RESUMO
Sex assignment at birth remains one of the most clinically challenging and controversial topics in 46,XY disorders of sexual development (DSD). This is particularly challenging in deficiency of 5-alpha reductase type 2 given that external genitalia are typically undervirilized at birth but typically virilize at puberty to a variable degree. Historically, most individuals with 5-alpha reductase deficiency were raised females. However, reports that over half of patients who underwent a virilizing puberty adopted an adult male gender identity have challenged this practice. Consensus guidelines on assignment of sex of rearing at birth are equivocal or favor male assignment in the most virilized cases. While a male sex of rearing assignment may avoid lifelong hormonal therapy and/or allow the potential for fertility, female sex assignment may be more consistent with external anatomy in the most severely undervirilized cases. Herein, we describe five patients with 46,XY DSD due 5-alpha-reductase type 2 deficiency, all with a severe phenotype. An inter-disciplinary DSD medical team at one of two academic centers evaluated each patient. This case series illustrates the complicated decision-making process of assignment of sex of rearing at birth in 5-alpha reductase type 2 deficiency and the challenges that arise when the interests of the child, parental wishes, recommendations of the medical team, and state law collide.
Assuntos
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência , Transtorno 46,XY do Desenvolvimento Sexual/genética , Hipospadia/genética , Proteínas de Membrana/genética , Processos de Determinação Sexual , Erros Inatos do Metabolismo de Esteroides/genética , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Adulto , Criança , Pré-Escolar , Di-Hidrotestosterona/metabolismo , Transtorno 46,XY do Desenvolvimento Sexual/fisiopatologia , Desenvolvimento Embrionário/genética , Feminino , Humanos , Hipospadia/fisiopatologia , Lactente , Cariótipo , Masculino , Maturidade Sexual/genética , Erros Inatos do Metabolismo de Esteroides/fisiopatologiaRESUMO
BACKGROUND: In adolescents and adults, bipolar disorder (BD) is associated with significant morbidity, mortality, and impairment in psychosocial and occupational functioning. IPSRT is an empirically supported adjunctive psychotherapy for adults with bipolar disorder, which has been shown to help delay relapse, speed recovery from a bipolar depressive episode, and increase occupational and psychosocial functioning in adults with BD. This study is designed to describe the adolescent-specific developmental adaptations made to IPSRT (i.e., IPSRT-A) and to report the results from an open trial of IPSRT-A with 12 adolescents with a bipolar spectrum disorder. METHOD: Interpersonal and Social Rhythm Therapy was adapted to be developmentally relevant to adolescents with bipolar disorder. Twelve adolescents (mean age 16.5+/-1.3 years) diagnosed with a bipolar spectrum disorder participated in 16-18 sessions of adjunctive IPSRT-A over 20 weeks. Manic, depressive, and general symptoms and global functioning were measured at baseline, monthly during treatment, and at post-treatment. Adolescent satisfaction with treatment was also measured. RESULTS: Feasibility and acceptability of IPSRT-A were high; 11/12 participants completed treatment, 97% of sessions were attended, and adolescent-rated satisfaction scores were high. IPSRT-A participants experienced significant decreases in manic, depressive, and general psychiatric symptoms over the 20 weeks of treatment. Participants' global functioning increased significantly as well. Effect sizes ranged from medium-large to large. CONCLUSIONS: IPSRT-A appears to be a promising adjunctive treatment for adolescents with bipolar disorder. A current randomized controlled trial is underway to examine effects of adjunctive IPSRT-A on psychiatric symptoms and psychosocial functioning.
Assuntos
Transtorno Bipolar/terapia , Relações Interpessoais , Psicoterapia/métodos , Adaptação Psicológica , Adolescente , Transtorno Bipolar/diagnóstico , Transtorno Bipolar/epidemiologia , Transtorno Depressivo/diagnóstico , Transtorno Depressivo/epidemiologia , Feminino , Humanos , Masculino , Avaliação de Resultados em Cuidados de Saúde , Satisfação do Paciente , PsicologiaRESUMO
There is, in the content of the Journal, an embarrassment of riches, and picking a "best" seems to demand a certain qualification: is the "best" the most interesting, most surprising, most educational, most important, most provocative, most enjoyable? How to choose? We are hardly unbiased and can admit to a special affection for the ones that we and the authors worked hardest on, hammering version after version into shape. Acknowledging these biases, here are the 2018 articles that we think deserve your attention or at least a second read.
Assuntos
Psiquiatria do Adolescente , Pesquisa Biomédica , Psiquiatria Infantil , Publicações Periódicas como Assunto , HumanosRESUMO
Earlier this year, we shared with you our commitment to supporting the dissemination of research that is well designed, carefully conducted, and properly interpreted, and our belief that authors, reviewers, editors, publishers, and readers should jointly strive to ensure the integrity of the science that we publish.1 Toward this end, we are pleased to announce a new submission type beginning in 2019: Registered Reports.
Assuntos
Pesquisa Biomédica/normas , Editoração , Projetos de Pesquisa/normas , HumanosRESUMO
OBJECTIVES: Polymorphisms of the serotonin transporter (SERT) gene have been shown to influence the risk for depression. The goal of this study was to investigate a possible effect of SERT polymorphisms on severity and course of depression symptoms in a community sample of adolescents. METHODS: Community-dwelling adolescents (n=192) ages 13-17 years, who were at risk for depression, were followed for a period of 6 months. Subjects donated a saliva sample for genotyping of the 5-HTTLPR and STin2 VNTR polymorphisms of SERT. RESULTS: We found no associations between SERT genotype and severity of depressive symptoms at baseline. Depression symptom severity markedly decreased over time. For 5-HTTLPR, we observed a significant interaction between time and genotype, indicating the possibility that heterozygote genotype carriers (s/l) might experience a greater reduction in depression symptoms over time compared with adolescents with the 5-HTTLPR l/l genotype. CONCLUSIONS: Our study shows that for most community-dwelling adolescents, depressive symptoms decrease over time. A possible interaction effect of time and SERT genotype will require confirmation in larger studies.