Women who gave birth to girls with Turner syndrome: maternal and neonatal characteristics

Hagman, A.; Wennerholm, Ulla-Britt; Källén, Karin; Barrenäs, M-L; Landin‐Wilhelmsen, Kerstin; Hanson, Charles; Bryman, Inger

doi:10.1093/humrep/deq060

Cited by 29 publications

(21 citation statements)

References 21 publications

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“…Classic associations between advancing age and chromosomally abnormal products of conception are demonstrated in this group. The link between younger age and monosomy X is reaffirmed in our study population [5]. Assisted reproduction technologies, such as ICSI, have been suggested to lead to higher rates of chromosomal abnormalities, however in this study ICSI (69 % vs. 72 % p00.76) did not affect the rate of genetically abnormal products of conception [2,7].…”

Section: Discussionsupporting

confidence: 71%

Characteristics of chromosomal abnormalities diagnosed after spontaneous abortions in an infertile population

Werner

Reh

Grifo

et al. 2012

J Assist Reprod Genet

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Purpose To estimate the prevalence of chromosomally abnormal related miscarriages in an infertile population. Methods Retrospective analysis of cytogenetics obtained by chorionic villi harvesting of the first miscarriage cycle of infertile patients at our center from 2001-2010 were reviewed. Abnormal results were characterized as trisomy, monosomy X, structural, or other. Age, # of eggs, #2PN, # embryos transferred, day of transfer, and performance of intracytoplasmic sperm injection (ICSI) were recorded. Results In a study population of 299 patients with a mean age of 38.0±4.5 y, 276(92 %) patients had some form of assisted reproductive technologies (ART), and 244(82 %) had IVF. Of all results, 71.6 % had an abnormal karyotype. Patients with abnormal cytogenetics were older (38.6±4.1 vs. 36.3± 4.9, p<0.001), and more likely to have a day 3 transfer (age <38(20.7 %) vs. age 38 (46.3 %), p0<0.001) with more embryos transferred (3.0±1.2, vs. 2.3±0.9, p<0.001). The performance of ICSI did not affect the rate of cytogenetically abnormal products of conception (ICSI 68.3 % vs. no ICSI 70.7 %). In comparing patients, monosomy X was more common in <38 y. Rates of trisomy, although not statistically significant, were higher in older patients. Conclusions The classic associations between advancing age and chromosomal abnormalities, and younger age and monosomy X, are affirmed in our infertile population. There was no increase in chromosomal abnormalities in cycles where ICSI was performed. Older patients are more likely to have day 3 transfers and more embryos transferred. Our chromosomal abnormality rates are higher than classic estimates but comparable to recent studies. The limitation of this study was a lack in uniformity among practitioners in recommending all patients have a Dilation and Curettage (D&C) at time of diagnosis. Such information may serve to improve the counseling of patients after miscarriage.

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Section: Discussionsupporting

confidence: 71%

Characteristics of chromosomal abnormalities diagnosed after spontaneous abortions in an infertile population

Werner

Reh

Grifo

et al. 2012

J Assist Reprod Genet

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“…Previous studies have reported different effects on birth anthropometric data in TS patients (24,26,27), and some of these studies found no association with karyotype subgroup (27), probably due to the limited number of subjects studied. In two studies, BW was shown to be more affected in patients monosomic for the SHOX gene than in patients disomic for this gene (24,26). A detailed analysis of all anthropometric data as a function of GA extended our understanding of the impact of karyotype subgroup in TS on fetal growth, in terms of BW, BL, and head circumference.…”

Section: European Journal Of Endocrinologymentioning

confidence: 92%

“…Some authors have reported more severe spontaneous growth deficits in patients with monosomy of the short arm of the X chromosome than in those with disomy (11,21,22,23,24,25,26). Others found no significant difference in height between several karyotype subgroups (27,28,29).…”

Section: Introductionmentioning

confidence: 99%

X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome

Fiot

Zénaty

Boizeau

et al. 2016

European Journal of Endocrinology

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Objective: Short stature is a key aspect of the phenotype of patients with Turner syndrome (TS). SHOX haploinsufficiency is responsible for about two-thirds of the height deficit. The aim was to investigate the effect of X-chromosome gene dosage on anthropometric parameters at birth, spontaneous height, and adult height (AH) after growth hormone (GH) treatment. Design: We conducted a national observational multicenter study. Methods: Birth parameter SDS for gestational age, height, and AH before and after GH treatment respectively, and height deficit with respect to target height (SDS) were classified by karyotype subgroup in a cohort of 1501 patients with TS: 45,X (36%), isoXq (19%), 45,X/46,XX (15%), XrX (7%), presence of Y (6%), or other karyotypes (17%). Results: Birth weight, length (P!0.0001), and head circumference (P!0.001), height and height deficit with respect to target height (SDS) before GH treatment, at a median age of 8.8 (5.3-11.8) years and after adjustment for age and correction for multiple testing (P!0.0001), and AH deficit with respect to target height at a median age of 19.3 (18.0-21.8) years and with additional adjustment for dose and duration of GH treatment (PZ0.006), were significantly associated with karyotype subgroup. Growth retardation tended to be more severe in patients with XrX, isoXq, and, to a lesser extent, 45,X karyotypes than in patients with 45,X/46,XX karyotypes or a Y chromosome. Conclusion: These data suggest that haploinsufficiency for an unknown Xp gene increases the risk of fetal and postnatal growth deficit and short AH with respect to target height after GH therapy.

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“…For all individuals, we used the highest available education level and socioeconomic position as registered until 2009 (in children, we used the highest available parental level of education and socioeconomic position). 24 Using data from the Medical Birth Register, we included maternal age at delivery as a potential confounder because advanced maternal age at delivery has been positively associated with offspring TS 25 and may also be associated with offspring CD. 26 Type 1 diabetes is associated with TS 7 and CD.…”

Section: Covariatesmentioning

confidence: 99%

“…In our sample, the median age at TS diagnosis was 6 years, which is similar to that found in a previous Swedish study. 25 The finding of a relatively high risk of CD among females aged >10 years could also reflect the challenges to clinically recognize CD in very young females with TS. Previous research on TS has shown that subclinical CD is common and that those with symptomatic CD, despite a high level of suspicion, frequently face long diagnostic delays.…”

Section: Interpretation Of Findings and Previous Literaturementioning

confidence: 99%

Turner Syndrome and Celiac Disease: A Case-Control Study

et al. 2016

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Women who gave birth to girls with Turner syndrome: maternal and neonatal characteristics

Abstract: Advanced maternal age and short stature were risk factors for giving birth to a girl with TS. More TS girls were born late preterm and were smaller for gestational age than non-TS girls in the general population.

Cited by 29 publications

References 21 publications

Characteristics of chromosomal abnormalities diagnosed after spontaneous abortions in an infertile population

Characteristics of chromosomal abnormalities diagnosed after spontaneous abortions in an infertile population

X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome

Turner Syndrome and Celiac Disease: A Case-Control Study

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