sexual

Cited by 4 publications

References 9 publications

Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center

Clinical profile of 93 cases of 46, XY disorders of sexual development in a referral center

Avaliação de habilidades sociais em pacientes com anomalias da diferenciação sexual

Prevalence of genital abnormalities in neonates

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