Navegando por Palavras-chave "disorders of sex development"

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    Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases
    (Elsevier B.V., 2011-12-01) Campoy Rocha, Vanessa Brito; Guerra-Junior, Gil; Marques-de-Faria, Antonia Paula; Mello, Maricilda Palandi de [UNIFESP]; Maciel-Guerra, Andrea Trevas; Universidade Estadual de Campinas (UNICAMP); Universidade Federal de São Paulo (UNIFESP)
    Objective: To determine the frequency of XY karyotypes among females with complete gonadal dysgenesis (CGD) and to investigate the frequency of both gonadal tumors and SRY mutations.Design: Retrospective study based on data from all patients with CGD seen in our service from 1989 to 2010.Setting: Clinic for disorders of sex development, University Hospital, State University of Campinas.Patient(s): Thirty-two patients with hypergonadotropic hypogonadism, streak gonads, internal and external female genitalia, and normal karyotype (46, XX or 46, XY); 31 were index cases and 29 did not have a previously determined karyotype.Intervention(s): None.Main Outcome Measure(s): None.Result(s): the percentage of XY karyotypes among patients with CGD was 34.5% (10/ 29). Mean age at diagnosis among XYand XX patients was 17.4 years and 19.9 years, respectively. Gonadal tumors were found in 4 of 9 XY girls, and 7 of 10 had SRY gene mutations.Conclusion(s): the previously unreported finding of an elevated frequency of 46, XY karyotype among patients with CGD and the high risk of gonadal neoplasia in such cases indicate that this diagnosis must be kept in mind by clinicians and strengthen the importance of karyotype analysis in females with primary hypogonadism. in addition, the frequency of SRY mutations in XY CGD might be higher than previously considered. (Fertil Steril (R) 2011; 96: 1431-4. (C) 2011 by American Society for Reproductive Medicine.)
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    Multifunctional role of steroidogenic factor 1 and disorders of sex development
    (Sbem-soc Brasil Endocrinologia & Metabologia, 2011-11-01) Mello, Maricilda Palandi de [UNIFESP]; França, Emerson Salvador de Souza; Fabbri, Helena Campos; Maciel-Guerra, Andrea Trevas; Guerra-Junior, Gil; Universidade Estadual de Campinas (UNICAMP); Universidade Federal de São Paulo (UNIFESP)
    Disorders of sex development (DSD) involve several conditions that result from abnormalities during gonadal determination and differentiation. Some of these disorders may manifest at birth by ambiguous genitalia; others are diagnosed only at puberty, by the delayed onset of secondary sexual characteristics. Sex determination and differentiation in humans are processes that involve the interaction of several genes such as WT1, NR5A1, NR0B1, SOX9, among others, in the testicular pathway, and WNT4, DAX1, FOXL2 and RSPO1, in the ovarian pathway. One of the major proteins in mammalian gonadal differentiation is the steroidogenic nuclear receptor factor 1 (SF1). This review will cover some of the most recent data on SF1 functional roles and findings related to mutations in its coding gene, NR5A1. Arq Bras Endocrinol Metab. 2011;55(8):607-12
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    Ovotesticular disorder of sex development with unusual karyotype: patient report
    (Walter de Gruyter Gmbh, 2015-05-01) Paula, Georgette Beatriz; Ribeiro Andrade, Juliana Gabriel; Guaragna-Filho, Guilherme; Sewaybricker, Leticia Esposito; Miranda, Marcio Lopes; Maciel-Guerra, Andrea Trevas; Guerra-Junior, Gil; Universidade Estadual de Campinas (UNICAMP); Universidade Federal de São Paulo (UNIFESP)
    Background: Ovotesticular disorder of sex development (OT-DSD) (true hermaphroditism) is an anatomopathological diagnosis based on the findings of testicular and ovarian tissues in the same subject, in the same gonad (ovotestis), or in separate gonads. OT-DSD is a rare cause of sex ambiguity, and the most common karyotype is 46, XX; mosaics and chimeras are found only in 10%-20%.Aim: To report a case of an OT-DSD patient with a rare karyotype constitution.Case report: A 2-month-old child with male sex assignment was referred to our clinic for investigation of sex ambiguity. He was the second child of healthy unrelated parents; pregnancy and labor were uneventful. On physical examination, he had a 2.3-cm phallus and perineal hypospadias (Prader grade III); the right gonad was in the labioscrotal fold and the left was found in the inguinal channel. Karyotype was 46,XX/47,XXY/48,XXYY. Anatomopathological examination of gonads revealed right testis and left ovotestis. the male sex assignment was maintained; the child underwent left gonadectomy, removal of Mullerian structures and urethroplasty.Conclusion: A thorough revision of literature revealed a single case of OT-DSD with the same chromosome constitution. Gonadal biopsy is necessary to establish diagnosis in cases of sex chromosome mosaicism.