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The classic clinical manifestations of Klinefelter syndrome (KS) are expressions of the primary hypogonadism that causes severe alterations of the reproductive and endocrine functions of the testis. It is a syndrome that causes infertility, and in addition leads to multiple disorders that involve a variety of tissues and organs. Important medical conditions associated with KS are categorized as: 1) motor, cognitive, and behavioral dysfunction; 2) tumors; 3) vascular disease and 4) endocrine/ metabolic and autoimmune diseases. The overall incidence of cancer in men with this syndrome is similar to that of the general population, but some malignancies show a significantly higher prevalence in these patients. It is possible that the increased risk of developing certain cancers can be attributed to a direct effect of the chromosomal abnormality (the supernumerary X chromosome), or the combined action of the abnormal chromosomes and hormonal imbalances. Although data in the literature on cancer and KS are abundant, most of them are individual case reports. Only three epidemiological studies with relatively large cohorts provide data with greater reliability, although each has inherent imitations related to study design. This review paper summarizes the current knowledge about cancer risk from childhood to adulthood in patients with KS.
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Neoplasias de la Mama Masculina/epidemiología , Neoplasias Hematológicas/epidemiología , Síndrome de Klinefelter/epidemiología , Neoplasias de Células Germinales y Embrionarias/epidemiología , Adulto , Distribución por Edad , Niño , Humanos , Masculino , Prevalencia , Factores de RiesgoRESUMEN
In recent years, the issue of osteopenia/osteoporosis in children, adolescents and young adults with thalassaemia major (TM) has attracted much attention because it is a prominent cause of morbidity despite adequate transfusion and iron chelation therapy. The reported frequency of osteoporosis, even in well treated TM patients varies from 13.6% to 50% with an additional 45% affected by osteopenia. The pathogenesis of TM-induced osteoporosis is multifactorial. Genetic and acquired factors play role in demineralization of bones in thalassemia. Osteoporosis is characterized by low bone mass and disruption of bone architecture, resulting in reduced bone strength and increased risk of fractures. The significant predictors of fracture prevalence include male gender, hypothyroidism, age, lack of spontaneous puberty in females, active hepatitis, heart disease and diabetes. The early identification of osteopenia and osteoporosis is of paramount importance. This is because delayed diagnosis and inadequate treatment have led to severe osteoporosis, skeletal abnormalities, fractures, spinal deformities, nerve compression and growth failure. dequate hormonal replacement, has been posponed, Effective iron chelation adequate hormonal replacement, improvement of hemoglobin levels, calcium and vitamin D administration and physical activity are currently the main measures for the management of the disease. The use of bisphosphonates in TM patients with osteoporosis is increasing and their positive effect in improving bone mineral density is encouraging. The recommendations of the International Network on Growth Disorders and Endocrine Complications in Thalassaemia (I-CET) for diagnosis and management of osteoporosis in TM are also briefly included in this review.
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Monitoreo Fisiológico/métodos , Osteoporosis/etiología , Osteoporosis/terapia , Talasemia beta/complicaciones , Talasemia beta/terapia , Adolescente , Adulto , Densidad Ósea , Niño , Femenino , Fracturas Óseas/epidemiología , Fracturas Óseas/etiología , Fracturas Óseas/prevención & control , Humanos , Masculino , Osteoporosis/epidemiología , Factores de Riesgo , Adulto Joven , Talasemia beta/epidemiologíaRESUMEN
A retrospective study (by definition non-interventional) is a purely observational review and/or reassessment of database records with the aim of analyzing previous events of interest. The ethical and scientific standards for conducting biomedical research with humans have been established in international guidelines. Nevertheless, the reporting of ethical considerations in human research is not yet agreed upon globally, although some progress has been made in recent years. If a study has been granted exemption from ethics approval, this should be indicated in the manuscript (including the reasons for the exemption) and, if formal review by an ethics committee is not available, a statement should be included indicating that the research was conducted according to the principles of the Declaration of Helsinki. Editors play an important role in adherence to these ethical requirements for all submitted and published research papers in their journals. This short review paper focuses on the main lights and shadows of ethical aspects for conducting retrospective observational studies in humans and implications for medical writers.
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Investigación Biomédica , Escritura Médica , Humanos , Estudios Retrospectivos , Consentimiento InformadoRESUMEN
BACKGROUND: The natural history of the glycometabolic state in transfusion-dependent ß-thalassemia (TDT) patients is characterized by a deterioration of glucose tolerance over time. AIMS: This review depicts our current knowledges on the complex and multifacet pathophysiologic mechanisms implicated in the development of alteration of glucose homeostasis in patients with TDT. SEARCH STRATEGY: A systematic search was done on December 2020 including Web of Science (ISI), Scopus, PubMed, Embase, and Scholar for papers published in the last 20 years. Moreover, we checked the reference lists of the relevant articles and previously performed reviews for additional pertinent studies. The personal experience on the care of patients with thalassemias is also reported. CONCLUSION: A regular packed red blood cells (PRBCs) transfusion program, optimization of chelation therapy, and prevention and treatment of liver infections are critical to achieve adequate glucometabolic control in TDT patients. Many exciting opportunities remain for further research and therapeutic development.
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Talasemia , Talasemia beta , Transfusión Sanguínea , Glucosa , Homeostasis , Humanos , Talasemia beta/terapiaRESUMEN
BACKGROUND: Glucose dysregulation (GD), including prediabetes and diabetes mellitus (DM), is a common complication of transfusion-dependent ß-thalassemia (TDT) patients. The prevalence increases with age and magnitude of iron overload, affecting a significant proportion of patients. According to the international guidelines, the development of GD is frequently asymptomatic. Therefore, an early diagnosis requires an annual oral glucose tolerance test (OGTT) in all TDT patients aged ten years or older. PURPOSE: This retrospective study aims to evaluate the prevalence of GD in a homogenous population of prepubertal TDT patients and to enhance understanding of the pathogenesis and progression of glucose homeostasis in this group of patients. METHODS: A selected group of 28 TDT patients was followed for at least 10.3 years (range: 10.3 - 28.10 years) from prepubertal age (mean 11.0 ± standard deviation 1.1 years) to adulthood (28.7 ± 3.7 years). Glucose tolerance and insulin response to OGTT were assessed, and indices of ß-cell function, insulin sensitivity, and insulin secretion were calculated. RESULTS: At baseline, 18 TDT patients had normal glucose tolerance (NGT) and 10 had isolated impaired fasting glycemia (IFG), according to the American Diabetes Association (ADA) criteria. Compared to 18 healthy prepubertal controls (mean ± SD age: 10.9 ± 1.1 years), the fasting plasma glucose (FPG), basal insulin level, and Homeostatic Model Assessment for Insulin Resistance (HOMA-IR) index were significantly higher in the group of TDT patients (p= 0.001, 0.01 and 0.012, respectively). At the last observation, 7/18 patients (38.8%) with NGT and 9/10 (90%) with IFG at baseline deteriorated; 3 female patients developed type 2 DM (1 from the NGT group and 2 from the IFG group). Compared to adult controls, TDT patients with NGT had a reduced oral disposition index (DI) (p= 0.006) but no significant difference in HOMA-IR and Matsuda index. Conversely, all insulin indices (HOMA-IR, MI, and DI) but one [insulinogenic index (IGI)] were statistically different in TDT patients with GD compared to controls. CONCLUSION: This study underlines the concept that the spectrum of glucose tolerance in TDT patients represents a continuum of glucose homeostasis disturbances and that prepubertal patients with IFG are at higher risk of developing a further deterioration of glucose metabolism with time. Moreover, it appears that one-third of adult TDT patients with normal fasting glucose may develop GD in the second-third decade of life. Thus, early intervention could help to prevent an expected further decline of glucose tolerance.
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Long term administration of calcitriol (1,25 - dihydroxyvitamin D) is recommended for the treatment of a number of endocrine and renal disorders associated with impaired calcium - phosphate metabolism. Administration of calcitriol, however, may give rise to undesirable side effects, such as hypercalcemia and hypercalciuria. The magnitude of hypercalcemia is the key consideration in determining the need for immediate and aggressive therapy. There are four main strategies for lowering serum calcium: decreasing intestinal calcium absorption; increasing urinary excretion; decreasing bone resorption; and removing excess calcium through dialysis. We report on an adolescent with thalassemia who developed severe hypercalcemia during regular clinical follow-up for hypoparathyroidism treatment with calcitriol and calcium. He was also receiving levothyroxine for primary hypothyroidism and iron chelation therapy with desferioxamine mesylate for the severe iron overload.
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Calcitriol/efectos adversos , Hipercalcemia/inducido químicamente , Hipoparatiroidismo/sangre , Adolescente , Calcitonina/uso terapéutico , Calcitriol/uso terapéutico , Furosemida/uso terapéutico , Humanos , Hipercalcemia/tratamiento farmacológico , Hipoparatiroidismo/tratamiento farmacológico , Masculino , Prednisona/uso terapéuticoRESUMEN
Self-medication (SM) is an important worldwide public health issue affecting children and adolescents. The pattern of SM varies in different communities, affected by factors such as age, sex, income, expense, self-care orientation, educational level and medical knowledge. It is a fairly common practice: for minor health problems, it often provides cheap, rapid, and convenient solutions, outside of the health care system of many countries. Painkillers, antipyretics, cough medicines, cold preparations, dermatological products, nutritional supplements and antibiotics are the drugs most frequently used. Potential risks include incorrect self-diagnosis, improper dosage, inappropriate choice of therapy, masking of severe disease and drug interactions. Lack of awareness of warnings and precautions, storage conditions, the recommended shelf-life and adverse reactions increase the risk of side effects. Little is known about the SM of dysmenorrhea by adolescent girls. Attitudes towards treatment are influenced by cultural, ethnic, and religious factors. Some girls discuss dysmenorrhea with family and friends, and the majority may not seek medical advice. As dysmenorrhea is a common problem for adolescents, it is essential that these girls be aware of the normal and abnormal symptoms of menstruation. In the light of these findings, the roles of family, school, health professionals and health authorities are of utmost importance for the implementation of measures to approach this health problem in a more efficient way.
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Dismenorrea/terapia , Conocimientos, Actitudes y Práctica en Salud , Automedicación , Analgésicos/administración & dosificación , Analgésicos/efectos adversos , Terapias Complementarias , Interacciones Farmacológicas , Escolaridad , Femenino , Alfabetización en Salud , Calor/uso terapéutico , Humanos , Medicamentos sin Prescripción/administración & dosificación , Medicamentos sin Prescripción/efectos adversos , Prevalencia , AutocuidadoRESUMEN
Juvenile fibromyalgia syndrome (JFMS) is a chronic condition characterized by symptoms of chronic diffuse musculoskeletal pain and multiple painful tender points on palpation. It is often accompanied by fatigue, disorders of sleep, chronic headaches, irritable bowel syndrome, and subjective soft tissue swelling. The complexity of the presenting clinical picture in JPFS has not been sufficiently defined in the literature. Similarities to adult fibromyalgia syndrome in JFMS are often difficult to compare, because many of the symptoms are "medically unexplained" and often overlap frequently with other medical conditions. However, a valid diagnosis of JFMS often decreases parents' anxiety, reduces unnecessary further investigations, and provides a rational framework for a management plan. The diagnostic criteria proposed by Yunus and Masi in 1985 to define JFMS were never validated or critically analyzed. In most cases, the clinical diagnosis is based on the history, the physical examination that demonstrates general tenderness (muscle, joints, tendons), the absence of other pathological conditions that could explain pain and fatigue, and the normal basic laboratory tests. Research and clinical observations defined that JFMS may have a chronic course that impacts the functional status and the psychosocial development of children and adolescents. This paper briefly reviews the existing knowledge on JFMS focusing on the diagnosis, clinical and the epidemiological characteristics in children and adolescents for better understanding of this disorder.
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Fibromialgia/diagnóstico , Adolescente , Niño , Diagnóstico Diferencial , Femenino , Fibromialgia/epidemiología , Fibromialgia/etiología , Fibromialgia/terapia , Humanos , Masculino , PronósticoRESUMEN
Bone disorders in patients with thalassemia major (TM) and intermedia (TI) constitute complex conditions that result from various factors affecting the growing skeleton. Although much progress has been made in our understanding of the natural history, pathogenesis and clinical manifestations of ß- and δß-thalassemia, bone manifestations remain a puzzle for the clinician. In this review, we outline the key points in the current literature on the pathogenesis and management of bone disease in patients with TM and TI who were conventionally treated in recent decades with frequent blood transfusions and iron chelation. Prevention, early recognition and treatment are the most effective strategies for the management of bone disease in these patients. However, further studies are required to maintain optimal bone health for both TM and TI patients. Studying bone disease in patients with non-transfusion dependent TI, which seems to worsen considerably with age, is important to delineate the effect of the disease itself on bone health without the intervening factors of transfusions, iron intoxication and chelation.
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Enfermedades Óseas/etiología , Talasemia beta/complicaciones , Animales , Enfermedades Óseas/genética , Enfermedades Óseas/patología , Enfermedades Óseas/terapia , Remodelación Ósea , Humanos , Talasemia beta/genética , Talasemia beta/patología , Talasemia beta/terapiaRESUMEN
Endometriosis (EM) occurring in adolescents presents distinct clinical and histologic characteristics compared to the disease in women. Because the symptoms of EM are nonspecific, often overlapping with those experienced in a range of gynecological and gastrointestinal conditions, the process of reaching a diagnosis of EM is often delayed. The diagnosis of EM is suspected depending on the history and the symptoms and signs, is corroborated by physical examination and imaging techniques, and is finally proved by histological examination of specimens collected during laparoscopy. Currently, there is insufficient evidence to make strong recommendations for management in adolescents who may have EM. This short report reviews some peculiarities of EM in adolescents and provides an update of recent knowledge of the diagnosis and treatment of EM. We hope that the present contribution may help to bring more attention to the clinical diagnosis of EM and consequently aid in decreasing diagnostic delay.
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Dismenorrea/diagnóstico , Endometriosis/diagnóstico , Adolescente , Dolor Crónico/terapia , Diagnóstico Tardío , Progresión de la Enfermedad , Dismenorrea/clasificación , Dismenorrea/terapia , Endometriosis/clasificación , Endometriosis/fisiopatología , Endometriosis/terapia , Femenino , Humanos , Incidencia , Ensayos Clínicos Controlados Aleatorios como Asunto , Factores de Riesgo , Índice de Severidad de la EnfermedadRESUMEN
Varicocele is a dilatation of the veins of the pampiniform plexus caused by reflux within the spermatic venous system. In the majority of cases it becomes apparent during pubertal development. The etiology of varicocele is likely multifactorial. The varicocele may have a negative effect on gonadal growth in the pediatric-adolescent age group and may be associated with a significant reduction in testicular volume and progressive decline in testicular function. The most likely mechanism is an elevation of testicular temperature due to an impaired counter-current heat exchange mechanism. Initial diagnosis is based on the clinical examination, which, in selected cases, may be followed by other non-invasive evaluations: Doppler, color Doppler ultrasound of the spermatic cord (the examination of choice), or ultrasound of the testis. The role of hormonal studies (gonadotropin, testosterone and inhibin B levels) is controversial and analysis of seminal fluid may be difficult to obtain in a minor. This statement offers recommendations regarding the best practice policies for evaluation and treatment of varicocele in adolescents.
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Cordón Espermático , Varicocele , Adolescente , Humanos , Masculino , Testículo , Testosterona , VenasAsunto(s)
Enfermedades del Sistema Endocrino , Trastornos del Crecimiento , Talasemia , Niño , Enfermedades del Sistema Endocrino/diagnóstico , Enfermedades del Sistema Endocrino/etiología , Enfermedades del Sistema Endocrino/fisiopatología , Trastornos del Crecimiento/diagnóstico , Trastornos del Crecimiento/etiología , Trastornos del Crecimiento/fisiopatología , Humanos , Talasemia/complicaciones , Talasemia/diagnóstico , Talasemia/fisiopatologíaRESUMEN
Caffeinated energy drinks (EDs) are increasingly popular among adolescents despite growing evidence of their negative health effects. The consumption of EDs has seen a substantial increase during the past few decades, especially in the Western and Asian countries. EDs contain high levels of caffeine, sugar, and novel ingredients, and are often marketed through youth-oriented media and venues. The known and unknown pharmacology of the constituents of EDs poses a risk of caffeine toxicity and other ill effects when consumed by young people. Caffeine intoxication may result in tachycardia, vomiting, cardiac arrhythmias, seizures, and even death. Other health concerns related to consumption of EDs include obesity and dental enamel erosion resulting from the acidity of EDs. Coingestion of caffeine and ethanol has been associated with increased risk-taking behaviors in adolescent users, impaired driving, and increased use of other illicit substances. Several researchers have demonstrated that consuming alcohol mixed with energy drinks leads to altered subjective states including decreased perceived intoxication, enhanced stimulation, and increased desire to drink/increased drinking compared to consuming alcohol alone. Caffeine's effect on intoxication may be most pronounced when mixers are artificially sweetened, that is, lack sucrose which slows the rate of gastric emptying of alcohol. IN CONCLUSION: 1) health care providers should educate youth and their parents about the risks of caffeinated drinks; 2) emergency department clinicians should consider asking patients about ED and traditional caffeine usage and substance use when assessing patient symptoms; 3) policy makers should increase their attention on introducing regulatory policies on television food advertising to which youth are exposed; 4) failure to comply with standards for efficacious product labelling, and absence of broader education regarding guidelines, need to be addressed and 5) further studies must be done to improve our understanding of potential negative consequences of caffeinated energy drinks on health.
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Cafeína/efectos adversos , Bebidas Energéticas/efectos adversos , Salud Pública , Adolescente , Bebidas Energéticas/análisis , Humanos , Educación del Paciente como Asunto , PubertadRESUMEN
BACKGROUND: Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. ß-thalassaemia is characterised by the reduced synthesis (ß+) or absence (ßo) of the ß-globin chains in the HbA molecule, resulting in accumulation of excess unbound α-globin chains that precipitate in erythroid precursors in the bone marrow and in the mature erythrocytes, leading to ineffective erythropoiesis and peripheral haemolysis. Approximately 1.5% of the global population are heterozygotes (carriers) of the ß-thalassemias; there is a high incidence in populations from the Mediterranean basin, throughout the Middle East, the Indian subcontinent, Southeast Asia, and Melanesia to the Pacific Islands. AIM: The principal aim of this paper is to review, from a historical standpoint, our knowledge about an ancient disease, the ß-thalassemias, and in particular, when, how and in what way ß-thalassemia spread worldwide to reach such high incidences in certain populations. RESULTS: Mutations involving the ß-globin gene are the most common cause of genetic disorders in humans. To date, more than 350 ß-thalassaemia mutations have been reported. Considering the current distribution of ß- thalassemia, the wide diversity of mutations and the small number of specific mutations in individual populations, it seems unlikely that ß-thalassemia originated in a single place and time. CONCLUSIONS: Various processes are known to determine the frequency of genetic disease in human populations. However, it is almost impossible to decide to what extent each process is responsible for the presence of a particular genetic disease. The wide spectrum of ß-thalassemia mutations could well be explained by looking at their geographical distribution, the history of malaria, wars, invasions, mass migrations, consanguinity, and settlements. An analysis of the distribution of the molecular spectrum of haemoglobinopathies allows for the development and improvement of diagnostic tests and management of these disorders.
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Iron overload in patients with thalassemia major (TM) affects glucose regulation and is mediated by several mechanisms. The pathogenesis of glycaemic abnormalities in TM is complex and multifactorial. It has been predominantly attributed to a combination of reduced insulin secretory capacity and insulin resistance. The exact mechanisms responsible for progression from norm glycaemia to overt diabetes in these patients are still poorly understood but are attributed mainly to insulin deficiency resulting from the toxic effects of iron deposited in the pancreas and insulin resistance. A group of endocrinologists, haematologists and paediatricians, members of the International Network of Clinicians for Endocrinopathies in Thalassemia and Adolescence Medicine (ICET-A) convened to formulate recommendations for the diagnosis and management of abnormalities of glucose homeostasis in thalassemia major patients on the basis of available evidence from clinical and laboratory data and consensus practice. The results of their work and discussions are described in this article.
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The American Academy of Pediatrics recommends that young people between the ages of 11 and 21 years should be seen annually by their pediatricians, since annual checkups can be an important opportunity for health evaluation and anticipatory guidance. Parents of infants and young children are accustomed to regularly visiting a pediatrician for their child's checkups. Unfortunately, when children reach the teen years, these annual checkups may decrease in frequency. In routine check-ups and medical office visits, particular attention should be paid to the possibility of a developmental or endocrine disorder. Early diagnosis and treatment may prevent medical complications in adulthood and foster age-appropriate development. Our purpose is to acquaint readers with the concept, based on current scientific understanding, that some endocrine disorders may be associated with a wide range of deleterious health consequences including an increased risk of hypertension and hyperlipidemia, increased risk of coronary artery disease, type 2 diabetes, significant anxiety and lack of self-esteem. Understanding the milestones and developmental stages of adolescence is essential for pediatricians and all other health providers who care for adolescents. Treating adolescents involves knowledge of a variety of medical, social and legal information; in addition, close working relationships must be established within the adolescent's network to create an effective care system. In summary, we underline the importance of a periodic endocrine checkup in adolescents in order to identify endocrine problems early and develop an approach to treatment for those patients who need help during this time. Indications for endocrine referral for professional and other healthcare providers are also included. These lists are clearly not intended to be comprehensive, but will hopefully serve as a guide for specific clinical circumstances.
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INTRODUCTION: IGF-1 deficiency in TM patients in children and adolescents has been attributed to chronic anemia and hypoxia, chronic liver disease, iron overload and other associated endocrinopathies, e.g. growth hormone deficiency (GHD). Few data are available in the literature regarding adult TM patients and growth disorders. The aim of this study was to measure IGF-1 values and other clinical data in a large number of adult patients with TM to evaluate the possible relationships between them. PATIENTS AND METHODS: A cohort of 120 adult patients with TM was studied for plasma levels of IGF-1. Plasma total IGF-1 was determined by chemiluminescent immunometric assay (CLIA) method. In eleven patients (3 females) the GH response during glucagon stimulation test (GST) was also evaluated. RESULTS: Fifty percent of patients (33 males and 27 females) had IGF-1 levels <- 2 SDs below normative values for healthy subjects matched for age and sex. In these patients endocrine complications and elevations of aminotransferases (ALT) were more common compared to TM patients with IGF1 > -2SDs. In multivariate regression analyses, height, weight, BMI, serum ferritin, ALT, HCV serology and left ventricular ejection fraction (LVEF) were not significantly related to IGF-1, but a significant correlation was found in females between HCV-RNA positivity and IGF-1, ALT and serum ferritin. AGHD was diagnosed in 6 (4 males) out of 11 patients (54.5%) who had glucagon stimulation tests and in 5 out of 8 (62.5%) with IGF-1 <-2SD. The mean age of patients with GHD was 39.3 years (range: 25-49 years, median: 39 years) versus 35.8 years (range: 27-45 years, median: 37.5 years) in non-GHD patients. A positive correlation between GH peak after GST and IGF-1 level was found (r: 0.6409; p: < 0.05). CONCLUSIONS: In 50% of TM patients the IGF-1 levels were 2SDs below average values for healthy individuals. IGF-1 deficiency was more common in TM patients with associated endocrine complications, and a significant correlation was found in HCV-RNA positive females among IGF-1, ALT, and serum ferritin. Further data in a larger group of patients are needed to confirm whether IGF-1 level <-2 SDs may be a potential criterion for additional studies in TM patients. This datum could avoid performing GH stimulation tests in the majority of them.
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The current management of thalassemia includes regular transfusion programs and chelation therapy. It is important that physicians be aware that endocrine abnormalities frequently develop mainly in those patients with significant iron overload due to poor compliance to treatment, particularly after the age of 10 years. Since the quality of life of thalassemia patients is a fundamental aim, it is vital to monitor carefully their growth and pubertal development in order to detect abnormalities and to initiate appropriate and early treatment. Abnormalities should be identified and treatment initiated in consultation with a pediatric or an adult endocrinologist and managed accordingly. Appropriate management shall put in consideration many factors such as age, severity of iron overload, presence of chronic liver disease, thrombophilia status, and the presence of psychological problems. All these issues must be discussed by the physician in charge of the patient's care, the endocrinologist and the patient himself. Because any progress in research in the field of early diagnosis and management of growth disorders and endocrine complications in thalassemia should be passed on to and applied adequately to all those suffering from the disease, on the 8 May 2009 in Ferrara, the International Network on Endocrine Complications in Thalassemia (I-CET) was founded in order to transmit the latest information on these disorders to the treating physicians. The I-CET position statement outlined in this document applies to patients with transfusion-dependent thalassemia major to help physicians to anticipate, diagnose, and manage these complications properly.
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PURPOSE OF REVIEW: This review provides an update on hypoparathyroidism (HPT), focusing on the major aspects of diagnosis, clinical manifestations and management of patients with hypocalcaemia due to HPT. RECENT FINDINGS: Recent advances in the understanding of the physiologic actions of parathormone (PTH) and vitamin D, and the application of molecular genetics, have clarified certain aspects of the pathogenesis, classification, diagnosis and management of HPT. SUMMARY: PTH promotes bone resorption, decreases urinary calcium excretion, enhances the conversion of 25-hydroxyvitamin D to 1, 25-dihydroxyvitamin D and increases intestinal calcium absorption and phosphate renal excretion. Understanding the molecular cause of the disease in patients and their families has the potential for proper tailoring of genetic counselling, family screening and treatment. Signs and symptoms may be associated not only with the severity, chronicity and therapeutic endpoints in HPT but also with the different causes of the disease. Hypocalcaemia may be an asymptomatic laboratory finding or a life-threatening metabolic disturbance. Although the therapy of acute hypocalcaemia is usually readily accomplished, chronic hypocalcaemia remains a very difficult treatment problem. Replacement therapy with PTH could be a therapeutic option for refractory HPT.