Publicaciones científicas

Usos de lo psicosocial en la investigación y tratamiento de las intersexualidades/DSD
Autores: S. García Dauder, Nuria Greogri Flor, Inmaculada Hurtado García
Artículo publicado en Universitas Psychologica. Pontificia Universidad Javeriana de Bogotá

Los cuerpos ficticios de la biomedicina
El proceso de construcción del género en los protocolos médicos de asignación de sexo en bebés intersexuales. Núria Gregori. Revista de Antropología Iberoamericana Enero 2006
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Understanding differences and disorders of sex development (DSD)
Editores: Olaf Hiort (Lubeck, Alemania) y Faisal Ahmed (Glasgow, Reino Unido)
Participación de GrApSIA y Dra. Laura Audí en el capítulo3.4 – Past Experiences of adults with DSD

New managements in intersex debates
Nuria Gregori, Carmen Gallego and Silvia García-Dauder
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Actitud del médico frente a los síndromes de resistencia a la acción de los andrógenos
Revista Jano Enero-Febrero 2005 Vol. LXVIII nº1549
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Ethical principles and recommendations for the medical management of differences of sex development (DSD)/intersex in children and adolescents
Claudia Wiesemann, Susanne Ude-Koeller, Gernot H. G. Sinnecker, Ute Thyen
Abstract: The medical management of differences of sex development (DSD)/intersex in early childhood has been criticized by patients’ advocates as well as bioethicists from an ethical point of view. Some call for a moratorium of any feminizing or masculinizing operations before the age of consent except for medical emergencies. No exhaustive ethical guidelines have been published until now. In particular, the role of the parents as legal representatives of the child is controversial. In the article, we develop, discuss, and present ethical principles and recommendations for the medical management of intersex/DSD in children and adolescents. We specify three basic ethical principles that have to be respected and substantiate them. The article includes a critical discussion of the best interest of the child and of family privacy. The argumentation draws upon recommendations by the working group “Bioethics and Intersex” within the German Network DSD/Intersex, which are presented in detail. Unlike other recommendations with regard to intersex, these guidelines represent a comprehensive view of the perspectives of clinicians, patients, and their families. Conclusion The working group identified three leading ethical principles that apply to DSD management: (1) to foster the well-being of the child and the future adult, (2) to uphold the rights of children and adolescents to participate in and/or self-determine decisions that affect them now or later, and (3) to respect the family and parent–child relationships. Nine recommendations for the management of DSD indicate how these ethical principles can spelled out and balanced against each other in the clinical setting.
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Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development
L. Audi, M. Fernández-Cancio, A. Carrascosa, P. Andaluz, N. Torán, C. Piró, E. Vilaró , E. Vicens-Calvet, M. Gussinyé , M. A. Albisu, D. Yeste, M. Clemente, I. Hernández de la Calle, M. Del Campo, T. Vendrell, A. Blanco, J. Martínez-Mora, M. L. Granada, I. Salinas, J. Forn, J. Calaf, O. Angerri, M. J. Martínez-Sopena, J. del Valle, E. García, R. Gracia-Bouthelier, P. Lapunzina, E. Mayayo, J. I. Labarta, G. Lledó , J. Sánchez del Pozo, J. Arroyo, A. Pérez-Aytes, M. Beneyto, A. Segura, V. Borrás, E. Gabau, M. Caimarí, A. Rodríguez, M. J. Martínez-Aedo, M. Carrera, L. Castaño, M. Andrade, J. A. Bermúdez de la Vega, and Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA)
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Tumor risk in disorders of sex development
Pleskacova J, Hersmus R, Oosterhuis JW, Setyawati BA, Faradz SM, Cools M, Wolffenbuttel KP, Lebl J, Drop SL, Looijenga LH.
Department of Pediatrics, Charles University, 2nd Faculty of Medicine, Prague, Czech Republic.
Abstract: Certain patients with disorders of sex development (DSD), who bear Y chromosome material in their karyotype, are at increased risk for the development of type II germ cell tumors (GCT), which arise from early fetal germ cells. DSD gonads frequently harbor immature germ cells which express early fetal germ cell markers. Some of them (e.g. OCT3/4 and NANOG) seem to be of pathogenetic relevance in GCT development providing cells with the ability of pluripotency, proliferation and apoptosis suppression. Also TSPY (testis-specific protein Y-encoded), the main candidate for the so-called gonadoblastoma locus on Y chromosome, is overexpressed in germ cells of DSD patients and possibly contributes to their survival and proliferation. Nowadays, the use of immunohistochemical methods is highly relevant in identifying DSD gonads at risk. The risk for GCT development varies. While the prevalence of GCT is 15% in patients with partial androgen insensitivity, it may reach more than 30% in patients with gonadal dysgenesis. Patients with complete androgen insensitivity and ovotesticular DSD develop malignancies in 0.8% and 2.6% of cases, respectively. However, these data may be biased for various reasons. To better estimate the risk in individual groups of DSD, further investigations on large patient series are needed.

Gonadal tumours and DSD
Looijenga LH, Hersmus R, de Leeuw BH, Stoop H, Cools M, Oosterhuis JW, Drop SL, Wolffenbuttel KP.
Abstract: Disorders of sex development (DSD), previously referred to as intersex, has been recognised as one of the main risk factors for development of type II germ cell tumours (GCTs), that is, seminomas/dysgerminomas and non-seminomas (e.g., embryonal carcinoma, yolk sac tumour, choriocarcinoma and teratoma). Within the testis, this type of cancer is the most frequent malignancy in adolescent and young adult Caucasian males. Although these males are not known to have dysgenetic gonads, the similarities in the resulting tumours suggest a common aetiological mechanism(s),–genetically, environmentally or a combination of both. Within the group of DSD patients, being in fact congenital conditions, the risk of malignant transformation of germ cells is highly heterogeneous, depending on a number of parameters, some of which have only recently been identified. Understanding of these recent insights will stimulate further research, with the final aim to develop an informative clinical decision tree for DSD patients, which includes optimal (early) diagnosis without overtreatment, such as prophylactic gonadectomy in the case of a low tumour risk. opyright (c) 2009 Elsevier Ltd. All rights reserved.

Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers.
Cools M, Drop SL, Wolffenbuttel KP, Oosterhuis JW, Looijenga LH.
Department of Pathology, Erasmus MC-University Medical Center Rotterdam, Josephine Nefkens Institute, The Netherlands.
Abstract: The risk for the development of germ cell tumors is an important factor to deal with in the management of patients with disorders of sex development (DSD). However, this risk is often hard to predict. Recently, major progress has been made in identifying gene-products related to germ cell tumor development (testis-specific protein-Y encoded and octamer binding transcription factor 3/4) and in recognizing early changes of germ cells (maturation delay, preneoplastic lesions, and in situ neoplasia). The newly recognized «undifferentiated gonadal tissue» has been identified as a gonadal differentiation pattern bearing a high risk for the development of gonadoblastoma. It is expected that the combination of these findings will allow for estimation of the risk for tumor development in the individual patient (high risk/intermediate risk/low risk). This article reviews the recent literature regarding the prevalence of germ cell tumors in patients with DSD. Some major limitations regarding this topic, including a confusing terminology referring to the different forms of intersex disorders and unclear criteria for the diagnosis of malignant germ cells at an early age (maturation delay vs. early steps in malignant transformation) are discussed. Thereafter, an overview of the recent advances that have been made in our knowledge of germ cell tumor development and the correct diagnosis of early neoplastic lesions in this patient population is provided. A new classification system for patients with DSD is proposed as a tool to refine our insight in the prevalence of germ cell tumors in specific diagnostic groups.

The syndrome of testicular feminization in male pseudohermaphrodites
MORRIS JM. Am J Obstet Gynecol. 1953 Jun;65(6):1192-1211