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Background: Most girls with Turner syndrome (TS) require pubertal induction with estrogen, followed by long term replacement. However, no adequately powered prospective studies comparing transdermal with oral 17β-estradiol administration exist. This reflects the difficulty of securing funding to study a rare condition with relatively low morbidity/mortality when competing against conditions such as cancer and vascular disease. Protocol Consensus: The TS Working Group of the European Society for Paediatric Endocrinology (ESPE) has agreed to both a 3-year oral and a 3-year transdermal regimen for pubertal induction. Prerequisites include suitable 17β-estradiol tablets and matrix patches to allow the delivery of incremental doses based on body weight. Study Proposal: An international prospective cohort study with single centre analysis is proposed in which clinicians and families are invited to choose either of the agreed regimens, usually starting at 11 years. We hypothesise that pubertal induction with transdermal estradiol will result in better outcomes for some key parameters. The primary outcome measure chosen is height gain during the induction period. Analysis: Assessment of the demographics and drop-out rates of patients choosing either oral or transdermal preparations; and appropriate analysis of outcomes including pubertal height gain, final height, liver enzyme and lipid profile, adherence/acceptability, cardiovascular health, including systolic and diastolic blood pressure and aortic root diameter and bone health. Conclusion: The proposed model of prospective data collection according to internationally agreed protocols aims to break the current impasse in obtaining evidence-based management for TS and could be applied to other rare paediatric endocrine conditions. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background/Aims: The aim of this study was to assess whether circulating anti-Müllerian hormone (AMH) levels in daughters of women with polycystic ovary syndrome (PCOSd) correspond with clinical and biochemical features of hyperandrogenism, polycystic ovary morphology and menstrual cycle disturbances. Methods: Menstrual cycle disturbances, hirsutism, acne and ultrasonographic ovarian morphology were assessed in 75 girls aged 13-18 years (35 PCOSd and 40 daughters of healthy women). Serum gonadotropins, androgens, sex hormone-binding globulin and plasma AMH were measured in a fasting state, and the free androgen index was calculated. Results: A significant correlation between the AMH level and mean ovary volume was found (r = 0.36; p < 0.01). AMH levels were not related to hir-sutism, acne and polycystic ovary morphology. Significantly higher AMH levels were found only in PCOSd with irregular menstruation or secondary amenorrhea. The results of logistic regression analysis showed that in that group for each 1-ng/ml increase in the AMH level, the odds ratio of the PCOS occurrence in the future was increased 1.27 times (95% CI: 1.09-1.47; p < 0.01). Conclusions: A higher AMH level in PCOSd is associated with menstrual cycle disturbances and larger ovarian volume but not with clinical and biochemical features of hyperandrogenism. Thus, the risk for PCOS development among genetically predisposed girls may be related to increased AMH levels. [ABSTRACT FROM AUTHOR]

For Turner syndrome (TS) patients, smooth transition from pediatric to adult health care is a critical point. The study objective was to evaluate the medical follow-up of young women with TS in one clinical center 3 years after the latest guidelines had been introduced by the TS Study Group. A questionnaire study was performed in 59 TS adults selected from a database of 117 patients. Twenty-two of them, aged 23.0 ± 2.8 years, consented to participate. Nineteen responders (86.4%) were followed up by general practitioners who were not aware of the TS diagnosis in 14 (63.6%) cases. Eight (36.4%) were seen regularly by the relevant specialists. Adequate medical assessment varied from 5% (celiac serology) to 74% (gynecology assessment) and 82% (ear-nose-throat) of participants. None of the patients had undergone all of the recommended investigations according to recommendation. Height deficiency, body mass index, age at TS diagnosis and level of education did not correlate with the number of assessments performed (p = 0.687, p = 0.810, p = 0.641, and p = 0.568, respectively). Three years after the introduction of the current guidelines, medical follow-up in the transition phase is still inadequate. Improvement in transitional health care is warranted through better patient education, referring to physicians caring for adults with TS and better cooperation with general practitioners with wider popularization of the TS recommendations among them. Copyright © 2012 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective: Clinical studies suggest that the thyroid autoantibodies and/or hypothyroidism are not present in Turner's syndrome (TS) patients before the age of 8 years and are more frequent in patients with the X isochromosome. The aim of the study was to analyze the dynamics of thyroid dysfunction in girls with TS. Design: 86 TS patients with a median age of 10.6 years were followed for 4.6 ± 3.0 years. Outcomes: The prevalence of thyroid abnormalities increased from 25.5 to 50% during the follow-up. Finally, 31 (36%) patients had positive thyroid autoantibodies and 27 (31.4%) had subclinical hypothyroidism. Hashimoto's thyroiditis was diagnosed in 15 patients. Median age of developing thyroid antibodies and subclinical hypothyroidism was 14.1 and 14.8 years, respectively. The youngest hypothyroid patient was 1.8 years old and the youngest girl with positive anti-thyroid antibodies was 5.5 years old. Autoantibodies appeared mainly after the age of 13. The risk of developing subclinical hypothyroidism was greatest between 12 and 14 years of age. The prevalence of thyroid abnormalities was not related to the karyotype. Conclusions: Thyroid autoimmunity and dysfunctions in TS may start early, their prevalence increases with age, independently of karyotype and without any clinical symptoms and signs. Copyright © 2011 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]