Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome

El-Mansoury, Mohamed Mostafa; Barrenäs, Marie-Louise; Bryman, Inger; Hanson, Charles; Larsson, Christina; Wilhelmsen, Lars; Landin‐Wilhelmsen, Kerstin

doi:10.1111/j.1365-2265.2007.02807.x

Cited by 107 publications

(102 citation statements)

References 36 publications

(91 reference statements)

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“…The reduced chance of finding a partner indicates that the awareness of the TS diagnosis to some degree may influence the TS persons' expectations or self-esteem. It also indicates that the phenotype of the TS persons diagnosed late is not as affected as those diagnosed early, as shown previously in a Swedish cohort (12). Nevertheless, we assume that a puberty as similar to peers as possible in onset and timing is important for the individual TS person, in line with previous findings of an increased quality of life in those with spontaneous pubertal timing (13).…”

Section: Discussionsupporting

confidence: 77%

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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Section: Discussionsupporting

confidence: 77%

Socioeconomic parameters and mortality in Turner syndrome

Stochholm

Hjerrild

Mortensen

et al. 2012

European Journal of Endocrinology

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“…However, we failed to prove that there is any influence of karyotype on BMD or bone geometry in TS patients in our previous study (8), which is in agreement with many other studies (2,6,7,36,37). A single study showed a normal lumbar spine BMD T-score in patients with 45,X/46,XX mosaicism compared with a decreased BMD T-score in patients with the classical 45,X karyotype (38). However, bone geometry parameters were not assessed in that study.…”

Section: Discussionsupporting

confidence: 70%

Prepubertal Girls With Turner Syndrome and Children With Isolated SHOX Deficiency Have Similar Bone Geometry at the Radius

Souček¹,

Zapletalová

Zemková³

et al. 2013

The Journal of Clinical Endocrinology &Amp; Metabolism

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Context:The low bone mineral density (BMD) and alterations in bone geometry observed in patients with Turner syndrome (TS) are likely caused by hypergonadotropic hypogonadism and/or by haploinsufficiency of the SHOX gene. Objective:Our objective was to compare BMD, bone geometry, and strength at the radius between prepubertal girls with TS and children with isolated SHOX deficiency (SHOX-D) to test the hypothesis that the TS radial bone phenotype may be caused by SHOX-D. Design and Setting:This comparative cross-sectional study was performed between March 2008 and May 2011 in 5 large centers for pediatric endocrinology.Patients: Twenty-two girls with TS (mean age 10.3 years) and 10 children with SHOX-D (mean age 10.3 years) were assessed using peripheral quantitative computed tomography of the forearm.Main outcomes: BMD, bone geometry, and strength at 4% and 65% sites of the radius were evaluated.Results: Trabecular BMD was normal in TS (mean Z-score ϭ Ϫ0.2 Ϯ 1.1, P ϭ .5) as well as SHOX-D patients (mean Z-score ϭ 0.5 Ϯ 1.5, P ϭ .3). At the proximal radius, we observed increased total bone area (Z-scores ϭ 0.9 Ϯ 1.5, P ϭ .013, and 1.5 Ϯ 1.4, P ϭ .001, for TS and SHOX-D patients, respectively) and thin cortex (Z-scores ϭ Ϫ0.7 Ϯ 1.2, P ϭ 0.013, and Ϫ2.0 Ϯ 1.2, P Ͻ .001, respectively) in both groups. Bone strength index was normal in TS as well as SHOX-D patients (Z-scores ϭ 0.3 Ϯ 1.0, P ϭ .2, and 0.1 Ϯ 1.3, P ϭ .8, respectively). Conclusions:The similar bone geometry changes of the radius in TS and SHOX-D patients support the hypothesis that loss of 1 copy of SHOX is responsible for the radial bone phenotype associated with TS. (J Clin Endocrinol Metab 98: E1241-E1247, 2013)

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“…The higher age for pregnancy in TS women suggests that some of the women may have been karyotyped when they were investigated for infertility, recurrent miscarriages, or ovarian failure with premature menopause rather than for reasons of external TS stigmata or disease. The high age at diagnosis and few stigmata in TS mosaics is in line with previous observations (6).…”

Section: Discussionsupporting

confidence: 79%