Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy

Dabrowski, Elizabeth; Johnson, Emilie K.; Patel, Vaibhav B.; Hsu, YeoChing; Davis, Shanlee; Goetsch, Allison L.; Habiby, Reema; Brickman, Wendy J.; Finlayson, Courtney

doi:10.1016/j.jpag.2019.08.011

Cited by 33 publications

(31 citation statements)

References 29 publications

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“…Remarkably, a spontaneous pregnancy has been reported in a female with a predominantly 46,XY karyotype, including in the gonad (95% 46,XY) [141]. A recent study of 44 individuals with Turner syndrome and presence of Y chromosome material found spontaneous menarche in 2/26 (7.6%) of those with a 45,X/46,XY karyotype, although the potential for fertility in these individuals was not reported [142].…”

Section: X/46xymentioning

confidence: 99%

Disorders of Sex Development—Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation

Gomes

Chetty

Jørgensen

et al. 2020

IJMS

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Disorders (or differences) of sex development (DSD) are a heterogeneous group of congenital conditions with variations in chromosomal, gonadal, or anatomical sex. Impaired gonadal development is central to the pathogenesis of the majority of DSDs and therefore a clear understanding of gonadal development is essential to comprehend the impacts of these disorders on the individual, including impacts on future fertility. Gonadal development was traditionally considered to involve a primary ‘male’ pathway leading to testicular development as a result of expression of a small number of key testis-determining genes. However, it is increasingly recognized that there are several gene networks involved in the development of the bipotential gonad towards either a testicular or ovarian fate. This includes genes that act antagonistically to regulate gonadal development. This review will highlight some of the novel regulators of gonadal development and how the identification of these has enhanced understanding of gonadal development and the pathogenesis of DSD. We will also describe the impact of DSDs on fertility and options for fertility preservation in this context.

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Section: X/46xymentioning

confidence: 99%

Disorders of Sex Development—Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation

Gomes

Chetty

Jørgensen

et al. 2020

IJMS

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“…We also analysed bone mineral density in subjects with the 45,X karyotype (n = 28) and compared it with that in subjects with a karyotype other than 45,X (n = 75) because the incidence of spontaneous menarche was previously reported to be low in those with the 45,X karyotype. 14 However, as shown in Table S1, bone mineral density did not significantly differ between the two groups even after adjustments for age, BMI and the presence of spontaneous menarche. Abbreviations: BMD, bone mineral density; aBMD, areal BMD; vBMD, volumetric BMD.…”

Section: Bone Mineral Density Is Higher In Young Adults With Ts Who Showed Spontaneous Menarchementioning

confidence: 83%

“…These results suggest that spontaneous menarche is important for the acquisition of better bone mineral density in young adults with TS independent of age and BMI. We also analysed bone mineral density in subjects with the 45,X karyotype ( n = 28) and compared it with that in subjects with a karyotype other than 45,X ( n = 75) because the incidence of spontaneous menarche was previously reported to be low in those with the 45,X karyotype 14 . However, as shown in Table S1, bone mineral density did not significantly differ between the two groups even after adjustments for age, BMI and the presence of spontaneous menarche.…”

Section: Resultsmentioning

confidence: 99%

“…A multivariate regression analysis revealed that there was no significant association between FSH and aBMD (β = −0.17, p = . 14) or vBMD (β = −0.12, p = .30) after adjustments for age and BMI. between subjects that used 0.625 mg or 1.25 mg of conjugated oestrogen and found that there were no significant differences in serum FSH levels (P = .45), aBMD (P = .59) or vBMD (P = .27).…”

Section: Association Between Serum Fsh Levels and Bone Mineral Densitymentioning

confidence: 99%

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Starting age of oestrogen‐progestin therapy is negatively associated with bone mineral density in young adults with Turner syndrome independent of age and body mass index

Nishigaki¹,

Itonaga

Hasegawa

et al. 2021

Clinical Endocrinology

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Objective Osteoporosis is an important health issue in patients with Turner syndrome (TS), and oestrogen sufficiency has been implicated in increased bone mineral density (BMD); however, the impact of the starting age of hormone replacement therapy (HRT) on bone mineral density remains unclear, particularly during young adulthood. Design A retrospective study from three tertiary care hospitals in Japan. Patients One hundred and three patients with TS aged between 18 and 30 years of age who underwent dual‐energy X‐ray absorptiometry. Measurements Anthropometric parameters, lumbar bone mineral density (L‐BMD), including areal BMD (aBMD) and volumetric BMD (vBMD), karyotypes, the presence of spontaneous menarche, the starting ages of oestrogen replacement therapy (ERT) and oestrogen‐progestin therapy (EPT), and the duration between starting ages of oestrogen replacement therapy and oestrogen‐progestin therapy were investigated. vBMD was calculated based on the Kröger method. Results aBMD was lower in young adults with TS than in an age‐matched reference population. L‐BMD positively correlated with weight and body mass index (BMI). L‐BMD was higher in subjects with spontaneous menarche (N = 22) than in those without. A dose escalation regimen of oestrogen replacement therapy was used in 84% of subjects without spontaneous menarche (N = 81). The starting age of oestrogen replacement therapy and the duration between the starting ages of oestrogen replacement therapy and oestrogen‐progestin therapy negatively and independently correlated with aBMD, but not with vBMD, after adjustment with age and BMI. The starting age of oestrogen‐progestin therapy negatively correlated with L‐BMD independent of age and BMI. Conclusions Early introduction of hormone replacement therapy, particularly oestrogen‐progestin therapy, is important to accrue better L‐BMD in young adults with TS.

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“…Moreover, if the patient has clitoromegaly or masculinized genitalia at birth and virilization at puberty, the possibility of Y chromosome mosaicism should be investigated [10]. If Y chromosome mosaicism is present, the risk of developing gonadoblastoma or dysgerminoma is 10-20% in the second decade of life [7][8][9][10]. The risk increases with increasing age, and the risk of developing gonadoblastoma in dysgenetic gonads increases up to 30% [9][10][11].…”

Section: Introductionmentioning

confidence: 99%

Y Chromosome Material in Turner Syndrome

Akcan¹,

Boduroğlu²

2021

Cureus

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BackgroundTurner Syndrome (TS) is a frequently identified chromosomal disease in humans characterized by short stature, sexual infantilism, streak gonads, primary amenorrhea, and a number of somatic anomalies. Approximately 55% of TS individuals have a nonmosaic 45,X karyotype. In addition, a cell line with a Y chromosome is present in 5% of patients, which is undetectable by the standard cytogenetic analysis. The identification of Y chromatin in some TS individuals has been associated with the development of gonadoblastoma. Therefore, it is important to exclude the presence of Y chromatin in TS individuals. In this study, it was planned to detect cases with mosaicism in terms of Y chromatin with the help of Y whole chromosome probes (WCP) from individuals with TS by fluorescence in situ hybridization (FISH) analysis. MethodologyForty-four patients with Turner syndrome, who were being followed up in the Genetics Unit, were contacted and invited for the study. Of the 44 invited patients, 28 responded to the invitation. In this study, it was planned to detect TS patients with mosaicism in terms of Y chromatin with the help of the Y whole chromosome probe. ResultsThe majority of the cases (71.42%) included in the study carried pure X monosomy, which is the classical Turner syndrome karyotype. Other structural X chromosome aberrations, in isolated or mosaic forms, were less frequently represented. Y chromosome sequences were searched in 28 cases with Turner syndrome by the FISH method using Y whole chromosome probe. Y chromosome sequence was detected in one (3.5%) case of 28 cases. ConclusionsIt is recommended that individuals with Turner syndrome be screened for Y chromatin. Detection of this will provide information and guidance to individuals with Turner syndrome, especially in terms of the risk of developing gonadoblastoma, with advanced clinical consultation. This study was conducted to emphasize the importance of this.

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Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy

Cited by 33 publications

References 29 publications

Disorders of Sex Development—Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation

Disorders of Sex Development—Novel Regulators, Impacts on Fertility, and Options for Fertility Preservation

Starting age of oestrogen‐progestin therapy is negatively associated with bone mineral density in young adults with Turner syndrome independent of age and body mass index

Y Chromosome Material in Turner Syndrome

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