Karyotype classification, clinical manifestations and outcome in 124 Turner syndrome patients in China

Wu, Hua-Hong; Li, Hui

doi:10.1016/j.ando.2017.10.011

Cited by 17 publications

(18 citation statements)

References 9 publications

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“…The levels of breast dissatisfaction are largely in line with the existing literature (Bannink et al, 2006;Bartolin et al, 2012;Ediati et al, 2015;van de Grift et al, 2018). The lowered breast satisfaction is likely the result of the female-atypical breast size and/or morphology (Bartolin et al, 2012;Wu and Li, 2019). Having smaller breasts may result in lower body image, lower self-esteem and feelings of being different.…”

Section: Factors Associated With Breast Satisfactionsupporting

confidence: 77%

“…While research showed that in the general population 90% of females reach the maximum of Tanner breast stage 5 (B5; and most others stage B4) (Mul et al, 2001), a maximum of 50% of women with TS was likely to reach B5 (Pertzelan et al, 1982;Bannink et al, 2009;Labarta et al, 2012). In addition, a wider chest (Wu and Li, 2019) but no major differences in breast morphology (Bartolin et al, 2012) were observed, when compared with controls.…”

Section: Introductionmentioning

confidence: 97%

“…In girls/women with DSD, breast development may be limited, when compared with women without DSD, due to lower estrogen production and/or effects. Over the years, a few studies on breast development have been published considering women with TS (Pertzelan et al, 1982;Bannink et al, 2009;Bartolin et al, 2012;Labarta et al, 2012;Ankarberg-Lindgren et al, 2014;Sas et al, 2014;Tanaka et al, 2015;Wu and Li, 2019), CAH (Ning et al, 2008;Völkl et al, 2011;Kulshreshtha et al, 2012) and 46,XY (Pertzelan et al, 1982;Nihoul-Fékété et al, 2006). Among women with TS, 36% had spontaneous breast development (Tanaka et al, 2015).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Mental health of a large group of adults with disorders of sex development in six European countries

Vries¹,

Roehle²,

Marshall³

et al. 2020

ESPE

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Compared with normative data, women with DSD reached lower Tanner stages and reported less breast satisfaction. WHAT IS KNOWN ALREADY: Women with DSD may have chromosomal and hormonal variations that can impact typical breast development. While much emphasis is placed on genital development in this group, little is known about breast development, satisfaction and their association. STUDY DESIGN, SIZE, DURATION: Data collection was part of the cross-sectional European multicenter dsd-LIFE study. Fourteen recruiting sites included 1040 participants between February 2014 and September 2015. PARTICIPANTS/MATERIALS, SETTING, METHODS: A total of 695 female-identifying participants were included (Turner n = 332, 46,XY DSD n = 141 and congenital adrenal hyperplasia n = 222), with a median age of 28 years. Clinical (i.e. history of hormone and surgical treatments, Tanner breast examination) and patient-reported (i.e. breast satisfaction, relationship status, sexual satisfaction and experienced femininity) data was collected by independent trained research staff. The relationship between breast development, satisfaction and femininity was assessed. Control data on breast development and satisfaction in women without DSD was retrieved from the literature. MAIN RESULTS AND THE ROLE OF CHANCE: Of the 695 participants, 61% had received estrogen replacement and 51% puberty induction therapy, whereas 2% had received breast augmentation surgery. Approximately 65% of participants had reached Tanner breast stage 5, which is substantially less than the general population (90%). Breast satisfaction was lower than normative data as well (P < 0.001, Cohen's d = 0.45). Breast size and breast satisfaction were associated with feelings of femininity. LIMITATIONS, REASONS FOR CAUTION: Limitations include the sample representativeness (e.g. regarding the clinical heterogeneity) and the limited in-depth knowledge on (prior) hormonal regimens. Furthermore, no (matched) control data was collected as part of this study. WIDER IMPLICATIONS OF THE FINDINGS: In order to support the psychosexual well-being of women with DSD, enhancing breast development by sufficient hormone replacement and possible augmentation surgery is advocated. The scope of DSD management should be beyond genital development only and consider breasts as well.

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Section: Factors Associated With Breast Satisfactionsupporting

confidence: 77%

Section: Introductionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Mental health of a large group of adults with disorders of sex development in six European countries

Vries¹,

Roehle²,

Marshall³

et al. 2020

ESPE

View full text Add to dashboard Cite

show abstract

“…Secondary sexual characteristic growths were found to be better in mosaic karyotype [17]. Estrogen hormone plays an important role in breasts development.…”

Section: Resultsmentioning

confidence: 96%

Correlation between Karyotype, Puberty Stage and Volume of Reproductive Organs in Turner Syndrome: The First Transrectal Sonography Study in Indonesia

Novina¹,

Sumapraja²,

Gunardi³

et al. 2019

Preprint

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Background: Turner syndrome is characterized by the absence of part of or the entire X chromosome in a woman, resulting in short stature, gonadal dysgenesis, and congenital anomaly. Based on karyotype, Turner syndrome is categorized as classical (45XO) and mosaic. The aim of this study is to evaluate the correlation of the karyotype with the puberty stage, volume of the uterus, and ovary in Turner syndrome’s adolescent with estrogen therapy. Methods: Analytic correlative cross-sectional study was done in Pediatric Endocrinology Outpatient Clinic at Cipto Mangunkusumo National Hospital since July to December 2018. Pubertal staging based on Tanner stage, uterine, and ovary volume were measured by transrectal sonography. Results: Of 21 study subjects, 8 were having classical karyotype and 13 were having mosaic karyotype in 12–21-year-old subjects. There was a significant correlation between karyotype and Tanner M stage (mammae stage) (p = 0.035). Breasts development in Turner syndrome with mosaic karyotype showed better development compared to classic karyotype. No significant correlation was found between karyotype and uterine and ovary volume in sonography transrectally. Conclusion: Karyotype correlates to mammae stage of Tanner but not in uterine and ovary volume in adolescents with Turner syndrome who underwent estrogen therapy.

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“…As the remaining 6 patients underwent karyotype testing at other institutions, the details were not available. The chromosomal karyotype was classified into four groups: monosomy X, structural abnormality of the X chromosome, mosaic with structural abnormality and mosaic without structural abnormality according to the previous study 11 . This study was approved by the institutional review board of Osaka Police Hospital (Approved No.…”

Section: Methodsmentioning

confidence: 99%

Subsequent menstrual disorder after spontaneous menarche in Turner syndrome

Komura

Mabuchi

Sawada

et al. 2021

Clinical Endocrinology

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Objective Turner syndrome (TS) is a congenital disease characterized by delayed puberty, ovarian dysgenesis and short stature. Although most patients are diagnosed with primary amenorrhea, approximately 15‐20% of patients with TS are reported to have spontaneous menarche. However, little is known about their menstruation status after spontaneous menarche. In the current study, we investigated the menstrual abnormalities after spontaneous menarche in TS patients. Design Retrospective study. Patients This study included TS patients with spontaneous menarche at Osaka Police Hospital or Komura Women’s Clinic between April 2015 and December 2019. Measurements Data regarding the age of menarche, menstruation status and chromosomal karyotype were collected and retrospectively analyzed. Results Of 172 TS patients, 32 with spontaneous menarche were identified. The median age of menarche was 12 years old. Premature ovarian insufficiency (POI) after menarche was observed in 12 patients (37.5%) and the median age at menopause was 20 years old. The average period from spontaneous menarche to menopause in these patients was 5.1 years. Five patients (15.6%) had irregular menstruation and 15 (46.9%) had regular menstruation. When examined according to the structural abnormality of the X chromosome, all patients with structural abnormality of the X chromosome were diagnosed with POI after spontaneous menarche, and none with mosaic without structural abnormality were diagnosed with POI. Conclusion Approximately one‐third of TS patients with spontaneous menarche were diagnosed with POI after menarche for an average of 5.1 years. Counseling is required for TS patients and their parents, including information about menstrual abnormalities or fertility preservation.

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Karyotype classification, clinical manifestations and outcome in 124 Turner syndrome patients in China

Cited by 17 publications

References 9 publications

Mental health of a large group of adults with disorders of sex development in six European countries

Mental health of a large group of adults with disorders of sex development in six European countries

Correlation between Karyotype, Puberty Stage and Volume of Reproductive Organs in Turner Syndrome: The First Transrectal Sonography Study in Indonesia

Subsequent menstrual disorder after spontaneous menarche in Turner syndrome

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