Adolescent Medicine

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New research being presented at the 2017 Pediatric Academic Societies Meeting in San Francisco finds teens with a past suicide attempt or mental health disorder also have increased access to firearms -- either in their own home or a friend's SAN FRANCISCO - New research being presented at the 2017 Pediatric Academic Societies Meeting found adolescents who reported greatest access to guns -- either in their own home or a friend's - also were among those with higher risk for violent behavior. Researchers discovered additional factors linked with increased firearms access that included past suicide attempts and self-reported mental health disorder diagnoses. Authors of the abstract, "Cause for Concern: The Presence of Mental Health Issues or Violence Involvement is Associated with an Increase in Youth Access to Firearms," will present their findings on Sunday, May 7, at the Moscone Convention Center in San Francisco. Access to firearms poses serious health risks for teens, the abstract authors said, with guns causing 29 percent of all adolescent deaths in the United States. The study, funded by the U.S. Centers for Disease Control and Prevention, involved 1,100 youth between ages 10 and 17 and 647 parents living in two Colorado communities at high risk for violence. The researchers conducted confidential, face-to-face interviews in participants' homes. Among their findings: "It's important for parents, health care providers, teachers, and anyone else working with higher risk youth to recognize they have easier access to firearms, in a variety of ways" said Eric Sigel MD, a professor of pediatrics at the University of Colorado School of Medicine and Adolescent Medicine specialist at Children's Hospital Colorado, who led the study. "Efforts should be made to counsel families of higher risk youth on the safest way to keep firearms away from their children, including either removing guns from the home or keeping them in lock boxes or safe storage devices that kids don't know how to get to," Dr. Sigel said. "This is particularly important when considering that 68 percent of attackers in school shootings obtained the guns from their own home or that of a relative," he said, and that 85 percent of youth who commit suicide used a gun from their home. Dr. Sigel said the findings also highlight the importance of recognizing that access to firearms for higher risk youth often is through their friends. "Especially if a parent is concerned that their child is depressed, they should engage the parents of their child's friends about whether the home their child is spending time at has guns stored in a safe manner," Dr. Sigel said. Dr. Sigel will present the abstract, "Cause for Concern: The Presence of Mental Health Issues or Violence Involvement is Associated with an Increase in Youth Access to Firearms," at 1:05 p.m. Reporters interested in an interview with Dr. Sigel may contact Children's Hospital Colorado media relations officer Elizabeth Whitehead at 303-775-6601, 303-890-8314 (pager) or Elizabeth.Whitehead@childrenscolorado.org. Please note: only the abstract is being presented at the meeting. In some cases, the researcher may have more data available to share with media, or may be preparing a longer article for submission to a journal. Contact the researcher for more information. The Pediatric Academic Societies (PAS) Meeting brings together thousands of individuals united by a common mission: to improve child health and wellbeing worldwide. This international gathering includes pediatric researchers, leaders in academic pediatrics, experts in child health, and practitioners. The PAS Meeting is produced through a partnership of four organizations leading the advancement of pediatric research and child advocacy: Academic Pediatric Association, American Academy of Pediatrics, American Pediatric Society, and Society for Pediatric Research. For more information, visit the PAS Meeting online at http://www. , follow us on Twitter @PASMeeting and #pasm17, or like us on Facebook. TITLE: Cause for Concern: The presence of mental health issues or violence involvement is associated with an increase in youth access to firearms Background: Firearms cause 29% of all adolescent deaths. Health care providers infrequently address the issue of firearm access, including in high risk situations such as the presence of mental health disorders or violence involvement Objective: Determine the type of access to firearms adolescents report in general, and what factors influence firearm access Design/Methods: A cross sectional, community-wide survey evaluating a Communities that Care intervention to decrease youth violence measured violence characteristics, risk and protective factors, and several firearm measures in two communities at high-risk for violence in a large urban city. A full-census of households were screened for eligibility (youth ages 10-17 residing in the home) by study personnel going door-to-door. Once eligible, youth, and 1 parent, were invited to participate. Confidential face-to-face interviews were conducted in each house. The study was approved by the University of Colorado IRB. An incentive of $20 was provided to each participant. Results: 1100 youth (78% of eligible) and 647 parents (75%) participated. Mean age = 13.3(sd 2.2); 47% male, 60% Hispanic, 29% Black, 18% White; 84% free/reduced lunch. Firearm access was assessed several ways. Only 1.9% had owned a gun or had one in their possession in the last year; However, 6.5% said it would be easy to get a gun; 9.3% knew where to get a gun, and 15.3% had at least 1friend with a gun (handgun 13.3% /long gun-7.9%). Youth reporting having been diagnosed with a mental health disorder had statistically significant increased rates of firearm access, including 28% with at least 1 friend with a gun. Similarly, youth who screened positive on the SDQ for ADHD, Peer, or Conduct Problems had increased rates of firearm access in all firearm domains. Finally, youth who screened positive on a violence risk screen, report aggression or victimization have increased access to firearms compared to peers without risk. Regression analysis for each outcome varied- being male, parental gun ownership, violence risk, and conduct problems significantly predicted increased access to firearms. Conclusion(s): Youth reporting mental health diagnoses and violent behaviors have increased access to firearms in a variety of ways, particularly through their peers and parents that have guns. Providers working with at risk youth should be aware of the variety of ways youth may access firearms and provide appropriate counseling.


The University of Pennsylvania School of Nursing and University of Michigan School of Nursing will co-lead NIH project as part of new Adolescent Trials Network for HIV/AIDS (PHILADELPHIA) October 25, 2016 - The National Institutes of Health (NIH) is funding a project to investigate a personalized web app that is designed to encourage young men at risk for HIV and other sexually transmitted infections (STIs), to get routine testing. The funding for "Get Connected" is supported by the new NIH Adolescent Trials Network. As part of the UNC/Emory Center for Innovative Technology (iTech), the University of Pennsylvania School of Nursing (Penn Nursing) and the University of Michigan School of Nursing are leading the large scale implementation of the project to encourage young men who have sex with men to get tested for HIV and other sexually transmitted infections, including chlamydia, gonorrhea and syphilis. José A. Bauermeister, PhD, MPH, Presidential Associate Professor of Nursing, and Director of the Program in Sexuality, Technology and Action Research (PSTAR) at Penn Nursing, developed the web app. "This web app is distinct from existing online HIV/STI testing center locators in that our web-app provides young men with strategies to overcome barriers that keep them from getting tested. Using tailoring technology, we can customize the content based on users' risk profile, their values and needs, and other characteristics unique to each individual," said Bauermeister, co-principal investigator for the project. Over the next four years, the trial will enroll more than 400 young men between the ages of 15 and 24 who live in Philadelphia, Atlanta and Houston. This initiative is part of a coordinated effort to encourage HIV testing and linkage to care among young people under the age of thirty, the age group that accounts for over forty percent of new HIV infections in the United States. Young men who have sex with men, particularly racial/ethnic minority men between the ages of 15 and 24, account for the greatest proportion of new infections in this age group. This age group is also more likely than adults to own a smartphone and use this device to download apps and access health information. "With high levels of technology use among young people, particularly smart phones and social media, online interventions offer an acceptable and efficient way to reach this highly vulnerable population," said Rob Stephenson, PhD, MSC, Director of the Center for Sexuality and Health Disparities at the University of Michigan School of Nursing, and co-principal investigator in the Get Connected project. "Continuing to examine the public health potential of our web app remains a priority for us," This project also involves co-investigators from the University of North Carolina, Emory University, and the University of Minnesota. The award for iTech is one of three U19 applications funded by the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development to support the new Adolescent Medicine Trials Network (ATN). Research reported in this news release was supported by award number 1U19HD089881-01 The researchers report no conflicts of interest. About the University of Pennsylvania School of Nursing The University of Pennsylvania School of Nursing is one of the world's leading schools of nursing, is consistently ranked as one of the top graduate nursing schools in the United States, and is among the nation's top recipients of nursing research funding from the National Institutes of Health. Penn Nursing prepares nurse scientists and nurse leaders to meet the health needs of a global society through research, education, and practice. Follow Penn Nursing on: Facebook, Twitter, LinkedIn, Instagram & YouTube. About the University of Michigan School of Nursing The University of Michigan School of Nursing (UMSN) is consistently ranked among leading nursing schools in the country and is also one of the leading schools for research funding from NIH. Offering innovative and rigorous academic programs taught by distinguished faculty, the school gives students the opportunities to make a global impact through cutting-edge research, education, and practice. UMSN enrolls more than 1,000 students in the in graduate and BSN programs. To learn more, visit http://www. .


(Prague, May 13, 2017) The results from a Norwegian study show that a new genetic test for characterising intestinal microbiota may help to diagnose inflammatory bowel disease (IBD) in children and predict which children will develop the most extensive disease and need early, aggressive intervention. Researchers from Oslo, Norway today presented the results of a study that evaluated faecal microbiota profiles in more than 100 newly-diagnosed children with IBD and found a clear distinction between the profiles of these children and a healthy comparator group (1). The researchers also found that children with the most disturbed microbiota profiles (dysbiosis) had the most extensive IBD and were more likely to need biological therapy in the future. Speaking at the annual meeting of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) in Prague, lead researcher, Dr Christine Olbjørn from the Department of Paediatric and Adolescent Medicine at Akershus University Hospital in Oslo said the study indicates that this type of profiling could be clinically useful in paediatric practice and long-term patient care. "IBD is often far more aggressive in children than it is in adults but it is very difficult to predict the individual disease course" she said. "We and other researchers are interested in the potential of faecal microbiota profiling to help us diagnose and manage these children and we have been helped by the availability of new genetic tests that can quantify different bacterial species in the gut." To undertake the study, Dr Olbjørn and colleagues from other specialist centres in Norway collected faecal samples from 235 children and adolescents (80 children with Crohn's disease, 27 with ulcerative colitis, three with unclassified IBD, 50 with symptoms, but no IBD diagnosis, and 75 healthy children). The samples were analysed using a new test called the GA-map™ IBD Dysbiosis Test (2), which uses advanced DNA profiling to identify up to 300 different bacteria on different taxonomic levels. The microbiota profiles were then compared between the children with IBD, those with symptoms but no IBD diagnosis, and healthy children. "We found that the probe signal intensity, which indicates the abundance of different bacterial species, was significantly reduced in the children with IBD and those with symptoms, but no IBD, compared to the healthy children", explained Dr Olbjørn. "What was perhaps more intriguing was that the children with more extensive IBD had significantly more Clostridiales, and those with extensive Crohn's disease had more Proteobacteria than children with limited disease. Children who were subsequently treated with TNF blockers had a lower diversity of Firmicutes, Tenericutes and Bacteroidetes as well as lower abundance of Actinobacteria before treatment than those who were ultimately treated with conventional medications." Dr Olbjørn believes that the results of this study add further support to the view that gut microbial dysbiosis play a key role in the pathogenesis of IBD in children. "Our findings suggest that faecal microbiota profiles may be used to identify which children are destined for a more severe form of IBD and which, therefore, need more intensive monitoring and possibly earlier, more aggressive treatment." For further information, or to speak to an ESPGHAN expert, please email media@espghan.org or call James M. Butcher on +44 (0) 1444 811 099. Download an infographic on Paediatric IBD here: http://www. Dr Olbjørn is a paediatric gastroenterologist, and has worked as a consultant at Akershus University Hospital outside of Oslo for several years. Her main interest is IBD- from diagnosis, treatment and follow-up, including transition of care from adolescence to adulthood. She is currently teaching medical students in paediatrics and working on her PhD thesis which elaborates on prognosis in IBD and how to improve individualised and personalised care. The European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) is a multi-professional organisation whose aim is to promote the health of children with special attention to the gastrointestinal tract, liver and nutritional status, through knowledge creation, the dissemination of science based information, the promotion of best practice in the delivery of care and the provision of high quality education for paediatric gastroenterology, hepatology and nutrition professionals in Europe and beyond. Find out more by visiting http://www. About the 50th Annual Meeting of ESPGHAN The 50th Annual Meeting of ESPGHAN is taking place from Wednesday 10 to Saturday 13 May 2017, in Prague, Czech Republic. Every year the ESPGHAN meeting attracts the key opinion leaders in the field of Paediatric Gastroenterology, Hepatology and Nutrition from across Europe and all five continents, turning it into the largest conference of its kind worldwide. The Annual Meeting attracts over 4,000 experts from over 100 countries, all operating in the fields of Paediatric Gastroenterology, Hepatology and Nutrition, turning it into the largest conference of its kind worldwide. This year the meeting has received a record number of 839 accepted abstracts. 1. Olbjørn C, Småstuen MC, Thiis-Evensen E et al. Faecal microbiota profiles at diagnosis in paediatric inflammatory bowel disease. Prediction of disease severity and subsequent need of biologic therapy. Presented at the Annual Meeting of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. Prague, Czech Republic, 13 May, 2017. 2. Casén C, Vebø HC, Sekelja M et al. Deviations in human gut microbiota: a novel diagnostic test for determining dysbiosis in patients with IBS or IBD. Aliment Pharmacol Ther 2015;42(1):71-83.


Corporal punishment in America’s public schools seems like a relic of the past — a practice we had surely banned long ago. The reality, however, is that it’s perfectly legal to physically discipline students as young as preschoolers in 19 states. And according to a new report, corporal punishment is most often used against black students and students with disabilities. Released earlier this week as a “Social Policy Report” from the Society for Research in Child Development, the report found that in Alabama and Mississippi, black children are at least 51 percent more likely to be physically punished than white children in more than half of school districts, while children with disabilities are more then 50 percent more likely to be physically punished than non-disabled students in many southeastern states where the practice is legal. The findings are based on numbers from the U.S. Department of Education’s Office of Civil Rights, which collects corporal punishment data from the nearly 37,000 public schools in states where the practice is allowed. (It’s good to note right away that just because school-based physical punishment is legal in 19 states, does not mean every school in those states uses this form of discipline. In many cases, school officials prohibit the practice.) “It is discouraging that some schools think it’s necessary to still do this in the 21st century when there are so many other options for discipline,” report co-author Elizabeth Gershoff, an associate professor of human development and family sciences at the University of Texas-Austin, told me. “Teaching children with fear and physical control is not the way to teach children to behave.” Gershoff has spent nearly 15 years studying parents’ use of physical punishment on children, and said she became curious about similar punishments being used in schools. And even though schools are required to report such data to federal education officials, there was still a big gap in terms of analyzing that data to gain a clearer view of patterns and trends. In turn, Gershoff and her report co-author, Sarah Font of Pennsylvania State University, decided to fill that gap. The resulting report is now the first-ever effort on the prevalence of corporal punishment at school and school-district levels, as well as on disparities in the use of such punishments. Thankfully, according to the report, the prevalence of corporal punishment in public schools is decreasing, from 4 percent of all schoolchildren in 1978 to less than 0.5 percent today, largely driven by corporal punishment bans enacted in 25 states. Overall, schools that use corporal punishment are largely clustered in the southeastern U.S., with a “geographic concentration” in three states — Arkansas, Alabama and Mississippi — where more than half of the school districts use it. Among the 19 states where corporal punishment is allowed, 12 percent of students attend a school that uses it. During the 2011-2012 school year, most school districts where the practice is legal decided against using it. The two researchers found that during the 2011-2012 school year, more than 163,000 schoolchildren experienced corporal punishment. However, the report noted that number only reflects how many individual students were physically punished, not how many times they may have been physically punished, meaning instances of corporal punishment may be underestimated. Mississippi took the top spot, physically punishing the highest proportion of students, at 7 percent of all students, as well as the largest number, at more than 32,000 students. Alabama and Arkansas followed in terms of prevalence rates, and Texas came in second in terms of numbers of children physically punished. On exactly who is being punished, the report found that racial disparities in the use of corporal punishment are common, with Alabama and Mississippi home to the largest disparities. In particular, black children in those two states are at least 51 percent more likely to receive corporal punishment in over half the school districts. Black children were also three times more likely than white children to be corporally punished in Arkansas, Florida, Georgia, Louisiana and Tennessee. In finding such disparities, Gershoff and Font wondered if black children were simply more likely to attend a school that uses corporal punishment. But they found the opposite — it’s white children who are more likely to attend such a school. They write: The report also found that boys are substantially more likely to experience corporal punishment than girls in more than three-quarters of school districts in Alabama, Mississippi and Arkansas. In some schools, the corporal punishment rate for boys was five times the rate for girls. Also, children with physical, cognitive or emotional disabilities were more than 50 percent more likely to be physically punished in 67 percent of public schools districts in Alabama, 44 percent of districts in Arkansas, 34 percent in Georgia, 35 percent in Louisiana, 46 percent in Mississippi and 36 percent in Tennessee. The researchers noted that because federal law allows for children with disabilities to receive extra support and assistance at school, the corporal punishment disparity may suggest that “school staff are often responding to their challenging behaviors with harsh, rather than positive, disciplinary methods.” “Schools may believe it’s effective and think if they don’t do this, it’ll be pandemonium or that they need corporal punishment as a last resort,” Gershoff told me. “But on many occasions, it’s not being used as a last resort. It’s being used for talking in the hall or going to the bathroom without permission or not turning in homework.” On the effectiveness question, Gershoff said previous research has found that states that banned corporal punishment didn’t experience an increase in juvenile crime. Other research has found that corporal punishment is associated with lower academic achievement and worse behavior among children — findings that are consistent with what Gershoff has documented in studying the effects of spanking by parents. She also noted that several states exempt public school personnel from child abuse statutes, so if a child is injured while being corporally punished, prosecution isn’t an option. To put that in even clearer perspective, Gershoff said that what could constitute child abuse at home — say, injuring a child while punishing them with a wooden board — would get a legal pass at school. Gershoff’s report cited a Society of Adolescent Medicine estimate that more than 270,000 children were corporally punished in 2003, with 10,000-20,000 seeking medical care as a result. Gershoff said the best way to protect all children is a federal ban on corporal punishment in school. “We hope a report like this can help educate the public that children are being harmed and the federal government does have a role in preventing this,” she said. “At the very least, I hope this can educate parents, so they can find out if their school (uses corporal punishment) and opt out.” Gershoff said she plans to continue this line of research, investigating why some school districts use corporal punishment more than others and documenting the outcomes for children who experience corporal punishment. To download a full copy of the report, visit the Society for Research in Child Development. Kim Krisberg is a freelance public health writer living in Austin, Texas, and has been writing about public health for nearly 15 years.


News Article | November 2, 2016
Site: www.eurekalert.org

A study led by Dr K.C. Tan-Un and her team at the School of Biological Sciences, the University of Hong Kong (HKU), in collaboration with Professor Richard Festenstein at the Clinical Sciences Centre, Imperial College London, and Professor Sjaak Phillipsen at Erasmus University, Rotterdam, have discovered a crucial part of the genetic machinery that switches on the Neuroglobin gene. This discovery opens up a new opportunity in treating Alzheimer's disease (AD), such with the development of gene therapy. The study was published recently in the journal Nucleic Acids Research. Neuroglobin has previously been shown to protect the brain of mice and is shown to reduce the severity of damage due to stroke and AD. In human, it is observed that the two major risk factors of AD, age and female sex are associated with lower levels of Neuroglobin. Identifying the "switch" for the neuroglobin gene is therefore of paramount importance, as it will serve as a potential target for the development of novel therapeutic treatments with gene therapy or drugs. AD currently affects more than 70,000 people in Hong Kong and the number is estimated to reach 280,000 in 20 years because of the aging population. Currently the disease is incurable, thus there is an urgent need to find a treatment for the disease. Since the discovery of the neuroglobin gene in 2000, studies have focused on its functions, yet little is known about how the gene is being regulated. The HKU team spent 6 years addressing the mechanism that controls the switching of the Neuroglobin gene. Dr. Tan-Un at HKU led the study with the hypothesis that there is a "switch" that controls the expression of the neuroglobin gene which is located far away from the gene itself. The search of the distal DNA region has been technically challenging and the idea was tested by a series of experiments, carried out by two former PhD students, namely, Tam Kin-tung and Zhang Wei, including a technique called chromosome conformation capture (3C). The research team found that there is a segment of DNA which interacts with the Neuroglobin gene by means of a protein called GATA-2 in human neuronal cells. The results showed that the novel DNA segment is powerful in switching on Neuroglobin expression. Removal of either GATA-2 protein or the DNA segment from the cells led to a substantial decrease in Neuroglobin expression. Professor Godfrey Chi-Fung Chan, a co-author from the Department of Paediatrics and Adolescent Medicine, HKU, said: "AD is an incurable disease at the moment and understanding the control mechanism of an important protector in the neural tissue such as Neuroglobin will provide us with a new therapeutic strategy. In fact, the role of neuroglobin is not confined to degenerative brain disorders, its aberrant role in neurogenic neoplasms is another interesting area to be explored. Therefore knowing how to 'switch on' or 'switch off' this molecule will help us to modulate a variety of human diseases." The discovery of the Neuroglobin switch opens up new opportunities in treating AD, such as the development of gene therapy. To effectively increase the expression of Neuroglobin to protect the brain, the gene together with the newly identified switch may be inserted into the genome. GATA-2 protein may also be manipulated by drugs to induce Neuroglobin expression. As the increase in neuroglobin expression is protective for AD, the team's future research will focus on the identification of factors that will enhance the "switch" mechanism of neuroglobin in brain. Dr. Tan-Un highlighted: "Further understanding this 'switch' and neuroglobin locus will be crucial in the design of efficient gene therapy system for the treatment of Alzheimer's disease and other neurodegenerative diseases." The article "Identification of a novel distal regulatory element of the human Neuroglobin gene by the chromosome conformation capture approach" published recently in the journal Nucleic Acids Research* can be obtained from the following link: *Nucleic Acids Research ranks within the top 6% of Biochemistry and Molecular Biology journals


News Article | December 1, 2016
Site: www.eurekalert.org

INDIANAPOLIS -- An Indiana University nursing researcher has been awarded $1.1 million to study the ethical complexities of involving adolescents ages 14-17 at high risk for HIV in biomedical prevention trials. Amelia "Amy" Knopf, an assistant professor of nursing, received the award, which is supported by the national Adolescent Medicine Trials Network for HIV/AIDS Interventions. The network, also known as ATN, is funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development with support from the National Institute of Mental Health, the National Institute on Drug Abuse, and the National Institute on Minority Health and Health Disparities. Knopf said the multisite study will explore key issues concerning the requirement that these teens obtain parental permission to participate in HIV prevention trials. According to Knopf, HIV infection rates underscore the need to better understand these issues in order to improve recruitment and enrollment of teens at high risk for HIV in biomedical prevention trials. "The U.S. rates of HIV have been declining over time among most groups, but there is a persistent epidemic among young men who have sex with men," Knopf said. In the last decade, the world has seen massive gains in the fight against HIV/AIDS, but the battle is not yet won. While HIV infection rates are declining globally, there remains a persistent epidemic among youth in the United States and around the world, Knopf said. Americans younger than 25 account for more than one in five new HIV infections. Globally, youth ages 15-24 account for 35 percent of new HIV infections. Ending the epidemic requires renewed energy and attention to populations most at risk for infection. "We have new tools for HIV prevention among adults, but they have not been approved for use with adolescents," Knopf said. "The main reason is that it's very difficult to enroll adolescents in the types of clinical trials that lead to the approval of new drugs or prevention mechanisms for adolescents. "The problem, especially for minor men who have sex with men and transgender women, is that for them to be in a clinical trial, they have to come out to their parents about their sexual identity or sexual behavior -- which poses a real, quantifiable social risk for them." Knopf said the study has two goals. One is to better understand how parents of youth who are at risk for HIV view the prospect of not being involved in the consent process. "That's something we really don't know. Parents may say they must be involved in the consent process," Knopf said. "Or parents might say they are willing to allow their children to participate without their permission if it would keep them healthy." The second goal is to determine how willing the teens are to engage their parents in the consent process for enrollment in a clinical trial, Knopf said. "If they are not willing to participate in a trial if their parents' permission is required, we want to better understand what their concerns are," she said. "And if they are willing, we want to understand, from a research perspective, if that is a conversation we could help facilitate." The findings will inform the design of future biomedical trials, which is especially relevant as "we get closer and closer to an HIV vaccine and other biomedical approaches that will need to be tested in adolescents before they can be used with this high risk group," Knopf said. "On this 19th annual World AIDS Day, Dec. 1, we turn our attention to the epidemic among the young people of our country and our world. Our future is intertwined with theirs, and together we can work toward an AIDS-free generation," she said. Co-investigators are Claire Draucker, IU School of Nursing; Dr. Dennis Fortenberry, IU School of Medicine; Dr. Mary Ott, IU School of Medicine; and Gregory Zimet, IU School of Medicine.


Bertelloni S.,Adolescent Medicine | Dati E.,Gynecology and Pediatrics | Valetto A.,Laboratory of Medical Genetics | Bertini V.,Laboratory of Medical Genetics | And 2 more authors.
Hormones | Year: 2015

BACKGROUND: Mixed gonadal dysgenesis (MGD) is a rare disorder. Short stature is a well known feature of this condition. Although growth hormone (GH) treatment has been suggested to treat growth impairment, conflicting data surround this issue. CASE REPORT: We report on long-term growth hormone (GH) therapy at pharmacological doses (0.33 mg/kg/week) in a boy (age 4.6 years) with MGD [karyotype 45,X/46,X,idic(Yp)]. An untreated boy of similar karyotype and growth delay served as control. The treated boy showed a progressive improvement of stature during GH administration. His height completely normalized after 6.5 years of treatment and he reached his target height centile before puberty onset. In the untreated boy, no improvement of growth pattern was found. CONCLUSIONS: We conclude that short boys with MGD and 45,X/46,X,idic(Yp) karyotype may benefit from early GH therapy at pharmacological doses. Evaluation of larger patient samples and additional follow-up till final height are needed to reach definitive conclusions as to the optimal growth-promoting therapy for this disorder of sex development. © 2015, Hellenic Endocrine Society. All rights reserved.


Bertelloni S.,Adolescent Medicine | Baroncelli G.I.,Adolescent Medicine | Massart F.,Adolescent Medicine | Toschi B.,Medical Genetics Laboratory
Sexual Development | Year: 2015

45,X/46,XY mosaicism is a rare sex chromosome disorder of sex development. Short stature is a main feature of boys with this condition. Different causes likely contribute to growth impairment. Growth hormone (GH) has been administered to treat short stature in boys with 45,X/46,XY mosaicism, but conflicting data are available. Here, spontaneous growth patterns as well as short- and long-term follow-up studies during GH therapy in these patients are reviewed. Short- and mid-term data showed an improvement of the growth pattern in GH-treated boys, mainly when hormonal therapy was started early, while long-term follow-up demonstrated similar adult heights in GH-treated and untreated patients. Individual biological factors (e.g. different chromosome constitution, different mosaicism among various tissues, impaired pubertal growth spurt), non-homogeneous GH doses and different ages at start of therapy may contribute to the variable results. Thus, early GH therapy at pharmacological doses may improve the growth pattern of short boys with 45,X/46,XY mosaicism, but data on adult height are disappointing. Evaluation of larger patient samples treated by homogeneous doses and long-term follow-up studies assessing adult height and safety are needed to reach definitive conclusions on GH therapy in boys with 45,X/46,XY mosaicism. © 2015 S. Karger AG, Basel.

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