Male patient 46,XX SRY-negative and unambiguous genitalia: A case report / Paciente masculino con cariotipo 46 XX negativo para el gen SRY y sin ambigüedad genital: reporte de un caso

In most cases, male sexual differentiation occurs with SRY gene mediation. However, exceptional genotypes have been identified, as shown in this paper. This was a male adult patient seen at the Servicio de Paternidades, Instituto de Genética, Universidad Nacional de Colombia. The following procedures were carried out: Amelogenin gene and short tandem repeat analyses using human identification commercial kits, conventional karyotype, SRY fluorescent in situ hybridization, PCR analysis for Y chromosome microdeletions, clinical evaluation, and genetic counseling. We present an adult male with unambiguous genitalia, karyotype 46,XX, and an SRY negative and ZFY positive molecular profile. The diagnosis of nonsyndromic 46,XX testicular disorder of sex development (DSD) -a rare genetic condition- was established. Only 20 % of similarly diagnosed patients are SRY negative and exhibit diverse molecular profiles. Until now, available evidence seems to indicate that, even in the absence of SRY, the ZFY factor is involved in male sexual differentiation.

En la mayoría de los casos, la diferenciación sexual masculina ocurre con la participación del gen SRY. Sin embargo, se pueden presentar otros genotipos excepcionales, como en el caso que se presenta en este reporte. Se trata de un paciente adulto de sexo masculino atendido en el Servicio de Paternidades del Instituto de Genética de la Universidad Nacional de Colombia. Se le hicieron los análisis del gen de la amelogenina y de repeticiones cortas en tándem (Short Tandem Repeat, STR) específicas para el gen SRY con estuches comerciales de identificación humana, así como los de cariotipo convencional e hibridación in situ fluorescente del SRY, y el estudio de microdeleciones del cromosoma Y mediante reacción en cadena de la polimerasa (PCR). Se le hizo la evaluación clínica y se le brindó asesoramiento genético. El paciente no presentaba ambigüedad genital, su cariotipo era 46 XX, y el perfil molecular era negativo para el gen SRY y positivo para el ZFY. Se le diagnosticó un trastorno de diferenciación sexual 46 XX testicular no sindrómico, una rara condición genética. Solo el 20 % de los pacientes con este diagnóstico son negativos para SRY y exhiben perfiles moleculares diversos. La información disponible parece indicar que el ZFY está relacionado con la diferenciación sexual masculina, aún en ausencia del gen SRY.

Paciente masculino con cariotipo 46 XX negativo para el gen SRY y sin ambigüedad genital: reporte de un caso / Male patient 46, XX SRY -negative and unambiguous genitalia: A case report

En la mayoría de los casos, la diferenciación sexual masculina ocurre con la participación del gen SRY. Sin embargo, se pueden presentar otros genotipos excepcionales, como en el caso que se presenta en este reporte. Se trata de un paciente adulto de sexo masculino atendido en el Servicio de Paternidades del Instituto de Genética de la Universidad Nacional de Colombia. Se le hicieron los análisis del gen de la amelogenina y de repeticiones cortas en tándem (Short Tandem Repeat, STR) específicas para el gen SRY con estuches comerciales de identificación humana, así como los de cariotipo convencional e hibridación in situ fluorescente del SRY, y el estudio de microdeleciones del cromosoma Y mediante reacción en cadena de la polimerasa (PCR). Se le hizo la evaluación clínica y se le brindó asesoramiento genético. El paciente no presentaba ambigüedad genital, su cariotipo era 46 XX, y el perfil molecular era negativo para el gen SRY y positivo para el ZFY. Se le diagnosticó un trastorno de diferenciación sexual 46 XX testicular no sindrómico, una rara condición genética. Solo el 20 % de los pacientes con este diagnóstico son negativos para SRY y exhiben perfiles moleculares diversos. La información disponible parece indicar que el ZFY está relacionado con la diferenciación sexual masculina, aún en ausencia del gen SRY.

In most cases, male sexual differentiation occurs with SRY gene mediation. However, exceptional genotypes have been identified, as shown in this paper. This was a male adult patient seen at the Servicio de Paternidades, Instituto de Genética, Universidad Nacional de Colombia. The following procedures were carried out: Amelogenin gene and short tandem repeat analyses using human identification commercial kits, conventional karyotype, SRY fluorescent in situ hybridization, PCR analysis for Y chromosome microdeletions, clinical evaluation, and genetic counseling. We present an adult male with unambiguous genitalia, karyotype 46,XX, and an SRY negative and ZFY positive molecular profile. The diagnosis of nonsyndromic 46,XX testicular disorder of sex development (DSD) -a rare genetic condition- was established. Only 20 % of similarly diagnosed patients are SRY negative and exhibit diverse molecular profiles. Until now, available evidence seems to indicate that, even in the absence of SRY, the ZFY factor is involved in male sexual differentiation.

The sociocultural context of gynecological health among Haitian immigrant women in Florida: applying ethnographic methods to public health inquiry.

OBJECTIVE: Twalet deba, a culturally mediated feminine hygiene practice, is widespread in Little Haiti, the predominately Haitian neighborhood in Miami, Florida. This practice may have important implications for susceptibility to sexually transmitted infections, including human papillomavirus, the principal cause of cervical cancer. Previous research has not examined the full context of twalet deba in consideration of cultural beliefs and norms about women's hygiene and sexual health. DESIGN: Ethnographic methods guided two phases of exploratory research. The first phase included observation, participant observation, and semi-structured in-depth interviews, which were conducted with key consultants (n=6) and a subsequent purposive sample of 35 women regarding gynecological health beliefs, hygiene practices, and associated home remedy agents. These data informed the second research phase, which involved observation and informal interviews with owners of botanicas in Little Haiti, Miami, FL, USA, to assess the availability of various ethnomedical remedies, their preparation, and preferred uses. All data were analyzed qualitatively to discern patterns in interview responses and using grounded theory to identify key themes. RESULTS: Cultural constructions of gynecological health and illness were generally incongruent with the biomedical model and emphasized the control of self-defined non-specific vaginal infections through routine hygienic practices using ethnobotanical and commercial agents to avert illness, including cancer. Such practices also encourage vaginal tightness and dryness, characteristics desired by male sexual partners, on whom women were frequently economically dependent. Data from the second phase of research reinforced these findings and revealed a wide variety of feminine hygiene agents available for purchase in local botanicas. CONCLUSION: The results suggest that cultural beliefs about gynecological health and dependence on male partners influence women's routine feminine hygiene practices. Botanicas are culturally salient sites for health information. Ethnographic methods were critical for collecting personal sensitive data that are necessary to inform future intervention.

Barriers to cervical cancer screening among Haitian immigrant women in Little Haiti, Miami.

Previous research has not examined barriers to Pap test screening among Haitian immigrant women through their own discourse. Community Health Workers conducted in-depth interviews with Haitian women in Little Haiti, Miami. We used a grounded theory approach to analyze data from the in-depth interviews. Emergent themes coalesced into three core categories of screening barriers: structural, psychosocial, and sociocultural. We developed a model of screening barriers to depict the themes within each core category. Screening barriers must be examined and understood from the social contexts in which they are produced in order to create meaningful interventions.

Assessing the acceptability of self-sampling for HPV among Haitian immigrant women: CBPR in action.

OBJECTIVE: To determine whether pairing self-sampling for HPV with community health workers (CHWs) is a culturally acceptable method for cervical cancer screening among Haitian immigrant women residing in Little Haiti, the predominately Haitian neighborhood in Miami, FL. METHODS: As part of a larger, ongoing community-based participatory research (CBPR) initiative in Little Haiti, Haitian CHWs recruited 246 eligible women to this study. Participants provided self-collected cervical specimens for HPV testing and answered a series of questions about their experience with self-sampling for HPV. RESULTS: The vast majority of women (97.6%) was comfortable using the self-sampler at home, would recommend this screening method to their friends and/or family members (98.4%), and described the sampler as easy to use (95.1%). Additionally, 97% of all self-collected specimens were deemed adequate for HPV testing. CONCLUSIONS: When paired with CHWs, who are of Haitian descent and well respected in Little Haiti, self-sampling is a highly acceptable method of cervical screening for Haitian women in this ethnic enclave. This approach addresses critical access barriers, including poverty, language difficulties, and sociocultural concerns about modesty, that may similarly affect Pap smear utilization among other immigrant or medically underserved population sub-groups. Coupled with generally positive reviews of the device, the low rate of insufficient specimens for testing suggests that this device is promising for use in non-clinical settings.

Community-based participatory research in Little Haiti: challenges and lessons learned.

BACKGROUND: Community-based participatory research (CBPR) is an effective methodology for developing relevant interventions with socially marginalized communities. However, implementing CBPR methods is challenging for several reasons. This paper presents challenges encountered in the context of an ongoing CBPR initiative in Little Haiti in Miami, Florida, and describes the solutions used to address them. OBJECTIVES: We sought to describe the challenges faced and lessons learned while conducting CBPR in Little Haiti. METHODS: Community-academic partnerships were created to guide the creation of culturally relevant cancer interventions and research. LESSONS LEARNED: Historical distrust of research, cultural constructions of health and illness, and literacy issues are key considerations when developing partnerships with Haitian and other marginalized, immigrant communities. CONCLUSIONS: Partnerships are fostered over time through demonstrated mutual commitment to improving health and building community capacity. Communities must play an active role throughout the research process to ensure that studies are culturally relevant, and ensuing intervention, sustainable.