TRANSITION IN ENDOCRINOLOGY: Treatment of Turner's syndrome during transition

Gawlik, Aneta; Małecka-Tendera, Ewa

doi:10.1530/eje-13-0900

Cited by 46 publications

(46 citation statements)

References 122 publications

(193 reference statements)

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“…Successful navigation from paediatric to adult care is particularly difficult in these patients who need life-long follow-up and screening. Comprehensive summaries of issues on medical care in patients with TS have been published that provide helpful checklists for use in clinical practice (16, 17, 18, 19). One of the main goals during adolescence is to mimic physiological puberty, so the current recommendation is to begin oestrogen therapy around the ages of 11–12 years in the presence of suspected ovarian failure.…”

Section: Resultsmentioning

confidence: 99%

Bridging the gap: metabolic and endocrine care of patients during transition

Hokken-Koelega

Lely²,

Hauffa

et al. 2016

Endocrine Connections

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ObjectiveSeamless transition of endocrine patients from the paediatric to adult setting is still suboptimal, especially in patients with complex disorders, i.e., small for gestational age, Turner or Prader–Willi syndromes; Childhood Cancer Survivors, and those with childhood-onset growth hormone deficiency.MethodsAn expert panel meeting comprised of European paediatric and adult endocrinologists was convened to explore the current gaps in managing the healthcare of patients with endocrine diseases during transition from paediatric to adult care settings.ResultsWhile a consensus was reached that a team approach is best, discussions revealed that a ‘one size fits all’ model for transition is largely unsuccessful in these patients. They need more tailored care during adolescence to prevent complications like failure to achieve target adult height, reduced bone mineral density, morbid obesity, metabolic perturbations (obesity and body composition), inappropriate/inadequate puberty, compromised fertility, diminished quality of life and failure to adapt to the demands of adult life. Sometimes it is difficult for young people to detach emotionally from their paediatric endocrinologist and/or the abrupt change from an environment of parental responsibility to one of autonomy. Discussions about impending transition and healthcare autonomy should begin in early adolescence and continue throughout young adulthood to ensure seamless continuum of care and optimal treatment outcomes.ConclusionsEven amongst a group of healthcare professionals with a great interest in improving transition services for patients with endocrine diseases, there is still much work to be done to improve the quality of healthcare for transition patients.

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Section: Resultsmentioning

confidence: 99%

Bridging the gap: metabolic and endocrine care of patients during transition

Hokken-Koelega

Lely²,

Hauffa

et al. 2016

Endocrine Connections

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“…Although the critical importance of pediatric endocrinologists in providing their TS patients with a staged and seamless transition to ensure uninterrupted transition to adult care has been recognized for over a decade (327), widespread adoption of this best practice remains elusive. As a result, many young adult women with TS are lost to follow-up and do not receive recommended age-appropriate screening, leading to reports of underrecognition and treatment of comorbidities and suboptimal health outcomes (328,329,330).…”

Section: Transition From Pediatric To Adult Carementioning

confidence: 99%

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Gravholt¹,

Andersen

Conway

et al. 2017

European Journal of Endocrinology

908

1,259

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Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association, the Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society of Endocrinology, the Pediatric Endocrine Society, the European Society for Paediatric Endocrinology, the European Society of Human Reproduction and Embryology and Summary of recommendationsThe recommendations (R) are worded as recommend (strong recommendation) and suggest (weak recommendation). We formally graded only the evidence underlying recommendations for therapeutic choices. The quality of evidence behind the recommendations is classified as very low (⨁◯◯◯), low (⨁⨁◯◯), moderate (⨁⨁⨁◯) and strong (⨁⨁⨁⨁). See further section 'Summary of methods used for guideline development'. Diagnosis and geneticsR 1.1. We recommend considering a diagnosis of TS in phenotypic females with a karyotype containing one X chromosome and complete or partial absence of the second sex chromosome, associated with one or more typical clinical manifestations of TS (⨁⨁⨁⨁). R 1.2. We recommend against considering a diagnosis of TS in females with one X chromosome and a deletion distal to Xq24 on the other X chromosome, and in women over the age of 50 years with less than 5% 45,X mosaicism (⨁⨁◯◯). R 1.3. We suggest that the new general surveillance management guideline applies to TS patients with any karyotype (⨁⨁◯◯). R 1.4. We recommend to consider testing for Turner syndrome (TS) in a female with typical signs (Table 2) (⨁⨁⨁⨁). R 1.5. We ...

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“…Thus approximately 90% of TS girls and women require or will require oestrogen replacement therapy to initiate, progress, or maintain pubertal development. It is recommended that women with TS should receive oestrogen and progestin replacement, known to have long-term effects on puberty, fertility, metabolism, and psychological functioning [4,5]. However, patient compliance with treatment is often variable, especially during late adolescence, when transition to adult care is being planned [6].…”

Section: Prediction Of Spontaneous Puberty Inmentioning

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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TRANSITION IN ENDOCRINOLOGY: Treatment of Turner's syndrome during transition

Cited by 46 publications

References 122 publications

Bridging the gap: metabolic and endocrine care of patients during transition

Bridging the gap: metabolic and endocrine care of patients during transition

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

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

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