Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome

Close, Sharron; Fennoy, Ilene; Smaldone, Arlene; Reame, Nancy King

doi:10.1016/j.jpeds.2015.06.037

Cited by 41 publications

(38 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Herihly et al found poor body image and reduced self-esteem in a cohort of 87 men with XXY (Herlihy et al 2011). Close et al found that a higher number of XXY-related physical characteristics was associated with decreased quality of life and self-concept in a group of 43 boys with XXY (Close et al 2015). These findings are supported by research that has revealed that perceived body image dissatisfaction is positively correlated with anxiety and depression and negatively correlated with self-esteem (Kostanski and Gullone 1998).…”

Section: Discussionmentioning

confidence: 99%

“…Depression and anxiety were another top concern raised by participants of all ages in this study, which poses a significant quality of life issue. Health care providers are becoming increasingly aware of the psychiatric and psychosocial challenges faced by boys and men with XXY (Bruining et al 2009;Close et al 2015;Geschwind and Dykens 2004;Herlihy et al 2011;Ross et al 2012;Tartaglia et al 2010). Screening boys and men for depression, anxiety, and other mental health issues can facilitate early diagnosis and treatment, and should be a routine part of caring for individuals with XXY.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults

Turriff

Macnamara

Levy

et al. 2016

Journal of Genetic Counseling

View full text Add to dashboard Cite

Klinefelter syndrome (XXY) is a common yet significantly underdiagnosed condition with considerable medical, psychological and social implications. Many health care providers lack familiarity with XXY, resulting in medical management challenges and a limited understanding of the personal impact of the condition. Genetic counselors benefit from understanding the challenges adolescents and men with XXY face to effectively address their medical and psychosocial needs. The purpose of this study was to understand the impact of living with XXY as an adolescent or an adult. Individuals aged 14 to 75 years with self-reported XXY were recruited from online support networks to complete a web-based survey that included open-ended questions. Open-ended responses were coded and analyzed thematically (n = 169 to 210 for each open-ended question). Over half of respondents to the open-ended questions reported challenges in finding health care providers who are knowledgeable about XXY, with many describing an extensive diagnostic odyssey and relief when receiving a diagnosis. Individuals sought support coping with the challenges they face and acknowledgement of the positive aspects of XXY. Recommendations are made for how genetic counseling can enhance quality of life for individuals living with XXY.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults

Turriff

Macnamara

Levy

et al. 2016

Journal of Genetic Counseling

View full text Add to dashboard Cite

show abstract

“…We conducted an exploratory descriptive study to better understand phenotype, biomarkers, and psychosocial health parameters of boys with Klinefelter syndrome between the ages of 8 and 18 years [46]. The study protocol included a physical examination, blood collection for reproductive and cardiovascular biomarkers, and psychosocial health measurements including quality of life, self-esteem, self-concept, and risk for depression.…”

Section: Methodsmentioning

confidence: 99%

Using Information Technology and Social Networking for Recruitment of Research Participants: Experience From an Exploratory Study of Pediatric Klinefelter Syndrome

Smaldone²,

Fennoy³

et al. 2013

J Med Internet Res

Self Cite

View full text Add to dashboard Cite

BackgroundRecruiting pediatric samples for research may be challenging due to parental mistrust of the research process, privacy concerns, and family time constraints. Recruitment of children with chronic and genetic conditions may further complicate the enrollment process.ObjectiveIn this paper, we describe the methodological challenges of recruiting children for research and provide an exemplar of how the use of information technology (IT) strategies with social networking may improve access to difficult-to-reach pediatric research participants.MethodsWe conducted a cross-sectional descriptive study of boys between the ages of 8 and 18 years with Klinefelter syndrome. This study presented unique challenges for recruitment of pediatric participants. These challenges are illustrated by the report of recruitment activities developed for the study. We reviewed the literature to explore the issues of recruiting children for research using conventional and IT approaches. Success rates of conventional recruitment approaches, such as brochures, flyers in medical offices, and physician referrals, are compared with IT-based outreach. The IT approaches included teleconferencing via a Klinefelter syndrome support group, services of a Web-based commercial recruitment-matching company, and the development of a university-affiliated research recruitment website with the use of paid advertising on a social networking website (Facebook).ResultsOver a 3-month period, dissemination of over 150 recruitment brochures and flyers placed in a large urban hospital and hospital-affiliated clinical offices, with 850 letters to physicians and patients were not successful. Within the same period, face-to-face recruitment in the clinical setting yielded 4 (9%) participants. Using Web-based and social networking approaches, 39 (91%) agreed to participate in the study. With these approaches, 5 (12%) were recruited from the national Klinefelter syndrome advocacy group, 8 (19%) from local and teleconference support groups, 10 (23%) from a Web-based research recruitment program, and 16 (37%) from the university-affiliated recruitment website. For the initial 6 months, the university website was viewed approximately 2 to 3 times per day on average. An advertisement placed on a social networking site for 1 week increased website viewing to approximately 63 visits per day. Out of 112 families approached using all of these methods, 43 (38%) agreed to participate. Families who declined cited either travel distance to the study site (15, 22%) or unwillingness to disclose the Klinefelter syndrome diagnosis to their sons (54, 78%) as the reasons for nonparticipation.ConclusionsUse of Web-based technologies enhances the recruitment of difficult-to-reach populations. Of the many approaches employed in this study, the university-affiliated recruitment website supported by a Facebook advertisement appeared to be the most successful. Research grant budgets should include expenses for website registration and maintenance fees as well as online advertisements ...

show abstract

“…Среди особенностей психического развития у детей с СК выделяют эмоциональную лабильность, высокую тревожность, склонность к депрессивным состояниям, низкую мотивацию к деятельности и заниженную самооценку [18]. H. Bruining и соавт.…”

Section: клиническая картинаunclassified

Klinefelter syndrome in children and adolescents

Bespalyuk

Алексеевна²,

Чугунов

et al. 2018

Probl Endokrinol (Mosk)

View full text Add to dashboard Cite

Klinefelter syndrome is a chromosomal pathology, which is the most common anomaly of sex chromosomes and the most common form of primary male hypogonadism. The presence of an extra X-chromosome in the karyotype causes infertility, azoospermia, small size of testicles, high level of gonadotropins and low level of testosterone, tallness and disproportionate physique, learning difficulties, and developmental speech disorders. Despite the high incidence of the syndrome in the population, only 25% of patients are aware of their disease during their lifetime. Late diagnosis and delayed treatment are often due to pronounced clinical polymorphism of the disease, different symptom onset time, as well as high incidence of associated conditions, so that these patients are followed by various specialists, but they are not aware of the main diagnosis. This review presents data on the history, etiology of the syndrome, clinical and laboratory features characteristic of children, adolescents, and adults. The most common associated diseases are listed and current data on their prevalence and the effect of testosterone replacement therapy on these conditions are provided.

show abstract

Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome

Abstract: Depending on the degree of phenotypic abnormality, boys with KS may be at risk for impaired QOL. Testosterone levels were not shown to influence psychosocial health. The Klinefelter Phenotype Index Scale may be a useful tool to characterize KS features in boys.

Cited by 41 publications

References 23 publications

The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults

The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults

Using Information Technology and Social Networking for Recruitment of Research Participants: Experience From an Exploratory Study of Pediatric Klinefelter Syndrome

Klinefelter syndrome in children and adolescents

Contact Info

Product

Resources

About