Academic literature on the topic 'Infantilismo sexual'

A falência ovariana manifesta-se clinicamente por amenorréia primária ou secundária, e do ponto de vista hormonal caracteriza-se pelos níveis elevados de gonadotrofinas hipofisárias, principalmente FSH, cuja etiologia pode ser atribuída a varias causas, como redução numérica ou rearranjos do cromossomo X, entre outras. Além da síndrome de Turner (monossomia do cromossomo X, com ou sem mosaicismo cromossômico), cujo principal estigma - a baixa estatura - e o infantilismo sexual apontam o diagnóstico, rearranjos do braço longo de X (Xq), ou mutações instaladas em genes mapeados neste cromossomo estão relacionados com a falência ovariana em meninas pré-púberes e em mulheres adultas jovens, sem outros sinais clínicos. Neste cromossomo, nos segmentos da falência ovariana precoce (FOP1 e FOP2) situam-se genes já relacionados à insuficiência ovariana de instalação precoce. Esta revisão trata destas alterações, algumas detectadas pelas técnicas citogenéticas convencionais, outras somente por meio de recursos de biologia molecular

Henry Turner descreveu, em 1938, síndrome caracterizada por infantilismo sexual, pescoço alado e cubitus valgus. Disgenesia gonadal foi acrescentada à síndrome nos anos subsequentes e o critério exigido para sua confirmação diagnostica é a demonstração de cariótipo anormal, no qual é inexistente uma porção ou todos os de um cromossoma X. Ainda que nos dias atuais haja muita informação geral disponível sobre a síndrome de Turner, em relação a suas possíveis complicações neurológicas há inexplicável negligência. Nesta comunicação revemos o caso de uma paciente com esta síndrome, que desenvolveu epilepsia severa a partir dos 16 anos de idade. Em complementação, revisão das publicações sobre o assunto nos últimos 20 anos, com ênfase às alterações neurológicas associadas à condição, é apresentada. O constante aparecimento de malformações extracranianas, muitas das quais estando empírica e freqüentemente combinadas a anomalias no SNC, bem como a incidência relativamente alta de deficits nestas pacientes, parecem justificar a hipótese de que em certa porcentagem de casos, uma malformação do SNC, não necessariamente de tipo vascular, poderá ser parte ainda não descrita da síndrome.

In the article it is noted that when the age of physiological maturity is reached, most of mares do not go hunting because of genital infantilism. The authors' studies showed that in the group where the repair filly had a systematic communication with the vasectomized stallions at 36 months of age, the reproductive apparatus was well developed, there were no signs of genital infantilism. All mares were found at the age of 36–37 months, and they became foal, at the mares of the control group at the indicated age the sexual cycles did not appear regularly, signs of genital infantilism were noted. The authors note that the vasectomized stallion provides, normal development of the reproductive sexual system of the repair mares, the full formation and manifestation of sexual cycles. The use of vasectomized stallions allows for an early effective prevention of genital infantilism and infertility in repair mares. Dosed communication of fillies with vasectomized colts and sterile coitus during sexual development promoted the physiological development of the genitals and the full manifestation of the sexual cycle.

Purpose — study of the severity of secondary sexual characteristics in girls with general and genital infantilism in the early reproductive period. Materials and methods. 150 girls with general and genital infantilism were examined. All examined girls underwent clinical, functional, hormonal, biochemical, radiological, genetic and laboratory tests. The average age of girls was 19.56±0.13 (17–22) years. The average weight of the examined was within 55.37±1.56 (32–98) kg, height 1.57±0.13 (1.36–1.71) m. The body-mass index was 22.5±0.48 (15–48). The severity of secondary sexual characteristics was assessed according the J. Tanner scale. Results and conclusions. It was found that adolescents with general infantilism (hypogonadotropic hypogonadism) have a significant delay in the development of secondary sexual characteristics against the background of mild hirsutism (р<0.05). In Patients with genital infantilism (hypergonadotropic hypogonadism), significant axillary and suprapubic hair growth at the background of poor development of the mammary glands was noted. Also the moderate degree of hirsutism was confirmed. With normogonadotropic hypogonadism, the development of secondary sexual characteristics corresponds to similar indicators of practically healthy girls. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies. The authors declare no conflicts of interests. Key words: general infantilism, genital infantilism, hypogonadotropic hypogonadism, normogonadotropic hypogonadism, hypergonadotropic hypogonadism, hirsutism.

Shereshevsky-Turner syndrome is a chromosomal pathology related to partial or complete monosomia. Characteristic manifestations of this condition include growth retardation, sexual infantilism, and various inborn anomalies of the physical development. The present recommendations present information on etiology of this disease, its pre- and postnatal diagnostics, protocols of relevant studies and treatment of the patients belonging to different age groups.

Este artículo de reflexión es el resultado de la revisión analítica, interpretativa y crítica de los documentos, leyes y jurisprudencia relacionada con el derecho al olvido de los pederastas, la pedofilia y la pederastia, cumpliendo con los objetivos principales de clarificar los conceptos objeto de discusión y formular posibles alternativas frente a las escasas limitaciones para la vinculación al mercado laboral de quienes han sido condenados por delitos sexuales contra menores de catorce años. Mediante la utilización del tipo de investigación dogmática, descriptiva y de análisis estático de precedente se logró concluir que la pedofilia, al ser una enfermedad incurable, debe ser tratada con el fin de evitar su materialización en la pederastia y, como medida preventiva de delitos, el Congreso de la República de Colombia ostenta la misión de reglar el manejo de las bases de datos de los condenados por estos delitos a través de una ley estatutaria.
 Referencias
 American Psychiatric Association. (2014). DSM-5. Guía de Consulta de los Criterios Diagnósticos del DSM-5. Argentina: Editorial Médica Panamericana.Bertini, C., De Luca, S., Fariña, N., Ganduglia, A. y Sisini, N. (2005). El maltrato hacia los niños. En Giberti, E. (Comp.), Abuso sexual y malos tratos contra niños, niñas y adolescentes. Perspectiva psicosocial y social (239-258). Buenos Aires, Argentina: Espacio Editorial.Bohórquez, L. y Bohórquez, J. (2008). Diccionario Jurídico Colombiano (8a. ed.). Bogotá, Colombia: Editora Jurídica Nacional.Botero Martínez, J. (2014). Sobre la Inimputabilidad: ¿Algo más que decir? ¿Los estados similares son una causal autónoma o amplificadora de la inimputabilidad? Sentido y alcance de los “estados similares”. Opinión Jurídica, 13(25), 207-208.Botero Bernal, J. (Comp.). (2018). Código Penal Colombiano (Ley 599 de 2000). Recuperado de http://perso.unifr.ch/derechopenal/assets/files/legislacion/l_20160208_02.pdfCastillero, O. (s.f.). Diferencias entre pedofilia y pederastia. Recuperado de https://psicologiaymente.net/clinica/diferencias-pedofilia-pederastiaCongreso de la República de Colombia. (s.f.). Proyecto de Ley “por el cual se tutela el derecho al libre desarrollo sexual de las niñas y niños menores de 14 años”. Recuperado de http://www.legisaldia.com/BancoMedios/Archivos/pl-041-16c-base-de-datos-pedofilos.pdf-------. (1991). Ley 12 de 1991 “por medio de la cual se aprueba la Convención sobre los Derechos del Niño adoptada por la Asamblea General de las Naciones Unidas el 20 de noviembre de 1989”. Recuperado de https://www.unidadvictimas.gov.co/sites/default/files/documentosbiblioteca/ley-12-de-1991.pdf-------. (1993). Ley 65 de 1993 “por la cual se expide el Código Penitenciario y Carcelario”. Recuperado de http://wp.presidencia.gov.co/sitios/normativa/leyes/Documents/Juridica/Ley%2065%20de%201993.pdf-------. (2000). Ley 599 de 2000 “por la cual se expide el Código Penal”. Recuperado de https://www.unodc.org/res/cld/legislation/can/codigo-penal_html/Codigo_Penal.pdf-------. (2002). Ley 734 de 2002 “por la cual se expide el Código Disciplinario Único”. Recuperado de http://secretariageneral.gov.co/transparencia/marco-legal/normatividad/ley-734-2002-------. (2004). Ley 890 de 2004 “aplicable a procesos de Ley 600 de 2000”. Recuperado de http://www.cortesuprema.gov.co/corte/index.php/2018/05/10/ley-890-de-2004-aplicable-a-procesos-de-ley-600-de-2000/-------. (2006). Ley 1098 de 2006 “por la cual se expide el Código de la Infancia y la Adolescencia”. Recuperado de https://www.icbf.gov.co/cargues/avance/docs/ley_1098_2006.htm-------. (2008). Ley 1236 de 2008 “por medio de la cual se modifica algunos artículos del Código Penal relativos a delitos de abuso sexual”. Recuperado de http://www.oas.org/dil/esp/ley_1236_de_2008_colombia.pdf-------. (2009). Ley 1336 de 2009, “por medio del cual se adiciona y robustece la Ley 679 de 2001, de lucha contra la explotación, la pornografía y el turismo sexual con niños, niñas y adolescentes”. Recuperado de https://diario-oficial.vlex.com.co/vid/robustece-pornografia-adolescentes-61325313-------. (2016). Proyecto de Ley Estatutaria Nº 112 de 2016 “por medio de la cual se crea el Registro Nacional de Ofensores Sexuales”. Recuperado de http://leyes.senado.gov.co/proyectos/images/documentos/Textos%20Radicados/proyectos%20de%20ley/2016%20-%202017/PL%20112-16%20REGISTRO%20NACIONAL%20DE%20OFENSORES%20SEXUALES.pdf-------. (2018). Ley 1918 de 2018 “por medio de la cual se establece el régimen de inhabilidades a quienes hayan sido condenados por delitos sexuales contra menores, se crea el Registro de inhabilidades y se dicta otras disposiciones”. Bogotá, Colombia. Recuperado de http://www.funcionpublica.gov.co/eva/gestornormativo/norma.php?i=87420Consejo Superior de Política Criminal. (s.f.). Consejo Superior de Política Criminal. Recuperado de http://www.politicacriminal.gov.co/Portals/0/Conceptos/ConceptosCSPC/2016/22%20CSPC%20PLE%20112,%20PL%2087S%20y%2041C%20(Registro%20agresores%20sexuales).pdfCorte Constitucional. República de Colombia. (Junio de 1992). Sentencia T-414/92. [MP Ciro Angarita Barón]. Bogotá, Colombia. Recuperado de http://www.corteconstitucional.gov.co/relatoria/1992/t-414-92.htm-------. (Julio de 1992). Sentencia T-444/92. [MP Alejandro Martínez Caballero]. Bogotá, Colombia. Recuperado de http://www.corteconstitucional.gov.co/relatoria/1992/T-444-92.htm-------. (Marzo de 1995). Sentencia SU-082/95. [MP Jorge Arango Mejía]. Bogotá, Colombia. Recuperado de https://vlex.com.co/tags/sentencia-su-082-95-corte-constitucional-565292-------. (Septiembre de 2002). Sentencia T-729/02. [MP Eduardo Montealegre Lynett]. Bogotá, Colombia. Recuperado de http://www.corteconstitucional.gov.co/relatoria/2002/t-729-02.htm-------. (Diciembre de 2002). Sentencia T-1066/02. [MP Jaime Araujo Rentería]. Bogotá, Colombia. Recuperado de http://www.corteconstitucional.gov.co/relatoria/2002/c-1066-02.htm-------. (Marzo de 2003). Sentencia C-185/03. [MP Eduardo Montealegre Lynett]. Bogotá, Colombia. Recuperado de http://www.corteconstitucional.gov.co/relatoria/2003/C-185-03.htm-------. (Enero de 2008). Sentencia C-061 de 2008. [MP Nilson Pinilla Pinilla]. Bogotá, Colombia. Recuperado de http://www.corteconstitucional.gov.co/relatoria/2008/C-061-08.htm-------. (Marzo de 2008). Sentencia T-284/08. [MP Clara Inés Vargas Hernández]. Bogotá, Colombia. Recuperado de http://www.corteconstitucional.gov.co/relatoria/2008/T-284-08.htm-------. (Octubre de 2008). Sentencia C-1011/08. [MP Jaime Córdoba Triviño]. Bogotá, Colombia. Recuperado de http://www.corteconstitucional.gov.co/relatoria/2008/C-1011-08.htm-------. (Marzo de 2010). Sentencia T-164/10. [MP Jorge Iván Palacio Palacio]. Bogotá, Colombia. Recuperado de http://www.corteconstitucional.gov.co/relatoria/2010/T-164-10.htm-------. (Junio de 2012). Sentencia SU-458/12. [MP Adriana María Guillén Arango]. Bogotá, Colombia. Recuperado de http://www.corteconstitucional.gov.co/RELATORIA/2012/SU458-12.htm-------. (Mayo de 2015). Sentencia T-277-15. [MP María Victoria Calle Correa]. Bogotá, Colombia. Recuperado de http://www.corteconstitucional.gov.co/relatoria/2015/t-277-15.htmCorte Suprema de Justicia. República de Colombia. (Agosto de 2015). Sentencia 20889. [MP Patricia Salazar Cuellar]. Bogotá, Colombia. Recuperado de http://legal.legis.com.co/document?obra=jurcol&document=jurcol_0606b12290a641419649d2c5ec3b8486Christopher’s Law (Sex Offender Registry), 2000 S.O. Recuperado de https://www.ontario.ca/laws/statute/00c01Cifuentes, S., Grupo Centro de Referencia Nacional sobre Violencia e Instituto Nacional de Medicina Legal y Ciencias Forenses. (2015). Exámenes médico legales por presunto delito sexual. Colombia, 2015. Recuperado de http://www.medicinalegal.gov.co/documents/20143/49523/Violencia+sexual.pdfDada, C. (17 de agosto de 2018). Pensilvania es el caso de abuso más preocupante en EE. UU. El Espectador. Recuperado de https://www.elespectador.com/noticias/el-mundo/pensilvania-es-el-caso-de-abuso-mas-preocupante-en-ee-uu-articulo-806746Echeburúa, E. y Guerricaechevarría, C. (2009). Abuso Sexual en la Infancia: Víctimas y agresores. Un enfoque clínico. Barcelona, España: Editorial Ariel.Fondo de las Naciones Unidas para la Infancia (UNICEF). (2006). Convención sobre los Derechos del Niño. Recuperado de http://www.un.org/es/events/childrenday/pdf/derechos.pdfGobierno de España. Ministerio de la Presidencia, Relaciones con las Cortes e Igualdad. (28 de julio 2015). Ley 26/2015 “de modificación del sistema de protección a la infancia y a la adolescencia”. Recuperado de https://www.boe.es/buscar/act.php?id=BOE-A-2015-8470Humanium. (s.f.). Declaración de Ginebra sobre los Derechos del Niño, 1924. Recuperado de https://www.humanium.org/es/ginebra-1924/-------. (s.f.). Declaración de los Derechos del Niño, 1959. Recuperado de https://www.humanium.org/es/declaracion-1959/Instituto Colombiano de Bienestar Familiar (ICBF). (2017). Tratados y Convenios Internacionales en materia de niñez y de familia. Recuperado de https://www.icbf.gov.co/tratados-y-convenios-internacionales-en-materia-de-ninez-y-de-familia.Legislación Informática de Estados Unidos. (1994). Jacob Wetterling Crimes against Children and Sexually Violent Offender Registration Act. Recuperado de http://www.informatica-juridica.com/legislacion/estados-unidos/Lopera, G. y Arias, D. (2010). Principio de Proporcionalidad y Derechos Fundamentales en la Determinación Judicial de la Pena. Bogotá, Colombia: Panamericana Formas e Impresos.López, F., Carpintero, E., Hernández, A., Martin M. y Fuertes, A. (1995). Prevalencia y consecuencias del abuso sexual al menor en España. Child Abuse & Neglect, 19(9), 1039-1050.Lozano, C. (2013). ¿Qué es el Estado social y democrático de derecho? Bogotá, Colombia: Imprenta Nacional de Colombia.Ministerio de la Protección Social. (2007). Resolución No. 2346 “por la cual se regula la práctica de evaluaciones médicas ocupacionales y el manejo y contenido de las historias clínicas ocupacionales”. Recuperado de https://vlex.com.co/vid/-495385211Ministerio del Interior y Seguridad Pública. Subsecretaría del Interior. (19 de junio de 2012). Ley 20594 de 2012 “Crea inhabilidades para condenados por delitos sexuales contra menores y establece registro de dichas inhabilidades”. Recuperado de https://www.leychile.cl/Navegar?idNorma=1041136Ministerio de Tecnologías de la Información y las Telecomunicaciones. (2012). Decreto 019 de 2012 “por el cual se dicta normas para suprimir o reformar regulaciones, procedimientos y trámites innecesarios existentes en la Administración Pública”. Recuperado de https://www.mintic.gov.co/portal/604/w3-article-3567.htmlMontes, R. (24 de mayo de 2018). Catorce sacerdotes suspendidos en Chile por denuncias de abusos sexuales. El País. Recuperado de https://elpais.com/internacional/2018/05/23/america/1527042814_750171.htmlNaciones Unidas. (s.f.). Declaración Universal de los Derechos Humanos. Recuperado de http://www.un.org/es/universal-declaration-human-rights/Oficina del Alto Comisionado para los Derechos Humanos (ACNUDH). (2018). Pacto Internacional de Derechos Civiles y Políticos. Recuperado de https://www.ohchr.org/sp/professionalinterest/pages/ccpr.aspxOrganización de los Estados Americanos (OEA). (2015). Declaración Americana de los Derechos y Deberes del Hombre. Recuperado de http://www.oas.org/es/cidh/mandato/Basicos/declaracion.aspOrganización Panamericana de la Salud. (2017). INSPIRE. Siete estrategias para poner fin a la violencia contra los niños y las niñas. Recuperado de https://www.unodc.org/documents/justice-and-prison-reform/Child-Victims/Executive_Summary-Spanish.pdfPresidencia de la República de Colombia. (2012). Decreto Ley 019 de 2012 “por el cual se dicta normas para suprimir o reformar regulaciones, procedimientos y trámites innecesarios existentes en la Administración Pública”. Bogotá, Colombia. Recuperado de http://wsp.presidencia.gov.co/Normativa/Decretos/2012/Documents/Enero/10/Dec1910012012.pdfQuamtum Future Group. (2014). Depredadores entre nosotros: entrevista con la doctora Anna Salter – SOTT Talk Radio. Recuperado de https://es.sott.net/article/40250-Depredadores-entre-nosotros-Entrevista-con-la-Dra-Anna-Salter-SOTT-Talk-Radio.República de Colombia. (1991). Constitución Política de Colombia. Recuperado de http://www.corteconstitucional.gov.co/inicio/Constitucion%20politica%20de%20Colombia.pdfRicaurte, A. (2017). Exámenes médico legales por presunto delito sexual. En Instituto Nacional de Medicina Legal y Ciencias Forenses (Eds.), Forensis 2016, Datos para la Vida (pp. 352-398). Bogotá, Colombia: Imprenta Nacional.Rodríguez, A. (2016). Pedófilos sin obstáculos: ¿A quién están protegiendo las leyes? Programa Séptimo día. Caracol televisión [Archivo de video]. Recuperado de http://noticias.caracoltv.com/septimo-dia/pedofilos-sin-obstaculos-quien-estan-protegiendo-las-leyesStekel, W. (1954). Infantilismo Psicosexual. Enfermedades psíquicas infantiles en los adultos. Buenos Aires, Argentina: Ediciones Imán.Tamayo, J. (15 de agosto de 2018). La pederastia, cáncer con metástasis. El País. Recuperado de https://elpais.com/autor/juan_jose_tamayo/aUniversidad Externado de Colombia. (2015). Luces y sombras del Derecho al olvido. Recuperado de http://dernegocios.uexternado.edu.co/comercio-electronico/colombia-luces-y-sombras-del-derecho-al-olvido/World Health Organization. (WHO). (2016). INSPIRE, Siete estrategias para poner fin a la violencia contra los niños. Recuperado de https://www.who.int/violence_injury_prevention/violence/inspire/INSPIRE_ExecutiveSummary_ES.pdf

Mainstream theorizing of paedophilia from the mid-1920s through to mid-1960, and even into the 1980s, was importantly psychodynamically oriented. The early history of the concept of paedophilia in early psychodynamic thought is problematic, however. Extant historical references are not without problems of their own, and have suffered from a lack of insight in the wider history of sexuality at this point of ‘erotic age preferences’. Review of primary sources highlights several contemporaneous interfaces of early psychodynamic theory: with the established forensic psychology of perpetrators of child sexual abuse; Krafft-Ebing's specific aetiological concept of age fetishism; early study and typologies of homosexual age preferences; emergent and divergent ideas about psychosexual infantilism; and strikingly late empirical attention to the psychiatry of the perpetrator of intergenerational incest.

Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma and dysgerminoma. A 16-year-old girl presented with progressive virilisation, poor breast development and primary amenorrhea. On evaluation, she was found to have male-range serum testosterone, large abdominopelvic mass lesion, elevated germ cell tumour markers and 46, XY karyotype. She underwent surgical excision of left gonadal mass and right streak gonad, histopathology of which revealed dysgerminoma and gonadoblastoma, respectively. A diagnosis of virilising germ cell tumour arising in the setting of 46, XY CGD was, therefore, made. This case highlights a rare presentation of 46, XY CGD and the need to consider early prophylactic gonadectomy in patients affected with this rare condition. The presence of dysgerminoma/gonadoblastoma should be suspected if a hitherto phenotypic female with CGD undergoes virilisation.

Patients bearing mutations in TAC3 and TACR3 (which encode neurokinin B and its receptor, respectively) have sexual infantilism and infertility due to GnRH deficiency. In contrast, Tacr3−/− mice have previously been reported to be fertile. Because of this apparent phenotypic discordance between mice and men bearing disabling mutations in Tacr3/TACR3, Tacr3 null mice were phenotyped with close attention to pubertal development, estrous cyclicity, and fertility. Tacr3−/− mice demonstrated normal timing of preputial separation and day of first estrus, markers of sexual maturation. However, at postnatal d 60, Tacr3−/− males had significantly smaller testes and lower FSH levels than their wild-type littermates. Tacr3−/− females had lower uterine weights and abnormal estrous cyclicity. Approximately half of Tacr3−/− females had no detectable corpora lutea on ovarian histology at postnatal d 60. Despite this apparent ovulatory defect, all Tacr3−/− females achieved fertility when mated. However, Tacr3−/− females were subfertile, having both reduced numbers of litters and pups per litter. The subfertility of these animals was not due to a primary ovarian defect, because they demonstrated a robust response to exogenous gonadotropins. Thus, although capable of fertility, Tacr3-deficient mice have central reproductive defects. The remarkable ability of acyclic female Tacr3 null mice to achieve fertility is reminiscent of the reversal of hypogonadotropic hypogonadism seen in a high proportion of human patients bearing mutations in TACR3. Tacr3 mice are a useful model to examine the mechanisms by which neurokinin B signaling modulates GnRH release.

Introdução: O termo distúrbios do desenvolvimento gonadal (DDG) inclui condições congênitas nas quais o desenvolvimento gonadal é atípico. Estudos feitos em camundongos observaram que alguns genes como o Cbx2 e o Tcf21 interferem na fase inicial do desenvolvimento gonadal, afetando tanto gônadas XX quanto XY. O gene Dhh, por sua vez, codifica o fator de transcrição Dhh, produzido pelas células de Sertoli, que é fundamental para a diferenciação das células de Leydig em gônadas XY. Nos ovários, o gene FOXL2 atua na foliculogênese, sendo fundamental para a formação dos ovários. Objetivos: Analisar clinicamente e pesquisar anormalidades nos genes CBX2, TCF21, DHH e FOXL2 em pacientes portadores de distúrbios do desenvolvimento gonadal 46, XY e 46, XX. Material e Métodos: Foram estudados 60 pacientes (41 com DDG 46, XY e 19 com DDG 46, XX). A análise molecular foi realizada a partir da amplificação gênica por PCR e sequenciamento direto. Resultados: Várias alterações alélicas foram encontradas nos quatro genes, algumas ainda não descritas na literatura. Uma alteração intrônica no gene DHH foi encontrada em um paciente com DDG 46, XY e não foi encontrada em nenhum dos 360 alelos normais estudados (g.IVS2 +29G>A). Estudamos essa variante através da extração do RNA do testículo do paciente afetado, mas não encontramos alteração no RNA; portanto ela parece não ser uma mutação. No gene TCF21, a variante encontrada foi identificada em controles normais. No gene CBX2, das treze alterações encontradas, uma não foi identificada em 206 alelos normais, e há troca de aminoácidos (p.C132R / g.394 T>C). Trata-se de uma variante que pode ter relação com o fenótipo do paciente, portador de DDG 46, XY. No gene FOXL2, das três alterações encontradas, uma não foi identificada em 206 alelos normais; contudo, não há troca de aminoácidos (p.A181A / g.543 C>T). Conclusão: Esse estudo sugere que mutações nos genes CBX2, TCF21, FOXL2 e DHH são causas raras de distúrbios do desenvolvimento gonadal.<br>Introduction: Congenital disorders of gonadal development (DGD) include conditions whose gonadal development is atypical. Studies in mice found that some genes such as Cbx2 and Tcf21 interfere in the initial phase of gonadal development, affecting both XX and XY gonads. Dhh gene, in turn, encodes the transcription factor Dhh, produced by Sertoli cells, which is essential for the differentiation of Leydig cells in XY gonads. In the ovaries, genes as FOXL2 act in folliculogenesis, fundamental to the development of the ovaries. Objectives: To analyze patients with disorders of gonadal development (DGD) 46, XY and 46, XX and research mutations in CBX2, TCF21, DHH and FOXL2 genes. Methods: We analyzed 60 patients (41 DGD 46, XY patients and 19 DGD 46, XX patients). The whole coding region of CBX2, TCF21, DHH and FOXL2 genes were amplified by PCR and direct sequenced. Results: Several allelic variations have been found in the four genes, some not even described by literature. One intronic variation in DHH was described in one patient with 46, XY DGD and it wasnt found in any of the 360 normal control alleles studied (g.IVS2 +29G>A). We studied this variant through RNA extraction from the affected patients testes, but we didnt find any alteration in the RNA, so it doesnt seem to be a mutation. In TCF21 gene, the single variant that was found was identified in normal controls. In CBX2 gene, among the 13 alterations described, one wasnt identified in 206 normal control alleles, and there is aminoacid change (p.C132R / g.394 T>C). This is a variant that may be a mutation, causing the patients phenotype that had 46, XY DGD. In FOXL2, among the 3 variations described, one wasnt indentified in 206 normal control alleles, but there wasnt amino acid change (p.A181A / g.543 C>T).Conclusion: This study suggests that mutations in CBX2, TCF21, FOXL2 and DHH genes are rarely causes of disorders of gonadal development.

The adult testis performs two principle functions: the synthesis and secretion of androgens, and the production of male germ cells, the spermatozoa. Testosterone is essential for male sexual differentiation, growth, and function of the male genital tract, secondary sexual characteristics, sexual potency, and production of spermatozoa. Hypogonadism may be due to disorders of the pituitary/hypothalamus (secondary or hypogonadotropic hypogonadism) or testes (primary or hypergonadotropic hypogonadism). Its symptoms and signs depend on the age of onset of androgen deficiency. Prepubertal presentation is with sexual infantilism, delayed puberty, and eunuchoidal body proportions. Male infertility may affect 5% of men of reproductive age and is caused by a heterogeneous group of disorders. The commonest cause (60% of cases) is ‘idiopathic’ azoo/oligozoospermia, although many cases are now recognized as due to discrete gene defects associated with impaired spermatogenesis. Other causes include cryptorchidism, testicular tumours, genital tract infection, obstructive azoospermia, and sperm autoimmunity.