Serum FSH level below 10 mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome

Aso, Keiko; Koto, Shinobu; Higuchi, Asako; Ariyasu, Daisuke; Izawa, Masako; Igaki, Junko; Hasegawa, Yukihiro

doi:10.1507/endocrj.k10e-092

Cited by 23 publications

(32 citation statements)

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“…FSH concentration was ascertained to be greater than 10 mIU/mL before or at the initiation of EE 2 . FSH 10 mIU/mL or higher is a hallmark of the future absence of a spontaneous and regular menstrual cycle in TS as we have already reported [12].…”

Section: Group E (Designed Group Treated With Ultra-low Dose Ee 2 )mentioning

confidence: 50%

Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD

et al. 2017

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Section: Group E (Designed Group Treated With Ultra-low Dose Ee 2 )mentioning

confidence: 50%

Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD

et al. 2017

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“…Although some researchers reported normal or significantly lower prepubertal gonadotropin levels in patients with spontaneous menarche than in patients with induced menarche [2,18], a concrete cut-off level has as yet to be established. Aso et al [19] suggested an FSH level <10 mIU/mL at 12 years as an index of spontaneous and cyclical menstruation in TS. We found a cut-off level for serum FSH of 6.7 mIU/mL at 6-10 years to be most predictive of spontaneous menarche, with a sensitivity and specificity of 62 and 66%, respectively.…”

Section: Discussionmentioning

confidence: 99%

Prediction of Spontaneous Puberty in Turner Syndrome Based on Mid-Childhood Gonadotropin Concentrations, Karyotype, and Ovary Visualization: A Longitudinal Study

et al. 2017

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Aims: To investigate whether karyotype, mid-childhood (6–10 years) follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels, and ultrasound ovary visualization results can be used as indicators of spontaneous puberty in Turner syndrome (TS). Methods: The analysis was based on clinical and biochemical data from 110 TS girls aged >13 years at the end of the study (1,140 visits between 1996 and 2015). The study population was divided according to karyotype: 45,X and non-45,X. Results: The mean age ± standard deviation at diagnosis was 10.7 ± 4.0 years, and the follow-up duration was 5.9 ± 3.3 years. Spontaneous puberty was confirmed in 48% and menarche in 20% of the subjects, less frequently in 45,X girls. The mean age at Tanner stage B2 was 13.7 ± 2.4 years and that at menarche 14.2 ± 1.7 years, regardless of the karyotype. The median FSH level at 6–10 years was 8.16 IU/L, which was significantly lower than <6 years and >10 years. The median LH level at 6–10 years was 0.35 IU/L, which was lower than >10 years. The chance of spontaneous menarche was decreased in girls with FSH ≥6.7 IU/L between 6 and 10 years. Conclusions: Although spontaneous puberty and menarche occur more frequently in non-45,X girls, the karyotype cannot be used to predict them. However, the chance of spontaneous menarche can be predicted based on gonadotropin cut-off values. There was no correlation between ultrasound ovary visualization results and spontaneous puberty.

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“…Nevertheless, spontaneous puberty has been observed in 15–20% of 45,X patients (Pasquino et al , 1997; Gracia Bouthelier et al , 2004; Martín Campagne and Roa Llamazares, 2008) and in 32% of mosaic patients, inversely correlating with the severity of chromosomal anomalies at conventional karyotype (Pasquino et al , 1997). Consistently, subjects with 45,X frequently have serum follicle-stimulating hormone (FSH) levels already in the post-menopausal range during infancy, whereas FSH levels are generally normal in patients of the same age with mosaic Turner syndrome (Fechner et al , 2006; Aso et al , 2010). Furthermore, a biochemical parameter of ovarian reserve, the antimüllerian hormone is generally low in infants with 45,X or structural abnormalities of the second X, but similar to controls in mosaic Turner patients (Kallio et al , 2012).…”

Section: Introductionmentioning

confidence: 97%

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome

et al. 2013

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STUDY QUESTIONWhat is the burden of X chromosome mosaicism in the occurrence of spontaneous menarche (SM) in Turner syndrome (TS)?SUMMARY ANSWERSM was significantly associated with X chromosome mosaicism in the TS patients; a mosaicism with around 10% euploid cell line may predict spontaneous pubertal development when determined by molecular-cytogenetic techniques on uncultivated tissues.WHAT IS KNOWN ALREADYSpontaneous puberty can be observed in a minority of patients with TS, more frequently, but not exclusively, in those with a high level of 46,XX/45,X mosaicism at standard karyotype. The genetic mechanisms contributing to ovarian function in TS patients are still not determined. However, submicroscopic X-linked and autosomal copy number variations (CNVs) have recently emerged as an important genetic risk category for premature ovarian insufficiency and may be involved in modulating the TS ovarian phenotype.STUDY DESIGN, SIZE, DURATIONA group of 40 patients with a diagnosis of TS at conventional karyotyping participated in the study; 6 patients had SM and 34 patients had primary amenorrhoea (PA). All clinical data and the patients’ DNA samples were collected over the years at a single paediatric clinic.PARTICIPANTS/MATERIALS, SETTING, METHODSThe patients' samples were used to perform both genetic (Copy Number Assay) and molecular-cytogenetic (array-CGH and iFISH, interphase-FISH) analyses in order to evaluate the X chromosome mosaicism rate and to detect possible rare CNVs of genes with a known or predicted role in female fertility.MAIN RESULTS AND THE ROLE OF CHANCEAll TS patients showed variable percentages of the 46,XX lineage, but these percentages were higher in the SM group (P < 0.01). A mosaicism around 10% for the euploid cell line may predict spontaneous pubertal development when determined by molecular-cytogenetic techniques performed in uncultivated tissues. A few CNVs involving autosomal and X-linked ovary-related loci were identified by array-CGH analysis and confirmed by real-time quantitative PCR, including a BMP15 gene duplication at Xp11.22, a deletion interrupting the PAPPA gene at 9q33.1, and an intragenic duplication involving the PDE8A gene at 15q25.3.LIMITATIONS, REASONS FOR CAUTIONThis is a pilot study on a relatively small sample size and confirmation in larger TS cohorts may be required. The ovarian tissue could not be studied in any patients and in a subgroup of patients, the mosaicism was estimated in tissues of different embryonic origin.WIDER IMPLICATIONS OF THE FINDINGSThe combined determination of X chromosome mosaicism by molecular and molecular-cytogenetic techniques may become useful for the prediction of SM in TS. The detection of CNVs in both X-linked and autosomal ovary-related genes further suggests gene dosage as a relevant mechanism contributing to the ovarian phenotype of TS patients. These CNVs may pinpoint novel candidates relevant to female fertility and generate further insights into the mechanisms contributing to ovarian function.STUDY FUNDING/COMPETING INTEREST(S)...

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Serum FSH level below 10 mIU/mL at twelve years old is an index of spontaneous and cyclical menstruation in Turner syndrome

Cited by 23 publications

References 13 publications

Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD

Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD

Prediction of Spontaneous Puberty in Turner Syndrome Based on Mid-Childhood Gonadotropin Concentrations, Karyotype, and Ovary Visualization: A Longitudinal Study

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome

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