Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report

<p>Abstract</p> <p>Introduction</p> <p>Androgen is a generic term usually applied to describe a group of sex steroid hormones. Androgens are responsible for male sex differentiation during embryogenesis at the sixth or seventh week of gestation, triggering the development of the testes and penis in male fetuses, and are directed by the testicular determining factor: the gene <it>SRY </it>(sex determining region on Y chromosome) located on the short arm of chromosome Y. The differentiation of male external genitalia (penis, scrotum and penile urethra) occurs between the 9th and 13th weeks of pregnancy and requires adequate concentration of testosterone and the conversion of this to another more potent androgen, dihydrotestosterone, through the action of 5α-reductase in target tissues.</p> <p>Case presentation</p> <p>This report describes the case of a teenage girl presenting with a male karyotype, and aims to determine the extension of the mutation that affected the AR gene. A Caucasian girl aged 15 was referred to our laboratory for genetic testing due to primary amenorrhea. Physical examination, karyotype testing and molecular analysis of the androgen receptor were critical in making the correct diagnosis of complete androgen insensitivity syndrome.</p> <p>Conclusions</p> <p>Sex determination and differentiation depend on a cascade of events that begins with the establishment of chromosomal sex at fertilization and ends with sexual maturation at puberty, subsequently leading to fertility. Mutations affecting the <it>AR </it>gene may cause either complete or partial androgen insensitivity syndrome. The case reported here is consistent with complete androgen insensitivity syndrome, misdiagnosed at birth, and consequently our patient was raised both socially and educationally as a female. It is critical that health care providers understand the importance of properly diagnosing a newborn manifesting ambiguous genitalia. Furthermore, a child with a pseudohermaphrodite phenotype should always undergo adequate endocrine and genetic testing to reach a conclusive diagnosis before gender is assigned and surgical interventions are carried out. Our results show that extreme care must be taken in selecting the genetic tools that are utilized for the diagnosis for androgen insensitivity syndrome.</p

Welcoming with risk classification in teaching hospitals: assessment of structure, process and result

OBJETIVO: avaliar, na ótica dos trabalhadores, a estrutura, o processo e o resultado de Serviços Hospitalares de Emergência que adotam a diretriz Acolhimento com Classificação de Risco, em dois hospitais de ensino do Estado do Paraná. MÉTODO: pesquisa quantitativa, descritiva, exploratória e prospectiva de amostragem aleatória e estratificada por categoria profissional, constituída por 216 profissionais. RESULTADOS: apontaram pontos concordantes em relação à promoção de ambiente acolhedor e humano, privacidade e segurança, acolhimento do acompanhante e acolhimento e classificação de todos pacientes, porém, houve discordância sobre o conforto do ambiente, sistema de referência e contrarreferência, priorização de pacientes graves no atendimento pós-classificação, comunicação entre os membros da equipe multiprofissional e reavaliação da diretriz. CONCLUSÃO: os trabalhadores avaliam o desenvolvimento da diretriz como precário, em razão, principalmente, da falta de estrutura física e deficiências no processo de atendimento.OBJETIVO: evaluar la estructura, procesos y resultados de Servicios de Emergencias Hospitalarios de que adoptaron la directriz "Acogida con Clasificación del Riesgo" desde la perspectiva de los trabajadores de dos hospitales de enseñanza en el estado de Paraná. MÉTODO: estudio cuantitativo, descriptivo, exploratorio y prospectivo con muestreo aleatorio estratificado por categoría profesional constituido por 216 profesionales de la salud. RESULTADOS: los participantes manifestaron puntos de acuerdo en relación a los siguientes ítems: promoción de ambiente acogedor y humano; privacidad y seguridad; acogida de acompañantes; acogida y clasificación de todos los pacientes. Los entrevistados manifestaron desacuerdo en relación a los siguientes aspectos: ambiente confortable; sistema de referencia y contrarreferencia; priorización de la atención de pacientes en estado grave consiguiente a la clasificación; comunicación entre los profesionales del equipo multidisciplinario; reevaluación de la directriz Acogida con Clasificación del Riesgo. CONCLUSIÓN: los trabajadores entrevistados evaluaron como precaria la implantación de la directriz Acogida con Clasificación del Riesgo, especialmente debido a falta de estructura física adecuada y deficiencias en el proceso de atención.OBJECTIVE: to assess, from the worker's viewpoint, the structure, the process and the results of the Emergency Hospital Services that have taken up the guideline of "Welcoming with Risk Classification" in two teaching hospitals of the state of Paraná. METHOD: quantitative and descriptive research, exploratory and prospective, using random sampling stratified by professional category, comprising a universe of 216 professional people. RESULTS: they found some points of agreement regarding the promotion of a welcoming and humane environment; privacy and security; welcome and shelter of the companion and also the sheltering and classification of all patients; however, there was disagreement about the comfort of the environment, reference system and counter-reference, prioritisation of seriously ill patients in post-classification service, communication between the members of the multi-professional team and reassessment of the guideline. CONCLUSION: the workers assess the development of the guideline as being precarious, due mainly to the lack of physical structure, due to the lack of physical structure and shortcomings in the service process

Investigating the Host-Range of the Rust Fungus Puccinia psidii sensu lato across Tribes of the Family Myrtaceae Present in Australia

The exotic rust fungus Puccinia psidii sensu lato was first detected in Australia in April 2010. This study aimed to determine the host-range potential of this accession of the rust by testing its pathogenicity on plants of 122 taxa, representative of the 15 tribes of the subfamily Myrtoideae in the family Myrtaceae. Each taxon was tested in two separate trials (unless indicated otherwise) that comprised up to five replicates per taxon and six replicates of a positive control (Syzygium jambos). No visible symptoms were observed on the following four taxa in either trial: Eucalyptus grandis×camaldulensis, E. moluccana, Lophostemon confertus and Sannantha angusta. Only small chlorotic or necrotic flecks without any uredinia (rust fruiting bodies) were observed on inoculated leaves of seven other taxa (Acca sellowiana, Corymbia calophylla ‘Rosea’, Lophostemon suaveolens, Psidium cattleyanum, P. guajava ‘Hawaiian’ and ‘Indian’, Syzygium unipunctatum). Fully-developed uredinia were observed on all replicates across both trials of 28 taxa from 8 tribes belonging to the following 17 genera: Agonis, Austromyrtus, Beaufortia, Callistemon, Calothamnus, Chamelaucium, Darwinia, Eucalyptus, Gossia, Kunzea, Leptospermum, Melaleuca, Metrosideros, Syzygium, Thryptomene, Tristania, Verticordia. In contrast, the remaining 83 taxa inoculated, including the majority of Corymbia and Eucalyptus species, developed a broad range of symptoms, often across the full spectrum, from fully-developed uredinia to no visible symptoms. These results were encouraging as they indicate that some levels of genetic resistance to the rust possibly exist in these taxa. Overall, our results indicated no apparent association between the presence or absence of disease symptoms and the phylogenetic relatedness of taxa. It is most likely that the majority of the thousands of Myrtaceae species found in Australia have the potential to become infected to some degree by the rust, although this wide host range may not be fully realized in the field