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

被引：33

作者：

Turriff, Amy ^{[1
]}

Macnamara, Ellen ^{[2
]}

Levy, Howard P. ^{[3
,4
]}

Biesecker, Barbara ^{[5
]}

机构：

[1] NEI, NIH, Ophthalm Genet & Visual Funct Branch, 10 Ctr Dr MSC 1860,Bldg 10,Room 10N226, Bethesda, MD 20892 USA

[2] NHGRI, NIH, Off Clin Director, Bethesda, MD 20892 USA

[3] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA

[4] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA

[5] NHGRI, NIH, Social & Behav Res Branch, Bethesda, MD 20892 USA

来源：

JOURNAL OF GENETIC COUNSELING | 2017年 / 26卷 / 04期

基金：

美国国家卫生研究院;

关键词：

Klinefelter syndrome; 47; XXY; Sex chromosome aneuploidy; Psychosocial impact; SEX-CHROMOSOME ANEUPLOIDIES; PRENATAL-DIAGNOSIS; XYY SYNDROME; OF-LIFE; PREVALENCE; 47; XXY; INFERTILITY; ADAPTATION; OUTCOMES; BOYS;

D O I：

10.1007/s10897-016-0041-z

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：728 / 737

页数：10

共 38 条

[1]

Abramsky L, 1997, PRENATAL DIAG, V17, P363, DOI 10.1002/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO

[2]

2-O

[3] What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study [J].

Abramsky, L ;

Hall, S ;

Levitan, J ;

Marteau, TM .

BRITISH MEDICAL JOURNAL, 2001, 322 (7284) :463-466

[4]

BENDER BG, 1995, PEDIATRICS, V96, P302

[5] Prenatal and postnatal prevalence of Klinefelter syndrome: A national registry study [J].

Bojesen, A ;

Juul, S ;

Gravholt, CH .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (02) :622-626

[6] THE MEANING OF EARLY KNOWLEDGE OF A CHILDS INFERTILITY IN FAMILIES WITH 47,XXY AND 45,X CHILDREN [J].

BORELLI, JB ;

BENDER, BG ;

PUCK, MH ;

SALBENBLATT, JA ;

ROBINSON, A .

CHILD PSYCHIATRY & HUMAN DEVELOPMENT, 1984, 14 (04) :215-222

[7] A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis [J].

Bourke, Elyssia ;

Snow, Pamela ;

Herlihy, Amy ;

Amor, David ;

Metcalfe, Sylvia .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (01) :18-24

[8] Psychiatric Characteristics in a Self-Selected Sample of Boys With Klinefelter Syndrome [J].

Bruining, Hilgo ;

Swaab, Hanna ;

Kas, Martien ;

van Engeland, Herman .

PEDIATRICS, 2009, 123 (05) :E865-E870

[9] In the Dark: Challenges of Caring for Sons with Klinefelter Syndrome [J].

Close, Sharron ;

Sadler, Lois ;

Grey, Margaret .

JOURNAL OF PEDIATRIC NURSING-NURSING CARE OF CHILDREN & FAMILIES, 2016, 31 (01) :11-20

[10] Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome [J].

Close, Sharron ;

Fennoy, Ilene ;

Smaldone, Arlene ;

Reame, Nancy .

JOURNAL OF PEDIATRICS, 2015, 167 (03) :650-657

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