Socioeconomic Trajectories Affect Mortality in Klinefelter Syndrome

Bojesen, Anders; Stochholm, Kirstine; Juul, Svend; Gravholt, Claus Højbjerg

doi:10.1210/jc.2011-0367

Cited by 67 publications

(57 citation statements)

References 28 publications

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“…[15][16][17]22,36 This qualitative study provides important insight into parents' experiences of the vital role that the presence of obvious or explicit physical features in childhood has in facilitating a timely diagnosis for their child. Under-diagnosis and delay in diagnosis for individuals with KS is more likely in the presence of non-classical or nonspecific physical features, or when only non-physical features such as language and learning problems, or other features outlined in Table 2 are present.…”

Section: Discussionmentioning

confidence: 99%

“…[11][12][13][14] In spite of its high incidence, 75% will remain undiagnosed throughout their lifetime 15,16 and only 10% will be diagnosed before puberty. 17 Although a diagnosis is infrequently made during childhood or adolescence, parental concern often begins during these early life stages. 18 Therefore, parents are intrinsically involved in the search for a diagnosis, and their experiences are essential to better understand how improvements can be made to the rate of diagnosis and the diagnostic process.…”

Section: Introductionmentioning

confidence: 99%

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A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis

et al. 2013

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Klinefelter syndrome (KS) is a common genetic condition that is currently under-diagnosed. The phenotype is broad, with physical, medical and psychosocial features ranging from mild to severe. When a child is diagnosed with KS, the parents may spend months to years searching for a diagnosis. This study used a qualitative methods approach to explore parents' experiences of having a child with KS and receiving a diagnosis. Fifteen semistructured one-to-one in-depth interviews were conducted to explore their experiences and views. The interviews were then transcribed, coded and thematically analysed. The interviews revealed that parents had diverse experiences related to: the timing of the diagnosis of their child and reasons why their child was investigated for KS; the information that was provided at the time of diagnosis; the supports that were available and the concerns that parents held for the future of their child. The conclusions from this study were that parents' experiences of having a child with KS and receiving a diagnosis were complex and multifaceted. This experience was shaped by the timing of when the diagnosis was received, who provided the diagnosis, what information was provided from health-care professionals and that which parents may have encountered on the internet. The long-term experiences for parents were also impacted by the level of support they received. These findings have implications for the process by which KS is recognised by the health-care community and supports available for families.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis

et al. 2013

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“…We retrieved date of emigration, date of death, and the primary cause of death. These outcomes have been described in detail previously (18). None of the registries contain information regarding life style such as smoking habits, diet, or physical activity.…”

Section: Socioeconomic Outcome Parametersmentioning

confidence: 99%

Mortality and socioeconomic status in adults with childhood onset GH deficiency (GHD) is highly dependent on the primary cause of GHD

Stochholm

Juul

Christiansen

et al. 2012

European Journal of Endocrinology

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Objective: Childhood onset GH deficiency (CO-GHD) is associated with increased morbidity and mortality; however, the patients' socioeconomic profile as adults is not fully known. Design: Register study using Danish nationwide registries. Two hundred and sixty GHD males and 156 GHD females and 25 358 male and 15 110 female controls were included. Methods: Information was obtained concerning cohabitation, parenthood, education, income, retirement, convictions, and death. Income was analyzed using conditional logistic regression, and other outcomes were analyzed using Cox regression. Subgroups of GHD patients with malignant tumors, craniopharyngioma, idiopathic GHD, and others were investigated separately. Results: Both male and female GHD patients had a significantly worse outcome on all studied socioeconomic parameters. Fewer GHD patients lived in partnerships and entered them later (male hazard ratio (HR): 0.31; female HR: 0.33), had fewer parenthoods (male HR: 0.26; female HR: 0.26), lower educational level (male HR: 0.58; female HR: 0.48), lower income, higher risk of retirement (male HR: 13.4; female HR: 24.2), and fewer convictions (male HR: 0.67; female HR: 0.49). Mortality was increased (male HR: 10.7; female HR: 21.4). Adjusted for marital and educational status, male HR of death was 5.2 and female HR 10.5. Patients with idiopathic GHD had a socioeconomic profile similar to controls. Conclusion: The primary causes of CO-GHD and concomitant diseases severely impair socioeconomic conditions and impact mortality; only the subgroup of patients with idiopathic GHD conditions was similar to the background population.

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“…However, all these smaller studies could be subject to ascertainment bias and thus the conclusions reached from these studies could lack external validity. In another sex chromosome abnormality, Klinefelter syndrome (47,XXY), we recently documented severely inferior socioeconomic conditions with important influences on mortality in a similar setup with ascertainment of all diagnosed patients nationwide (11). We therefore hypothesized that a similar poor socioeconomic pattern would be present when studying all diagnosed females with TS in a nationwide setup.…”

Section: Introductionmentioning

confidence: 97%

Socioeconomic parameters and mortality in Turner syndrome

Stochholm

Hjerrild

Mortensen

et al. 2012

European Journal of Endocrinology

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Background: Turner syndrome (TS) is characterized by hypogonadism, short adult height, increased morbidity and mortality, contrasted by self-reported normal quality of life and perception of health. Small studies have indicated a similar level of education compared with the background population. Aim: To study the socioeconomic profile in TS and the impact of these factors on mortality. Materials and methods: Register study using Danish nationwide registries. Nine hundred and seventynine TS females and 94 850 controls were included. Information concerning cohabitation, motherhoods, level of education (bachelor degree), income, retirement, and death were obtained. One hundred and three TS and 5989 controls died during the study period. For the socioeconomic parameters, median age at first relevant episode was calculated. Income was analyzed using conditional logistic regression and the other parameters using Cox regression. Results: In comparison with controls, TS had significantly fewer partnerships (hazard ratio (HR): 0.45), fewer motherhoods (HR: 0.18), and retired earlier (HR: 1.8). After the diagnosis of TS, the risk of retiring was increased. Educational attainment (HR: 1.0) as well as risk of unemployment was similar. Before the age of 30, low income was significantly more frequent; hereafter, it was similar to controls. Mortality was significantly increased (HR: 2.9) and slightly lower after adjustment for cohabitation and education (HR: 2.7). Conclusions: A divergent socioeconomic profile is apparent, with a reduced proportion of TS persons finding a partner and becoming mothers. The educational level was similar to controls. The increased mortality in TS was not materially affected after adjustment for cohabitation and education.

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Socioeconomic Trajectories Affect Mortality in Klinefelter Syndrome

Abstract: A severely inferior outcome in all investigated socioeconomic parameters compared with the background population was present and mortality was increased and may partially be caused by the poorer socioeconomic status.

Cited by 67 publications

References 28 publications

A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis

A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis

Mortality and socioeconomic status in adults with childhood onset GH deficiency (GHD) is highly dependent on the primary cause of GHD

Socioeconomic parameters and mortality in Turner syndrome

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