Impact of transsexualizing process centers on self-medication of transgender individuals.

OBJECTIVE: The transgender population in Brazil faces marginalization and difficulties in accessing education and health, leading many individuals to self-medicate. This study aimed to evaluate the impact of the implementation of Specialized Centers in the Transsexualizing Process (SCTP) on the use of cross-sex hormone therapy (CSHT) without medical prescription, as well as the level of education and mental health profile of these individuals. METHODS: This is a cross-sectional study with data from physical and electronic medical records between September 2017 and February 2023 regarding the use of CSHT before and after the implementation of two SCTP in the state of Bahia, Brazil, in addition to data on education level, previous diagnosis of anxiety and depression of patients. RESULTS: A total of 219 participants, 127 transgender men (TM) and 92 transgender women and travestis (TrTW), were assessed. A significant reduction in the prevalence of self-medication was observed in both TrTW (92.98% before and 51.43% after, p<0.001), and TM (47.17% before and 25.67% after, p = 0.010) with the implementation of SCTP. Transgender individuals who used CSHT before accessing the service were found to have a lower prevalence of depression. Self-medication was not significantly associated with education or anxiety in our sample. CONCLUSION: The results indicate the need for the expansion of SCTP, as they were associated with lower rates of self-medication in the transgender population.

Impact of transsexualizing process centers on self-medication of transgender individuals

ABSTRACT OBJECTIVE The transgender population in Brazil faces marginalization and difficulties in accessing education and health, leading many individuals to self-medicate. This study aimed to evaluate the impact of the implementation of Specialized Centers in the Transsexualizing Process (SCTP) on the use of cross-sex hormone therapy (CSHT) without medical prescription, as well as the level of education and mental health profile of these individuals. METHODS This is a cross-sectional study with data from physical and electronic medical records between September 2017 and February 2023 regarding the use of CSHT before and after the implementation of two SCTP in the state of Bahia, Brazil, in addition to data on education level, previous diagnosis of anxiety and depression of patients. RESULTS A total of 219 participants, 127 transgender men (TM) and 92 transgender women and travestis (TrTW), were assessed. A significant reduction in the prevalence of self-medication was observed in both TrTW (92.98% before and 51.43% after, p<0.001), and TM (47.17% before and 25.67% after, p = 0.010) with the implementation of SCTP. Transgender individuals who used CSHT before accessing the service were found to have a lower prevalence of depression. Self-medication was not significantly associated with education or anxiety in our sample. CONCLUSION The results indicate the need for the expansion of SCTP, as they were associated with lower rates of self-medication in the transgender population.

Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.

CONTEXT: Massively parallel sequencing (MPS) technologies have emerged as a first-tier approach for diagnosing several pediatric genetic syndromes. However, MPS has not been systematically integrated into the diagnostic workflow along with clinical/biochemical data for diagnosing 46,XY differences of sex development (DSD). OBJECTIVE: To analyze the contribution of phenotypic classification either alone or in association with genetic evaluations, mainly MPS, for diagnosing a large cohort of 46,XY DSD patients. DESIGN/PATIENTS: 209 nonsyndromic 46,XY DSD index cases from a Brazilian DSD center were included. Patients were initially classified into 3 subgroups according to clinical and biochemical data: gonadal dysgenesis (GD), disorders of androgen secretion/action, and DSD of unknown etiology. Molecular genetic studies were performed by Sanger sequencing and/or MPS. RESULTS: Clinical/biochemical classification into either GD or disorders of hormone secretion/action was obtained in 68.4% of the index cases. Among these, a molecular diagnosis was obtained in 36% and 96.5%, respectively. For the remainder 31.6% classified as DSD of clinically unknown etiology, a molecular diagnosis was achieved in 31.8%. Overall, the molecular diagnosis was achieved in 59.3% of the cohort. The combination of clinical/biochemical and molecular approaches diagnosed 78.9% of the patients. Clinical/biochemical classification matched with the genetic diagnosis in all except 1 case. DHX37 and NR5A1 variants were the most frequent genetic causes among patients with GD and DSD of clinical unknown etiology, respectively. CONCLUSIONS: The combination of clinical/biochemical with genetic approaches significantly improved the diagnosis of 46,XY DSD. MPS potentially decreases the complexity of the diagnostic workup as a first-line approach for diagnosing 46,XY DSD.

Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.

BACKGROUND: Follow-up data on patients with 46,XY partial gonadal dysgenesis (PGD) until adulthood are scarce, making information on prognosis difficult. OBJECTIVE: To analyse the long-term outcomes of patients with 46,XY PGD regarding testosterone production, germ cell tumour risk, genotype and psychosexual adaptation. METHODS: A retrospective longitudinal study of 33 patients (20 assigned male and 13 patients assigned female at birth). Molecular diagnosis was performed by Sanger sequencing or by targeted massively parallel sequencing of 63 genes related to disorders of sex development (DSDs). RESULTS: Age at first and last visit ranged from 0.1 to 43 and from 17 to 53 years, respectively. Spontaneous puberty was observed in 57% of the patients. During follow-up, six of them had a gonadectomy (four due to female gender, and two because of a gonadal tumour). At last evaluation, five of six patients had adult male testosterone levels (median 16.7 nmol/L, range 15.3-21.7 nmol/L) and elevated LH and FSH levels. Germ cell tumours were found in two postpubertal patients (one with an abdominal gonad and one patient with Frasier syndrome). Molecular diagnosis was possible in 11 patients (33%). NR5A1 variants were the most prevalent molecular defects (n = 6), and four of five patients harbouring them developed spontaneous puberty. Gender change was observed in four patients, two from each sex assignment group; all patients reported satisfaction with their gender at final evaluation. Sexual intercourse was reported by 81% of both gender and 82% of them reported satisfaction with their sexual lives. CONCLUSION: Spontaneous puberty was observed in 57% of the patients with 46,XY PGD, being NR5A1 defects the most prevalent ones among all the patients and in those with spontaneous puberty. Gender change due to gender dysphoria was reported by 12% of the patients. All the patients reported satisfaction with their final gender, and most of them with their sexual life.

Valores elevados de leptina e LDL-colesterol em pacientes com hiperplasia adrenal congênita bem controlados / Elevated levels of leptin and LDL-cholesterol in patients with well controlled congenital adrenal hyperplasia

OBJETIVO: O objetivo deste estudo foi avaliar pacientes com HAC clássica antes e após tratamento com glicocorticoides e/ou mineralocorticoides e comparar o perfil metabólico entre o grupo bem controlado (BC) e mal controlado (MC). SUJEITOS E MÉTODOS: Foram selecionados pacientes recém-diagnosticados e pacientes em acompanhamento por HAC, forma clássica, em uso regular ou não de glicocorticoides/mineralocorticoides do Serviço de Genética do Hupes-UFBA, atendidos de março/2004 a maio/2006. Todos os pacientes foram submetidos a avaliação clínica detalhada e exames laboratoriais (glicemia, sódio e potássio, colesterol total, HDL, LDL, triglicerídeos, ácido úrico, leptina, 17-hidroxiprogesterona, testosterona total, peptídeo C e insulina). Os pacientes com valores normais de andrógenos foram classificados como bem controlados (BC) e os com valores elevados de andrógenos em uso ou não de glicocorticoides/mineralocorticoides foram classificados como mal controlados (MC). RESULTADOS: Foram estudados 41 pacientes com HAC: 11 no grupo BC e 30 no grupo MC. Leptina e LDL colesterol estavam mais elevados no grupo BC que no MC (p < 0,05). Valores de ácido úrico eram menores no grupo BC quando comparados com MC (p < 0,05). CONCLUSÃO: O controle adequado da HAC com glicocorticoides parece seguro, pois está associado a alterações discretas no perfil lipídico e da leptina. Não observamos outras alterações metabólicas associadas ao uso de glicocorticoides. O motivo para o menor valor de ácido úrico encontrado nos pacientes com HAC bem controlada não é conhecido e deve ser mais bem estudado.

OBJECTIVE: The objective of this study was to evaluate patients with classic CAH before and after treatment with glucocorticoids/mineralocorticoid and compare the metabolic profile of the well controlled (WC) and poorly controlled (PC) group. SUBJECTS AND METHODS: We selected newly diagnosed patients and patients monitored for CAH, classical form, regularly using or not glucocorticoids/mineralocorticoid in the Genetics Service Hupes-UFBA, seen from March/2004 to May/2006. All patients underwent detailed clinical evaluation and laboratory tests (glucose, sodium and potassium; total cholesterol, HDL, LDL, triglycerides and uric acid; leptin, 17-hydroxyprogesterone, total testosterone, C peptide, and insulin). Patients with normal androgens were classified as well controlled (WC), and those with high levels of androgens either using or not glucocorticoids/mineralocorticoids were classified as poorly controlled (PC). RESULTS: We studied 41 patients with CAH: 11 in the WC group and 30 in PC group. Leptin and LDL cholesterol levels were higher in WC than in the PC group (p < 0.05). Uric acid values ​​were lower in WC compared with the PC group (p < 0.05). CONCLUSION: Adequate control of CAH with steroids seems safe, as it is associated with only mild changes in lipid profile and leptin values. No other metabolic abnormality was associated with glucocorticoid use. The reason for lower uric acid levels found in WC CAH patients is unknown and should be further studied.

Programa nacional de eliminação da hanseníase: um estudo sobre a avaliabilidade do programa e das suas ações em âmbito estadual e municipal / National program of leprosy s elimination: a study about the program availability and its action in state and municipal spheres / Programa nacional para la eliminación de la enfermedad de hansen: un estudio de evaluación del programa y de sus acciones en el ámbito estadual y municipal

A hanseníase é uma doença infecciosa, de evolução crônica, causada pelo Mycobacterium leprae. É uma enfermidade estigmatizante e tem um passado de discriminação e isolamento dos doentes. O presente estudo objetiva verificar a avaliabilidade do Programa Nacional de Eliminação da Hanseníase para uma futura avaliação sistemática. A coleta de dados foi feita por meio de entrevistas com informantes-chaves, nas esferas estadual e municipal de governo, e observação sistemática in loco, para posterior comparação com o preconizado pelo plano selecionado. Houve grandes diferenças na definição do Programa e de seus objetivos por parte dos gestores. Há reuniões avaliativas em quase todos os níveis do sistema; as informações quanto ao controle dos comunicantes e a adesão ao tratamento, entretanto, ainda são discordantes. Os recursos estão sendo repassados como o previsto pela legislação brasileira, mas a falta de uma verba destinada exclusivamente para o controle da hanseníase dificulta seu manejo. Evidenciou-se que treinamentos para os profissionais de saúde são realizados, no entanto eles ainda parecem insuficientes. Concluiu-se que o Programa Nacional de Eliminação da Hanseníase é avaliável.

Leprosy is an infectious disease, of chronic evolution, caused by Mycobacterium leprae. Its a stigmatizating illness with a past of discrimination and isolation of patients. This study aims verify the availability of the National Program of Leprosy?s Elimination for a future systematic evaluation of the Program. Data collection was done through interviews with key informers, in the statel and municipal levels of government, and systematic observation in-loco, for posterior comparison with the recommended by selected plan. There was a large variability in the definition of the Program and its goals by the managers. There were evaluative reunions at almost every system level; the information about the control of contacts and treatment adhesion, however, are still discordant. The resources are being transfered like determined by the Brazilian legislation, but the absence of an exclusive sum designated for leprosy control make it difficult to manage it. It was evidenced that training for the health workers has been realized; however, it still seems insufficient. We conclude that the National Program of Leprosy?s Elimination may be evaluated.

La Enfermedad de Hansen es una enfermedad infecciosa, de evolucíon crónica, causada por el Mycobacterium leprae. Es una afección estigmatizante y tiene una historia de discriminación y aislamiento de los enfermos. Este estudio tiene como objetivo determinar la evalución del Programa Nacional para la Eliminación de la Enfermidad de Hansen para futura evaluación sistemática del Programa. La recolección de datos se realizó mediante entrevistas con informantes clave en los niveles estadual y municipal del gobierno, y observación sistemática in loco, para compararlos con las recomendaciones del plan seleccionado. Hubo gran variabilidad en la definición del Programa y sus objetivos por los gestores. Se realizan reuniones evaluativas en casi todos los niveles del sistema, la información relativa al seguimiento de los contactos y la adherencia al tratamiento, sin embargo, siguen siendo discordantes. Los fondos se transfieren de acuerdo a lo dispuesto por la legislación brasileña, pero la falta de fondos destinados exclusivamente para el control de la Enfermedad de Hansen dificulta su gestión. Se evidenció que la formación de los trabajadores de la salud se ha realizado, sin embargo, parece todavía insuficiente. Se concluyó que el Programa Nacional para la Eliminación de la Enfermedad de Hansen es evaluable.