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Reduced bone mineral density (BMD) and increased risk of fractures are present in many women with Turner syndrome (TS).
Examine longitudinal changes in BMD in TS and relate changes to biochemical parameters.
Prospective, pragmatic, and observational study. Examinations at baseline and follow-up (5.9+/-0.7 years).
Tertiary hospital.
Fifty-four women...
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Premature ovarian insufficiency leads to through infertility and estrogen deficiency. Optimal management encompasses estrogen replacement therapy. Long-term outcome of women with POI is not known. We design a study to evaluate the medical care, hormone replacement therapy compliance and bone mineral density (BMD) in POI women with at least a five-y...
Low bone mineral density (BMD) measured by dual-energy X-ray absorptiometry (DXA) has been described in Turner's syndrome (TS). One of the error factors of DXA is short stature, a common finding in TS patients. Aimed to evaluate the influence of a low stature on BMD, we compared the two-dimensional (2D) or conventional BMD (cBMD) with three-dimensi...
Citations
... Nevertheless, adequate HRT combined with a healthy lifestyle has been shown to maintain BMD. 125 A recent meta-analysis and systematic review included randomised controlled trial (RCT) and cohort studies in women aged under 40 years with TS; 120 25 studies for qualitative and nine for quantitative meta-analysis. The analysis was limited by variable duration, type of HRT, and age of women; ...
Female hypogonadism (FH) is a relatively common endocrine disorder in women of premenopausal age, but there are significant uncertainties and wide variation in its management. Most current guidelines are monospecialty and only address premature ovarian insufficiency (POI); some allude to management in very brief and general terms, and most rely upon the extrapolation of evidence from the studies relating to physiological estrogen deficiency in postmenopausal women. The Society for Endocrinology commissioned new guidance to provide all care providers with a multidisciplinary perspective on managing patients with all forms of FH. It has been compiled using expertise from Endocrinology, Primary Care, Gynaecology and Reproductive Health practices, with contributions from expert patients and a patient support group, to help clinicians best manage FH resulting from both POI and hypothalamo‐pituitary disorders, whether organic or functional.
... 15 Long term results are better when MHT is prescribed for patients with chromosomal diseases. 16 Less than half of the practicing doctors of our group prescribed MHT for prevention of fractures. Osteoporosis and the rate of bone loss increases significantly in menopausal women ultimately increasing their risk to bone fractures. ...
Objectives:
To assess the prescribing practice of obstetricians and gynecologists (OBGYN) regarding Menopausal Hormone therapy (MHT) for menopausal females and assess the knowledge regarding indications for prescribing MHT and identify the barriers to HRT.
Methods:
This was a cross-sectional study conducted from May 2021 to December 2021. The participants were OBGYN experts (MCPS, FCPS, MRCOG) and senior experts. The tool was formulated after looking at contemporary literature and then validated by experts for face, content and construct validity. It was piloted and hence fourth given to study participants after approval by IRB of JSMU. Data was analyzed by SPSS version 22. Mean and Standard Deviation of categories in Likert scale were calculated.
Results:
Majority of the participant gynecologists prescribed HRT for Hot flushes and vaginal dryness having the highest mean scores nearing 4 on a Likert scale of (1-5). The prescription for other menopausal symptoms was observed to be less. The highest score for category of women in whom hormone therapy is specifically justified was "Premature ovarian failure" (4.37) followed by "Hysterectomy with bilateral oophorectomy before the age of 50" (4.23).
Conclusion:
Pakistani gynecologists are more cautious in their management strategies concerning MHT. Most of the gynecologists showed good and up to date information while prescribing MHT however knowledge for preventing fractures, alleviating anxiety/depression and weight gain was less among the gynecologist of Pakistan. We recommend refresher courses and online webinars for updated information on menopause and its management.
... In TS, estradiol secretion is low during childhood until the start of induced puberty. This points toward the importance of optimized HRT to achieve peak BMD in TS, maintain this, and ultimately prevent osteoporosis (372)(373)(374)(375). It may also suggest that the very early start of estrogen replacement even in early childhood with very low doses of estradiol would be beneficial (177). ...
Turner syndrome is a condition in females missing the second sex chromosome (45,X) or parts thereof. It is considered a rare genetic condition and is associated with a wide range of clinical stigmata, such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations, endocrine disorders, including a range of autoimmune conditions and type 2 diabetes and neurocognitive deficits. Morbidity and mortality is clearly increased compared with the general population and the average age at diagnosis is quite delayed. During recent years it has become clear that a multidisciplinary approach is necessary towards the patient with Turner syndrome. A number of clinical advances has been implemented, and these are reviewed. Our understanding of the genomic architecture of Turner syndrome is advancing rapidly, and these latest developments are reviewed and discussed. Several candidate genes, genomic pathways and mechanisms, including an altered transcriptome and epigenome are also presented.
... 325 It is important to keep in mind that a considerable part of females with TS are diagnosed late, 324 and thus women with TS diagnosed late will often present with osteopenia or frank osteoporosis. 339 Appropriate hormone replacement therapy, even when instituted relatively late in life, can either partly or completely correct a bone mineral deficit 340 (Fig. 17.20). p0875 Hearing is a very frequent problem in any given TS cohort, often starting already in childhood. ...
... well as certain other medical specialties, dependent on the morbidity profile of the individual patient. Appropriate female HRT is the mainstay of treatment to address the POI in adult life and has numerous beneficial effects on blood pressure, 322 lipid composition, 330 bone, 340,342 uterine size, 343 possibly neurocognitive function, 344-347 sexuality, 346 and quality of life. 347 One can get HRT in the form of oral tablets, transdermal patches, and as injectable depot formulations. ...
Turner syndrome (TS) is a disorder of phenotypic females who have one intact X chromosome and complete or partial absence of their second sex chromosome. This results in a constellation of features that includes—but is not limited to: lymphedema, cardiac anomalies, short stature, primary ovarian failure, and neurocognitive difficulties, as the most important ones. Traditionally, TS implied the presence of physical characteristics, such as a typical facial appearance and neck webbing. However, the clinical manifestations of TS should be viewed more broadly to include other features, such as growth failure, pubertal delay, sensorineural hearing loss, and specific cardiovascular, liver, and renal anomalies, as well as a particular neurodevelopmental profile. Optimizing healthcare delivery is important to enable TS individuals to achieve their full potential. This chapter reviews the current diagnostic, genetic, and management recommendations for individuals with TS, including screening recommendations for other comorbidities, based on recently developed international consensus guidelines.
... Estrogen replacement therapy (ERT) is a pivotal strategy for improving BMD in women with TS because chronic estrogen deficiency is one of the major reasons for bone loss in this disorder. Several studies indicated that ERT contributed to increasing/maintaining lumbar spine BMD [11][12][13], and that a delay in commencing ERT in primary amenorrhea was associated with lower BMD [6,[14][15][16][17]. Lumbar spine BMD is an important parameter because it is independently associated with the history and incidence of fractures and is a predictor of fracture risk in women with TS [16] as it is in the general female population [18]. ...
... Furthermore, Kaufmann therapy increased BMD in women with TS in the present study. A similar effect was also reported by previous studies [11][12][13]. However, the age at which the BMD values start to decrease in TS remains unclear. ...
Osteoporosis is one of the clinical features of women with Turner syndrome (TS). The reasons for low bone mineral density (BMD) and increased bone fragility are multifactorial, including estrogen deficiency, X-chromosome abnormalities, and environmental factors. Few, large-scale studies on bone mineral density in either adolescents or adults with TS have been done in Japan. The goal of the present study was to investigate spinal BMD in women with TS, assess its relationship with clinical parameters, especially estrogen replacement therapy, and investigate its longitudinal changes. The spinal BMD and clinical data of 149 Japanese women with TS aged 15 to 49 years who were followed at the four participating hospitals were retrospectively analyzed. The BMD Z-scores of the women with TS ranged from –5.30 to +1.89. Women with TS aged 15–39 years had lower BMD than healthy Japanese women (p < 0.01) while women with spontaneous menstruation had a significantly higher BMD Z-score than those without spontaneous menstruation (–0.73 ± 1.11 vs. –1.67 ± 1.18, p < 0.01). In women without spontaneous menstruation, BMD Z-scores correlated with the duration of their estrogen therapy (r = 0.167, p < 0.01). Women aged 15–39 years with TS had low BMD, which was associated with primary amenorrhea and short estrogen replacement therapy duration.
... Moreover, girls with spontaneous menstruation have normal BMD compared with those with absent menarche, in whom BMD is decreased 87 . Therefore, proper and timely hor mone replacement therapy can maintain BMD in indi viduals with Turner syndrome and ultimately prevent osteoporosis [88][89][90] (Fig. 2). ...
Numerous important advances have been noted during recent years. These advances cover all specialty fields involved in the care of girls and women with TS, including (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. Here, we will present the most important new advances concerning endocrine and metabolic care of Turner syndrome.
... This study confirms a high prevalence of osteoporosis and prescriptions of bisphosphonates in women with TS (44,45). Deficiency of estradiol secretion plays a fundamental role in not achieving peak bone mass and subsequent appropriate bone mineralization with increased risk of fractures (9,(45)(46)(47)(48)(49)(50). Interestingly, we found a decreased risk of osteoporotic fractures and a trend toward lower use of bisphosphonates among HRT users. ...
Context
The long-term effects of female hormone replacement therapy (HRT) in Turner syndrome (TS) are unknown.
Objective
To examine morbidity, mortality and medicinal use in TS and the impact of HRT in 45,X women.
Design and setting
National cohort study, following all TS individuals ever diagnosed in Denmark from 1977 to 2014.
Patients and methods
In the Danish Cytogenetic Central Registry, we identified 1,156 females diagnosed with TS during 1960-2014, and subsequently, Statistics Denmark randomly identified 115,577 age-matched female controls. TS women and their matched controls were linked with person-level data from the National Patient Registry and the Medication Statistics Registry, and they were compared concerning mortality, hospitalizations, and medical prescriptions. Among 329 45,X women, 44 had never been HRT treated, and 285 had been treated at some point. HRT treated women were compared with untreated concerning mortality, hospitalizations, and medical prescriptions.
Results
Endocrine and cardiovascular mortality and morbidity were significantly increased in TS compared with the matched controls. Comparing HRT treated with non-treated 45,X women, we found a similar mortality; Hazard Ratio 0.83 (95% CI 0.38-1.79). Among the HRT treated 45,X women, we found a significantly lower use of antihypertensives, antidiabetics, and thyroid hormones, and significantly reduced hospitalization rates for stroke and osteoporotic fractures.
Conclusion
Women with TS have an increased overall mortality and morbidity. HRT seems to have a beneficial effect on endocrine conditions, hypertension, and stroke in women with 45,X karyotype, with no clear impact on mortality.
... However, several studies found that the BMD of TS patients with HRT were still very low (7,8). One study indicated that lumbar spine BMD was increased after HRT, while other BMD parameters (e.g., hip BMD, forearm BMD and ultra-distal BMD) remained unchanged (9). ...
A longitudinal observational study was performed comparing BMD and body composition in Turner syndrome girls before and after 1 year of HRT treatment. Whole body BMD, femur neck BMD, total hip BMD, and lean mass were significantly increased, but there was no difference in fat mass, and lumbar spine BMD. Purpose: Low bone mineral density (BMD) is one of the major health problems in Turner syndrome (TS) patients, and a certain percentage of TS girls are treated with hormone replacement therapy (HRT) to improve their BMD, among other health benefits. While it is generally accepted that HRT improves BMD and body composition in adolescent and young adult TS patients, studies of HRT in Chinese TS patients are limited. Methods: To investigate the effects of HRT in Chinese TS girls, we performed a longitudinal observational study which compared measurement of BMD and body composition by dual energy X-ray absorptiometry (DXA) using a Lunar DXA densitometer in 20 Chinese adolescent and young adult TS patients (average age = 18) before and after 1 year of HRT treatment. Results: Whole body BMD (0.85 vs. 0.87 g/cm2, P < 0.001), femur neck BMD (0.6 vs. 0.62 g/cm2, P = 0.02), total hip BMD (0.68 vs. 0.71 g/cm2, P = 0.003) and whole body lean mass (30.39 vs. 31.66 kg, P = 0.002) were significantly increased in these patients after 1 year HRT treatment, but there was no difference in whole body fat mass, android:gynoid ratio and lumbar spine BMD. Conclusions: In summary, our study found that HRT was an effective way to increase whole body BMD, femur neck BMD, total hip BMD and whole body lean mass in Chinese TS girls, with no effect on whole body fat mass, android:gynoid ratio or lumbar spine BMD.
... Moreover, girls with spontaneous menstruation have normal BMD compared with those with absent menarche, in whom BMD is decreased 87 . Therefore, proper and timely hor mone replacement therapy can maintain BMD in indi viduals with Turner syndrome and ultimately prevent osteoporosis [88][89][90] (Fig. 2). ...
Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, infertility, congenital malformations of the heart, endocrine disorders such as type 1 and type 2 diabetes mellitus, osteoporosis and autoimmune disorders. Morbidity and mortality are increased in women with Turner syndrome compared with the general population and the involvement of multiple organs through all stages of life necessitates a multidisciplinary approach to care. Despite an often conspicuous phenotype, the diagnostic delay can be substantial and the average age at diagnosis is around 15 years of age. However, numerous important clinical advances have been achieved, covering all specialty fields involved in the care of girls and women with Turner syndrome. Here, we present an updated Review of Turner syndrome, covering advances in genetic and genomic mechanisms of disease, associated disorders and multidisciplinary approaches to patient management, including growth hormone therapy and hormone replacement therapy.
... Several studies have noted a low level of vitamin D in the serum of patients with TS, and this may lead to lower bone mineral density (27,49). Therefore, vitamin D supplementation and an active lifestyle including weight-bearing activities and regular sports are of great benefit to the health of bone in patients with TS (50). Forms of treatment are listed in Table 3. ...
... (1,37) (43,44) (45,46) (27,(48)(49)(50) ...
Turner syndrome (TS), also known as Congenital ovarian hypoplasia syndrome, occurs when the X chromosome is partially or completely missing in females. Its main clinical manifestations include growth disorders, reproductive system abnormalities, cardiovascular abnormalities, and autoimmune diseases. TS is highly prevalent in China. Timely diagnosis is crucial, and non-invasive prenatal DNA testing can identify TS and other diseases. Treatment of TS mainly involves administration of growth hormone combined with very low doses of estrogen to increase the patient’s height. This article describes the incidence, complications, diagnosis, and treatment of TS.
