An Interesting Endocrine Cause of Pyrexia of Unknown Origin: A Case Report and Review of Literature

Pyrexia of unknown origin (PUO) is one of the most challenging medical problems. Endocrine causes of PUO are rare. Fever is common in a few endocrine disorders (e.g., thyroid storm, adrenal crisis and pheochromocytoma). However, PUO as the sole presenting feature is very rare with only a few reported cases in the literature. We present the case of a middle-aged male who came to us with PUO, weight loss and loss of appetite. The unusual symptomatology like loss of appetite, altered bowel habits made diagnosis difficult. This case highlights the importance of considering thyroid disorder in the differential diagnosis of PUO. Abnormal thyroid function may be an early clue for diagnosis.

Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital

Abstract Objectives To analyze the efficiency of a multigenic targeted massively parallel sequencing panel related to endocrine disorders for molecular diagnosis of patients assisted in a tertiary hospital involved in the training of medical faculty. Material and methods Retrospective analysis of the clinical diagnosis and genotype obtained from 272 patients in the Endocrine unit of a tertiary hospital was performed using a custom panel designed with 653 genes, most of them already associated with the phenotype (OMIM) and some candidate genes that englobes developmental, metabolic and adrenal diseases. The enriched DNA libraries were sequenced in NextSeq 500. Variants found were then classified according to ACMG/AMP criteria, with Varsome and InterVar. Results Three runs were performed; the mean coverage depth of the targeted regions in panel sequencing data was 249×, with at least 96.3% of the sequenced bases being covered more than 20-fold. The authors identified 66 LP/P variants (24%) and 27 VUS (10%). Considering the solved cases, 49 have developmental diseases, 12 have metabolic and 5 have adrenal diseases. Conclusion The application of a multigenic panel aids the training of medical faculty in an academic hospital by showing the picture of the molecular pathways behind each disorder. This may be particularly helpful in developmental disease cases. A precise genetic etiology provides an improvement in understanding the disease, guides decisions about prevention or treatment, and allows genetic counseling.

Endocrine Disorders Induced by PD-1/PD-L1 Inhibitor and Related Treatment / 肿瘤防治研究

Immune checkpoint therapy is a new mode of tumor therapy. At present, many kinds of PD-1/PD-L1 inhibitors have been approved for clinical application on various tumors, such as malignant melanoma, lung cancer, bladder cancer, lymphoma, etc. However, with the gradual promotion and application in clinical practice, various immune-related adverse reactions caused by PD-1/PD-L1 inhibitors have attracted extensive attention. Especially in recent years, a number of adverse reactions related to endocrine gland injury have been reported. This paper reviews the research status and corresponding clinical treatment methods of endocrine gland related adverse reactions caused by PD-1/PD-L1 inhibitors.

Sexualidad en el contexto de los procesos de vida de mujeres y varones con endocrinopatías: una aproximación cualitativa / Sexuality in the life processes context of women and men with endocrinopathies: A qualitative approach

Resumen Antecedentes las enfermedades del sistema endocrino pueden afectar la sexualidad por sus efectos hormonales, las comorbilidades asociadas y su impacto psicosocial, tema poco estudiado desde las perspectivas de personas con estas enfermedades. Objetivos: se realizó un estudio cualitativo dirigido a comprender las experiencias sexuales de mujeres y varones con enfermedades endocrinas que producen cambios en la apariencia física. Método: se estructuró un diseño de estudio analítico-interpretativo. Participaron 68 personas entre 20 y 45 años de edad, atendidos en el Instituto Nacional de Endocrinología, La Habana, Cuba. Los instrumentos de recolección de la información utilizados fueron una planilla de datos generales, una guía de entrevista en profundidad y dos pruebas psicológicas proyectivas. Los aspectos éticos fueron considerados. Resultados: de las entrevistas en profundidad, emergieron 4 temas: 1) la expresión multidimensional de la enfermedad, 2) enfermedad y áreas de vida, 3) ejercicio de la sexualidad con la enfermedad, y 4) estrategias de afrontamiento en el área sexual; vinculados con los significados expresados sobre la salud, el cuerpo, el género y la sexualidad. Conclusiones: las/los participantes contextualizaron sus experiencias sexuales en el impacto biopsicosocial de la enfermedad. La reproducción o cuestionamiento de los significados expresados influyó en la calidad de sus experiencias sexuales. El estudio mostró que esta constituye un área de vulnerabilidad para la salud integral de las/los participantes.

Abstract Background endocrine disorders may affect sexuality due to hormonal changes, associated comorbidities and psychosocial impact. This topic remains poorly researched from the perspective of people with these conditions. Objectives: a qualitative research was conducted to understand the sexual experiences of women and men living with endocrine disorders that change their physical appearance. Methods: an analytical-interpretive study was carried out with a sample of 68 participants aged between 20 and 45, and treated at the National Institute of Endocrinology, Havana, Cuba. Data collection instruments were a personal information sheet, an in-depth interview guide and two projective psychological tests. Ethical aspects were considered. Results: in-depth interviews gave rise to four topics: 1) multidimensional expression of the disease, 2) the disease and life areas, 3) sexuality with the disease, and 4) coping strategies in the sexual area. These topics were linked to the meanings of health, body, gender and sexuality. Conclusions: the participants contextualized their sexual experiences within the biopsychosocial impact of the endocrine disorder, as well as the reproduction or questioning of the meanings that influenced the quality of their sexual experiences. The study showed that sexuality is a vulnerable area for the participants' comprehensive health.

Comparison Of Morphological Characteristics Of Pituitary Gland Between The Different Age Groups

Background: The pituitary gland (PTG) size, shape will change according to the age in response to the changes inthe hormonal environment. Hence care should be taken while evaluating the PTG disorders. This present studyconducted to evaluate the morphological changes in PTG with relation to age.Materials and Methods: This study was conducted in the Department of Anatomy was approved by InstitutionalHuman Ethics Committee. A total of 73 PTG specimens were included in this study. They are divided in to sixgroups based on the age. G-I (Foetus), G-II (1-10 Y), G-III (11-30 Y), G-IV (31-50 Y), G-V (51-70 Y) and G-VI(Above 71Y). All the specimens were subjected for H&E stain. The slides were observed for morphological changes. The datawas expressed in MEAN±SD and Statistical Package for Social Sciences (SPSS 16.0) version used for analysis.Results: More number of males was in group-V and females in group-IV. Pars intermedia had maximum thicknessin foetal life. Basophilic zone was not seen in foetal life but it is more prominent in other age groups. Cellularityincreased as age progress. Pars anterior and nervosa showed more vascularity compared to interior. As ageprogress this vascularity is decreased.Conclusion: From the study observations it can be concluded that as age progress there is a significant changesin the PTG morphology. Knowledge about these changes can useful for the diagnosis and treatment of variousdisorders of PTG.

Prevalence of growth and endocrine disorders in Malaysian children with transfusion-dependent thalassaemia

INTRODUCTION@#Endocrine dysfunction due to iron overload secondary to frequent blood transfusions is a common complication in children with transfusion-dependent thalassaemia (TDT). We ascertained the prevalence of endocrine dysfunction in children with TDT seen in a hospital setting in Malaysia.@*METHODS@#We reviewed all patients with TDT who had ≥ 8 blood transfusions per year. Patients who had a history of stem cell transplantation, concurrent autoimmune diseases or were newly diagnosed to have TDT were excluded. Standard diagnostic criteria were used in the diagnosis of various endocrine dysfunctions.@*RESULTS@#Of the 82 patients with TDT, 65% had at least one endocrine dysfunction. Short stature was the commonest (40.2%), followed by pubertal disorders (14.6%), hypoparathyroidism (12.3%), vitamin D deficiency (10.1%), hypocortisolism (7.3%), diabetes mellitus (5.2%) and overt hypothyroidism (4.9%). Subclinical hypothyroidism and pre-diabetes mellitus were seen in 13.4% and 8.6% of the patients, respectively. For children aged 10 years of age. Close monitoring for endocrine dysfunction and hormonal therapy is essential to prevent long-term adverse outcomes.

Hair manifestations of endocrine diseases: A brief review

Hair disorders are common in clinical practice and depending upon social and ethnic norms, it can cause significant psychosocial distress. Hair growth, cycling and density are regulated by many endogenous factors, mainly circulating hormones. Thus, diseases affecting the endocrine system can cause varied changes in physiological hair growth and cycling. Diagnosis and treatment of these disorders require a multidisciplinary approach involving a dermatologist, gynecologist and an endocrinologist. In this review, we briefly discuss the influence of hormones on the hair cycle and hair changes in various endocrine disorders.

Histopathological hoof laminar changes in horses with pituitary pars Intermedia adenoma: cases report / Alterações histopatológicas do tecido laminar do casco em cavalos com adenoma da pars intermedia da hipófise: relato de casos

Laminitis in horses is often associated with endocrine disorders, especially the pituitary pars intermedia dysfunction (PPID) in older animals. Morphologic exams of the laminar tissue of the hoof were performed in two horses with suspected PPID, with no clinical signs of laminitis. Changes compatible with laminitis of endocrine origin were observed, such as rounding of the nuclei of the basal cells, thinning and stretching of the secondary epidermal laminae and tissue proliferation. PPID horses with no clinical signs of laminitis may be affected by lesions of the laminar tissue of the hoof that compromise the integrity of the dermal-epidermal junction and may develop clinical symptoms of the disease. It has been suggested that the development stage of endocrine laminitis is longer, but further studies should be conducted to confirm it.

A laminite em cavalos está frequentemente associada a distúrbios endócrinos, como a disfunção da pars intermedia da pituitária (PPID) em animais mais velhos. Exames morfológicos do tecido laminar do casco foram realizados em dois cavalos com suspeita de PPID após o óbito, os quais não apresentaram sinais clínicos de laminite. Alterações compatíveis com a laminite de origem endócrina foram observadas, como arredondamento da núcleo das células basais, alongamento e afilamento das lâminas epidérmicas secundárias e proliferação tecidual. Cavalos com PPID sem sinais clínicos de laminite podem estar acometidos por lesões do tecido laminar do casco que comprometam a integridade das interdigitações dérmico-epidérmicas e podem desenvolver a sintomatologia clínica da doença. Sugere-se que o período de desenvolvimento da laminite endócrina seja mais longo, porém estudos adicionais devem ser realizados para confirmar essa hipótese.

Variation of plasma cortisol levels in patients with depression after treatment with bilateral electroconvulsive therapy / Variação de cortisol plasmático em pacientes deprimidos após tratamento com eletroconvulsoterapia bilateral

Introduction: More than 60 years after the introduction of modern psychopharmacology, electroconvulsive therapy (ECT) continues to be an essential therapeutic modality in the treatment of mental disorders, but its mechanism of action remains unclear. Hormones play an essential role in the development and expression of a series of behavioral changes. One aspect of the influence of hormones on behavior is their potential contribution to the pathophysiology of psychiatric disorders and the mechanism of action of psychotropic drugs and ECT. Objective: We measured blood levels of the hormone cortisol in patients with unipolar depression according to the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV) and compared results with levels found in healthy adults. Method: Blood cortisol levels were measured before the beginning of treatment with ECT, at the seventh session, and at the last session, at treatment completion. Depression symptoms were assessed using the Beck Depression Inventory (BDI). Results: Cortisol levels remained stable in both men and women between the seventh and the last sessions of ECT; values ranged from 0.686±9.6330 g/dL for women, and there was a mean decrease of 5.825±6.0780 g/dL (p = 0.024). Mean number of ECT sessions was 12. After the seventh and the last ECT sessions, patients with depression and individuals in the control group had similar cortisol levels, whereas BDI scores remained different. Conclusion: Cortisol levels decreased during ECT treatment. ECT seems to act as a regulator of the hypothalamic-pituitaryadrenal axis. .

Introdução: Mais de 60 anos após a introdução da moderna psicofarmacologia, a eletroconvulsoterapia (ECT) continua essencial para o tratamento de distúrbios mentais, mas seu mecanismo de ação ainda não é totalmente conhecido. Certos hormônios têm um papel fundamental no desenvolvimento e expressão de uma série de alterações comportamentais. Um aspecto da influência dos hormônios nos comportamentos é sua contribuição potencial para a patofisiologia dos distúrbios psiquiátricos e o mecanismo de ação de psicotrópicos e da ECT. Objetivo: Os níveis do hormônio cortisol no sangue foram medidos em pacientes com depressão unipolar classificados de acordo com a 4ª edição do Manual Estatístico e Diagnóstico de Transtornos Mentais (DSM-IV), e os resultados foram comparados com os níveis encontrados em adultos saudáveis. Métodos: Os níveis de cortisol no sangue foram medidos antes do início do tratamento com ECT, na sétima e na última sessão, após a conclusão do tratamento. Os sintomas de depressão foram avaliados usando o Inventário de Depressão de Beck (BDI). Resultados: Os níveis de cortisol permaneceram estáveis tanto nos pacientes masculinos quanto femininos entre a sétima e a última sessão de ECT; os valores variaram 0,686±9,6330 g/ dL entre as pacientes femininas, e houve uma diminuição de 5,825±6,0780 g/dL (p = 0,024). O número médio de sessões de ECT foi 12. Após a sétima e a última sessão de ECT, os níveis de cortisol nos pacientes com depressão e nos indivíduos no grupo controle foram semelhantes, enquanto os resultados da escala BDI permaneceram diferentes. Conclusão: Os níveis de cortisol diminuíram durante o tratamento com ECT. A ECT parece atuar como reguladora do eixo hipotalâmico-hipofisário-adrenal. .

Endocrine and metabolic disorders in HTLV-1 infected patients

Human T-cell leukemia virus type 1 (HTLV-1) infection is endemic in Japan and several countries in South America, Caribbean and Africa. Endocrine and metabolic disorders have been variably reported to be associated with human T-cell leukemia virus type 1 (HTLV-1) infection. Therefore, the aim of this article was to critically evaluate the current knowledge of the endocrine and metabolic disorders associated with HTLV-1 infection. The literature search used PubMed, Web of Science, and LILACS databases in the past 10 years, utilizing, in various combinations, the following keywords: HTLV-1, adult T-cell leukemia, diabetes mellitus, GLUT-1, osteoporosis, hypercalcemia, autoimmune thyroid disorders, diabetes insipidus, inappropriate antidiuretic hormone secretion; pseudohypoparathyroidism; pseudopseudohypoparathyroidism. The proven endocrine manifestations of the HTLV-1 infection are calcium disorders which occur in some patients with acute HTLV-1/Adult T-cell leukemia/lymphoma. The few reports about thyroid, parathyroid, antidiuretic hormone and diabetes mellitus are insufficient to prove a causal association with HTLV-1 infection. The evidence for an association between endocrine disorders and HTLV-1 infection in general, and in asymptomatic patients is lacking. Given all these uncertainties, the endocrine expression of the HTLV-1 infection composes a promising research line for understanding the pathophysiology of this infection.

Seguimiento de los efectos tardios endocrinológicos en sobrevivientes de cáncer infantil

Los niños y adolescentes sobrevivientes de cáncer pueden presentar a largo plazo alteraciones endocrinas como consecuencia del tratamiento antineoplásico recibido. Con el objeto de identificar en forma temprana estos efectos tardíos, se presenta una guía práctica que permite realizar un seguimiento desde el punto de visto endocrino, evaluando los factores de riesgo y las complicaciones tardías potenciales que puedan desarrollarse de acuerdo al agente terapéutico utilizado y su dosis. Las alteraciones en el crecimiento, especialmente las causadas por la radioterapia y/ o cirugía craneal, los desórdenes de la pubertad e infertilidad como consecuencia de la quimioterapia, y la osteopenia, son algunas de las endocrinopatías más relevantes. La implementación de un tratamiento hormonal temprano ofrece la oportunidad de optimizar el crecimiento, brindar bienestar y mejorar la calidad de vida al paciente con cáncer en remisión.

Childhood cancer survivors can manifest late endocrine effects after completion of cancer therapy. In order to make an early identification of long-term endocrine sequelae, we present a practical guideline for the follow-up and assessment of the risk factors and potential late complications that will develop in relation to the therapeutic agent used and its dose. Growth impairment due to brain irradiation and/or surgery, pubertal disorders and infertility caused by chemotherapy, and osteopenia, are some of the most prevalent endocrinopathies. Early hormonal treatment can lead to enhance growth rate, available stamina and improve quality of life of the patient with cancer in remission.

Introduction of Pediatric Endocrine Diseases

Pediatric endocrine diseases had been known to occur rarely until several years ago, however, these days many physicians begin to notice that pediatric endocrine diseases are not rare. Especially since Korean economy has been better, many Korean people have realized that short stature itself is a disease entity. At the same time, children and adolescents are deeply interested in their stature, because they tend to relate higher stature to better quality of life. Therefore, they visit growth clinics and many of them have been found to have pediatric endocrine disorders, presenting as short stature. There are many pediatric endocrine disorders, which present as short stature, such as hypopituitarism (growth hormone deficiency), Turner syndrome, disorders with precocious puberty (true precocious puberty, pseudoprecocious puberty and congenital adrenal hyperplasia), and congenital or acquired hypothyroidism. These disorders should be treated adequately to alleviate the clinical manifestations and promote the final adult height. However, most of the children and adolescents who visit growth clinics with short stature have normal short stature variant. They do not need growth hormone to promote their final stature. Additionally, most chronic disorders, such as chronic renal failure, chronic bowel disease, and chronic lung disease, also may present growth failure, which should be adeqautely managed to promote patients' quality of life.