Adult Turner Syndrome Patients Research Articles

THU212 Exploring The Experiences Of Adult Patients With Turner Syndrome At A Multidisciplinary Clinic

Abstract Disclosure: S. Shin: Grant Recipient; Self; Canadian Menopause Society Pfizer Research Award. L. Liang: None. C. Korenvain: None. L. McCarthy: None. I.C. Lega: None. Context: Turner syndrome (TS), a genetic condition affecting 1 in 2500 live female births, is associated with short stature, infertility, and premature menopause. Patients with TS are often followed by multidisciplinary clinics as children, but such care is often lacking in adulthood. A multidisciplinary clinic in Canada fills this gap, providing dual visits with an endocrinologist and gynecologist. There is a paucity of research exploring the experiences of adults with TS with respect to menopause and fertility, and the perceived impact of a multidisciplinary team. Objective: To explore the experiences of adults with TS regarding 1) reproductive health and menopause, and 2) interacting with a multidisciplinary team for the management of TS. Methods: Qualitative semi-structured interviews were conducted with 21 adult TS patients who attend a multidisciplinary TS clinic. Interviews were transcribed verbatim and coded by two independent researchers. A codebook was developed using an iterative process with input from the entire research team. Themes were generated using thematic analysis. Results: Twenty-one participants aged 20 to 65 were interviewed and five themes emerged from the data. 1) Participants’ differing feelings toward fertility status. Experience with fertility differed widely and was affected by the timing of diagnosis, how the diagnosis was communicated, and feelings toward having children. 2) Resiliency. Participants sought ways to adapt to living with TS, striving towards resilience by leaning on support from family and others with TS. 3) Involvement in one’s own care. Many participants were actively engaged in their care and sought support in learning more about their condition. 4) Desire for comprehensive health care. Many participants felt the multidisciplinary TS clinic was knowledgeable, convenient, and effective in managing their comorbidities. 5) Barriers to accessing health care. Participants identified challenges in accessing health care providers with TS expertise, in navigating the financial burden involved in comprehensive TS care, and in accessing inclusive care. Conclusion: Infertility appeared to have a variable impact on participants, ranging from those who felt it was an important aspect in developing their self-identity to those who felt it had little impact. Our research highlights the importance of using a tailored approach to providing fertility care. Participants desired to be actively involved in their own healthcare and for further access to educational resources. The participants greatly appreciated the care provided in the multidisciplinary care model and called for further capacity building in TS expertise among all healthcare providers. To improve the care of our TS patients, our findings support the demand/need for additional TS-specific clinics across the world. Presentation: Thursday, June 15, 2023

Challenges of Turner Syndrome Care in Adulthood: A Single Tertiary Center Experience

Background: Turner syndrome (TS) is a well-known genetic condition associated with increased morbidity and mortality in adult patients. Accordingly, comprehensive guidelines for TS follow-up across the lifespan have been developed. However, the data about their implementation in clinical practice need to be expanded. The present study aims to describe a cohort of adult East-European TS patients and to highlight pitfalls in long-term medical care. Methods: Data from 45 TS women (18–53 years) were included in the present retrospective study. Personal history of the patients along with anthropometric, cytogenetic, clinical, and laboratory parameters were collected. Results: The median age of initial diagnosis was 15 years varying between one and forty-nine years, with nearly one-third of patients being diagnosed as adults. TS women treated with growth hormone during childhood were, on average, 5 cm taller than the non-treated patients (150.00 [147.00–155.00] vs. 145.00 [140.25–150.75], p = 0.055). Patients on hormone replacement therapy (HRT) had higher high density lipoprotein (HDL) cholesterol levels (1.80 mmol/L [1.44–1.99] vs. 1.55 mmol/L [1.31–1.74], p = 0.041) and lower follicle-stimulating hormone levels (33.70 IU/L [23.65 – 65.07] vs. 70.00 IU/L [46.90–79.39], p = 0.008) compared to non-treated women. Adherence to HRT was suboptimal, with only 55.6% of hypogonadal women being on hormonal treatment. The presence of comorbidities was increased as expected, but the percentage of hypertensive TS patients was lower than usually reported (11.1%). Conclusions: Growth hormone and estrogen replacement therapy might exert different positive effects on TS patients. However, the late diagnosis of TS and low adherence to treatment could limit the beneficial hormonal effects. A tendency for a more accurate diagnosis of concomitant endocrine diseases compared to non-endocrine conditions in TS patients has been observed. These results support the need for dedicated multidisciplinary teams focused on TS diagnosis and adult follow-up worldwide.

Prevalence of Bicuspid Aortic Valve in Turner Syndrome Patients Receiving Cardiac MRI and CT: A Meta-Analysis

Turner syndrome (TS) is a rare disorder affecting 25–50 in 100000 female newborns. Bicuspid aortic valve (BAV) is assumed to be the most common congenital heart defect (CHD) in TS. In literature, reported BAV prevalence in TS ranges between 14% and 34%. The specific BAV prevalence in TS is still unknown. The aim of this study was to give a more precise estimation of BAV prevalence in TS by conducting a meta-analysis of TS-studies, which detected BAV by either cardiac magnetic resonance imaging (MRI) or cardiac computed tomography (CT). We searched PubMed, Cochrane Library, and Web of Science databases to collect observational studies including the prevalence of BAV identified by cardiac MRI or cardiac CT in TS patients up to June 4th, 2021. After screening for inclusion, data extraction, and quality assessment by two independent reviewers, the meta-analysis was performed with R 4.1.1 software. Results are shown as proportion and weighted mean difference with 95% confi- dence intervals (95% CI). In total, 11 studies involving 1177 patients were included. Pooled data showed that the prevalence of BAV in TS patients was 23.7% (95% CI: 21.3% to 26.1%). No high heterogeneity was found between the included studies. The current meta-analysis reveals that BAV can be detected in 23.7% of TS patients receiving cardiac MRI or cardiac CT. Therefore, BAV can be considered as the most common CHD in TS. Compared to TTE, cardiac MRI and cardiac CT might represent superior imaging modalities in BAV assessment of adult TS patients.

Effect of Hormone Replacement Therapy on Bone Mineral Density and Body Composition in Chinese Adolescent and Young Adult Turner Syndrome Patients.

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.

SAT-216 Prevalence of Endocrine, Gynecological and Other Medical Conditions Among Adult Women with Turner Syndrome

Background: In addition to short stature and ovarian insufficiency, women with Turner syndrome (TS) are at increased risk for multiple chronic health conditions, especially as they age. Reports describing the presence of comorbidities in older adult women with TS are limited. The objective of this study was to examine the prevalence of endocrine, gynecological, and other chronic medical conditions in a large cohort of adult TS patients. Methods: We performed a retrospective chart review of women with TS attending our adult TS clinic jointly run by gynecology and endocrinology at a university-based ambulatory hospital in Toronto, Canada. All patients had a diagnosis of TS based on karyotype testing and attended at least one clinic visit between February 1, 2015 and July 1, 2018. Data were collected from electronic medical records and included information on patients’ medical conditions, results of screening and blood tests and clinical measurements. Prevalence of diseases was determined for the whole cohort and stratified by age, <40 and ≥40 years. Statistical comparison between older and younger woman was done using the chi-square test. Results: We identified 122 adult women with TS. The mean age was 37.7 years (range: 19-68), and 40.2% were > 40 years of age at clinic visit. The mean age at diagnosis was 11.4 years. The mean height of was 146.8cm (+/-8.06) and the mean BMI was 27.1 (+/-6.24). The majority of patients (84.4%) were on hormone therapy, with the most common type being the oral contraceptive pill (47.6%). Regarding endocrine conditions, 24.5% had hypothyroidism, 16% had dysglycemia (either diabetes or pre-diabetes), and 27.9% had decreased bone mass (either osteoporosis, osteopenia or low bone density). The prevalence of hypothyroidism and dysglycemia were significantly higher among older women (hypothyroidism 36.7% age ≥ 40 vs. 17.8% age < 40, p=0.018; dysglycemia 24.5% age ≥ 40 vs. 5.5% age <40, p= 0.023). Gynecological conditions were identified in 35% of overall patients and were significantly higher among older women (42.8% age ≥ 40 vs. 13.7% age < 40, p=0.0028). With regards to other medical conditions, 41% had hearing impairment, 36.1% had cardiac abnormalities, 18.8% had renal abnormalities and 9% had celiac disease. Women > 40 years had a higher prevalence of hearing impairment (59.1% age > 40 years vs. 28.8% age < 40 years, p=0.0008), while the prevalence of cardiac, renal abnormalities and celiac disease was similar between age groups. Conclusions: The results of this study indicate a high prevalence of medical and gynecological conditions in women with TS, especially those > 40 years of age. This cohort is unique given the older age of our patients as well as the high burden of comorbid disease that we identified. Our study further underscores the importance of multidisciplinary adult TS clinics for monitoring and screening women with TS for comorbidities throughout adulthood.

Emotional state, cognitive functioning and quality of life of adult women with Turner syndrome in Lithuania

AimThe aim was to analyze emotional state, cognitive functioning and quality of life (QoL) of adult women with Turner syndrome (TS) in Lithuania. Patients and methodsOf all invited adult TS patients from Lithuanian TS database (n = 150), 68 (age 18–60, average 30.2 ± 9.0 years) agreed and were recruited for the study, as well as 68 age-matched healthy control women. Emotional state was evaluated by Profile of Mood States (POMS) questionnaire, cognitive functioning by Trail Making Test and Digit Span Test (DST) of Wechsler Adult Intelligence Scale, and QoL by WHO Brief Quality of Life Questionnaire (WHO QoL). ResultsPatients with TS were of a significantly shorter stature (p < .001) than age-matched control women and than the 3rd percentile of the National Standards of Lithuania.After the adjustment for height, weight and body mass index (BMI), no significant differences in emotional state were detected, though without the adjustment, depression-dejection (p = .004) score was significantly higher in TS women than in age-matched controls. Significantly worse cognitive functioning (attention capacity, visual scanning abilities, executive function and psychomotor speed, p < .001), as well as worse psychological (p = .002) and social (p = .006) aspects of QoL were found after the adjustment for height, weight and BMI in adult women with TS than in age-matched controls. ConclusionIn conclusion, after the adjustment for height, weight and BMI, adult women with Turner syndrome in Lithuania have impaired cognitive functioning and worse psychological and social aspects of QoL, but not emotional state and physical and environmental aspects of QoL in comparison to age-matched healthy women.

Anthropometric variations and low resting energy expenditure as a cause of metabolic risk in adult patients with Turner syndrome

There is currently little evidence available about the metabolic behaviour in adult patients with Turner syndrome (TS). Metabolic complications are common in adult TS patients, increasing morbidity and impairing quality of life. Body composition is altered in TS, secondary to the short stature. Metabolic damage in patients with TS is an important medical issue due to complications observed in adulthood. AimStudy some of the aspects involved in the origin of the metabolic damage. MethodsWe conducted an observational, cross-sectional, comparative, descriptive study in 20 adult patients with TS and 20 control patients matched by age, waist circumference, waist circumference/height ratio (W/Hr) as sensitive parameters for metabolic risk. Anthropometric, body composition, resting energy expenditure data and blood samples for blood chemistry, lipid and thyroid profile were considered. Multivariate analysis of variance and the Student's T-test were used to analyse the data all the patients’ data were corrected according to the predicted specific formula for adult TS. ResultsStatistically significant differences in energy expenditure (REE) modifications and in free fat mass per weight percentage were observed. ConclusionDifferences in anthropometric values and REE in TS could be implicated in the metabolic damage, and are attributable to the syndrome and not to the body composition.

Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome.

What are the prevalence and the outcomes of spontaneous pregnancies (SP) in a large cohort of French women with Turner syndrome (TS)? Amongst 480 women with TS, 27 women (5.6%) had a total of 52 SP, with 30 full-term deliveries for 18 women. Primary ovarian insufficiency is a classic feature of TS. So far, few studies have evaluated the rate of SP in these patients. The French Ministry of Health set up a National Reference Centre for Rare Growth Disorders (CRMERC), including TS. We studied a cohort of adult TS patients from seven endocrine units (Saint-Antoine, Pitié-Salpêtrière, Bicêtre, Lyon, Marseille, Brest, Reims Hospitals) belonging to this centre, between January 1999 and January 2014. A total of 480 adult patients with TS were included. The patients' clinical characteristics, karyotypes and reproductive histories had been collected, after informed consent, in a web database called CEMARA. Our reference population was issued from a database belonging to the French Health Ministry, collecting pregnancy outcomes in the French general population. In order to find predictive characteristics of SP, TS with spontaneous pregnancies were compared with non-pregnant TS patients from our cohort. There were 27 patients (5.6%) who had a total of 52 SP. The two predictive factors which correlated with occurrence of a SP were spontaneous menarche and mosaic karyotype. The median delay to conception was 6 months (range 0-84). Miscarriage occurred in 16 pregnancies, 30.8% versus 15% in the general French population (P < 0.01). The remaining pregnancy outcomes were legal abortion (n = 2), medical interruption (n = 3), intrauterine fetal death (n = 1) and delivery at term (n = 30). Caesarean section rates were higher than in the general population, respectively 46.7% versus 21% (P < 0.001). Pregnancy-induced hypertensive disorders (PHDs) occurred in four cases (13.3%), including two cases of mild pre-eclampsia (6.7%). Neither aortic root dilatation nor aortic dissection were observed. The median birthweight was 3030 g (range 2020-3460). Two cases of TS were identified in the 17 daughters issued from this cohort. It would have been interesting to evaluate AMH levels and SP occurrence, as a predictive factor. Unfortunately, hormonal measurements were missing for some patients. Prospective studies are necessary to display prognostic values of AMH for SP and thus better target fertility preservation programmes in TS patients. This study suggests that pregnancy outcomes in SPs are more favourable than those after oocyte donation in TS patients. However, the risk of fetal chromosomal abnormalities remains high. Our study will be useful in order to give patients with TS, their families, paediatricians and physicians involved in reproduction, better counselling concerning their fertility. Funding was provided by the Association pour la recherche Claude Bernard, Paris France All authors claim no competing interests. NA.

AMH as Predictor of Premature Ovarian Insufficiency: A Longitudinal Study of 120 Turner Syndrome Patients.

The majority of Turner syndrome (TS) patients suffer from accelerated loss of primordial follicles. Low circulating levels of anti-Müllerian hormone (AMH) may predict the lack of spontaneous puberty in prepubertal girls and imminent premature ovarian insufficiency (POI) in TS women with preserved ovarian function. To evaluate the association between circulating AMH and ovarian status in TS patients. Longitudinal observational cohort study. Tertiary referral center for pediatric and gynecologic endocrinology. A total of 120 TS patients, aged 0 to 48 years. Longitudinal measurements of AMH, FSH, LH, estradiol, and inhibin B according to age, karyotype (45,X; 45,X/46,XX mosaicism; miscellaneous karyotypes), and ovarian status (group 0, prepubertal; group 1, never ovarian function; group 2, ongoing ovarian function; and group 3, loss of ovarian function). Ovarian status was highly associated with the TS karyotype: spontaneous puberty—45,X (three of 44 patients), 45,X/46,XX (15 of 17), miscellaneous (17 of 42); and POI—45,X (three of three), 45,X/46,XX (one of 15), and miscellaneous (eight of 17). AMH was associated with ovarian status (eg, group 1, <2 pmol/L; vs group 2, 19 pmol/L; P < .001). AMH < 4 pmol/L (corresponding to <-2 SD) predicted absent puberty in prepubertal girls and POI in adolescent and adult patients. The majority of women with mosaic karyotype 45,X/46,XX had ongoing ovarian function in early adulthood. AMH < -2 SD predicted failure to enter puberty in young TS girls and imminent POI in adolescent and adult TS patients.

Abnormal aortic arch morphology in Turner syndrome patients is a risk factor for hypertension.

Hypertension in Turner syndrome (TS) is a multifactorial, highly prevalent and significant problem that warrants timely diagnosis and rigorous treatment. The objective of this study was to investigate the association between abnormal aortic arch morphology and hypertension in adult TS patients. This was a single centre retrospective study in 74 adult TS patients (age 29.41±8.91 years) who underwent a routine cardiac MRI. Patients were assigned to the hypertensive group (N=31) if blood pressure exceeded 140/90mmHg and/or if they were treated with antihypertensive medication. Aortic arch morphology was evaluated on MRI images and initially assigned as normal (N=54) or abnormal (N=20), based on the curve of the transverse arch and the distance between the left common carotid-left subclavian artery. We additionally used a new more objective method to describe aortic arch abnormality in TS by determination of the relative position of the highest point of the transverse arch (AoHP). Logistic regression analysis showed that hypertension is significantly and independently associated with age, BMI and abnormal arch morphology, with a larger effect size for the new AoHP method than for the classical method. TS patients with hypertension and abnormal arch morphology more often had dilatation of the ascending aorta. There is a significant association between abnormal arch morphology and hypertension in TS patients, independent of age and BMI, and not related to other structural heart disease. We suggest that aortic arch morphology should be included in the risk stratification for hypertension in TS and propose a new quantitative method to express aortic arch morphology.

High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymes.

Paucisymptomatic forms of Turner's syndrome (TS), in which short stature is the predominant clinical abnormality, remain underdiagnosed. Abnormal liver tests are extremely frequent in adult TS patients reflecting various types of hepatic lesions. The objective of the study was to investigate whether unexplained elevated liver enzymes in women with short stature could reveal X chromosome abnormalities of undiagnosed TS. Thirty-one consecutive short stature women displaying elevated liver enzymes and no previous diagnosis of TS were compared with 31 age-matched controls in a prospective study. Liver biopsy was performed in 26 patients. Systematic karyotype analysis and fluorescence in situ hybridization. X chromosome abnormalities were found in 27 patients and one control (87.0% vs 3.2%, P < .0001), including a 45,X/46,XX mosaicism in 24 patients and isochromosome of the long arm in three. Liver histological analysis showed architectural changes in 17 patients with nodular regenerative hyperplasia in 12. Biliary lesions were present in 13 patients and liver steatosis in 20. X chromosome abnormalities indicative of cryptic TS are extremely frequent in short-stature women with unexplained elevated liver enzymes. In short-stature women, abnormal liver tests should lead to systematic karyotype analysis.

Standardized Multidisciplinary Evaluation Yields Significant Previously Undiagnosed Morbidity in Adult Women with Turner Syndrome

Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults with TS have a reduced life expectancy, mainly related to structural abnormalities of the heart and aorta, and an increased risk of atherosclerosis. Our objective was to investigate the yield of an initial standardized multidisciplinary screening in adult TS patients. This was an observational study at a multidisciplinary care unit for adult women with TS. Participants were adult women with TS (n = 150). Mean age was 31.0 ± 10.4 yr, with 47% karyotype 45,X. All women were consulted by an endocrinologist, a gynecologist, a cardiologist, an otorhinolaryngologist, and when indicated, a psychologist. The screening included magnetic resonance imaging of the heart and aorta, echocardiography, electrocardiogram, dual-energy x-ray absorptiometry, renal ultrasound, audiogram, and laboratory investigations according to international expert recommendations. New diagnoses and prevalence of TS-associated morbidity were evaluated. Thirty percent of patients currently lacked medical follow-up, and 15% lacked estrogen replacement therapy in the recent last years. The following disorders were newly diagnosed: bicuspid aortic valve (n = 13), coarctation of the aorta (n = 9), elongation of the transverse aortic arch (n = 27), dilation of the aorta (n = 34), osteoporosis (n = 8), osteopenia (n = 56), renal abnormalities (n = 7), subclinical hypothyroidism (n = 33), celiac disease (n = 3), glucose intolerance (n = 12), dyslipidemia (n = 52), hypertension (n = 39), and hearing loss warranting a hearing aid (n = 8). Psychological consultation was needed in 23 cases. Standardized multidisciplinary evaluation of adult women with TS as advocated by expert opinion is effective and identifies significant morbidity. Girls with TS benefit from a careful transition to ongoing adult medical care.

Dilation of the ascending aorta in Turner syndrome - a prospective cardiovascular magnetic resonance study.

BackgroundThe risk of aortic dissection is 100-fold increased in Turner syndrome (TS). Unfortunately, risk stratification is inadequate due to a lack of insight into the natural course of the syndrome-associated aortopathy. Therefore, this study aimed to prospectively assess aortic dimensions in TS.MethodsEighty adult TS patients were examined twice with a mean follow-up of 2.4 ± 0.4 years, and 67 healthy age and gender-matched controls were examined once. Aortic dimensions were measured at nine predefined positions using 3D, non-contrast and free-breathing cardiovascular magnetic resonance. Transthoracic echocardiography and 24-hour ambulatory blood pressure were also performed.ResultsAt baseline, aortic diameters (body surface area indexed) were larger at all positions in TS. Aortic dilation was more prevalent at all positions excluding the distal transverse aortic arch. Aortic diameter increased in the aortic sinus, at the sinotubular junction and in the mid-ascending aorta with growth rates of 0.1 - 0.4 mm/year. Aortic diameters at all other positions were unchanged. The bicuspid aortic valve conferred higher aortic sinus growth rates (p < 0.05). No other predictors of aortic growth were identified.ConclusionA general aortopathy is present in TS with enlargement of the ascending aorta, which is accelerated in the presence of a bicuspid aortic valve.

Effects of growth hormone on body proportions in Turner syndrome compared with non-treated patients and normal women

The majority of anthropometric assessments in Turner syndrome (TS) patients has focused on height. To analyze body proportions in young adult TS patients either treated or not treated with rhGH, and to compare them with a group of age-matched healthy women. Standing height, sitting height, weight, foot and leg lengths, arm span, head circumference, biliac and biacromial diameters were measured in 52 non-treated TS patients, 30 treated with rhGH and 133 healthy women. Age at the start of rhGH therapy varied from 7.8 to 15.1 yr (10.0±1.3 yr), the duration of treatment from 2.8 to 8.2 yr (3.7±1.5 yr) and the mean recombinant human GH (rhGH) dose was 0.42 mg/kg/week (from 0.32 to 0.50 mg/kg/week). Nontreated patients did not show any difference in anthropometric variables when compared with the treated ones, except for hand length (p=0.02) and height (p=0.05), which were increased in the treated group. All anthropometric variables, except head circumference, were different when comparing TS patients (either treated or not) with age-matched healthy women. Brazilian TS patients either treated or not with rhGH showed almost no differences in terms of their body proportions. This result is probably due to the late age at the start of treatment, and/or the short period of rhGH administration. Hand length was different between the groups, showing the importance of including the extremities in body proportion assessment during rhGH treatment of TS patients.

A specific bioelectrical impedance equation to predict body composition in Turner's syndrome

Cardiovascular disease is one of the main causes for Turner syndrome (TS) mortality and the evaluation of its risk factors such as excess body fat and its distribution is considered one of the major aspects of the adult patient care. To develop and validate a specific bioelectrical impedance analysis (BIA) equation to predict body composition in TS patients. Clinical and anthropometric data, dual-energy X-ray absorptiometry (DXA) for total fat-free mass (FFM) and BIA for resistance and reactance were obtained from 50 adult TS patients. Linear regression analysis was performed with multiple clinical and BIA data to obtain a predicting equation. The equation developed to estimate FFM in adult TS patients showed great consistency with DXA, elevated correlation (r = 0.974) and determination (r(2) = 0.948) coefficients and an adequate standard error estimate (SEE = 1.52 kg). The specific equation developed here allowed making an adequate FFM estimate in adult TS patients.

Psychosocial Functioning, Self-Perception and Body Image and Their Auxologic Correlates in Growth Hormone and Oestrogen-Treated Young Adult Women with Turner Syndrome

Background: Few data are available on the psychosocial status of growth hormone (GH) and oestrogen treated women with Turner syndrome (TS). In this study, we evaluated psychosocial functioning, self-concept and body image in GH and oestrogen treated young adult women with TS and we studied the relationship with auxological parameters. Patients and Methods: Thirty women with TS (mean ± SD age: 22.1 ± 2.4 years), all treated with GH and oestrogens if indicated, and an age-matched reference group of 44 non-Turner female students (age: 20.5 ± 2.1 years) completed 3 questionnaires evaluating, respectively, behavioural and emotional problems (Young Adult Self Report), self-concept (Self Perception Profile for College Students) and body-image (Body Attitude Scale). Results: TS patients did not report more behavioural and emotional problems compared to the non-TS females except for attention problems; they even reported fewer problems on some subscales (somatic complaints, thought problems, delinquent behaviour). TS patients did not differ from the non-TS female group in their bodily satisfaction. TS patients, particularly patients with a 45,X karyotype, perceived themselves as less socially competent. BMI was significantly related to the appraisal score of the Body Attitude Scale, whereas height was not related to any of the evaluated psychosocial parameters. Conclusion: The psychosocial adaptation of young adult women with TS, diagnosed at an early age and treated during childhood with GH and oestrogens if indicated, appears to be quite satisfactory. Follow-up of adult TS patients should not neglect the problem of overweight and associated psychosocial consequences.

Evaluation by magnetic resonance imaging of aortic dilatation and coarctation in adult Turner syndrome patients

Turner syndrome has well-recognized cardiovascular complications that appear in up to 40% of the patients and are more common in monosomy X. Left-sided obstructive lesions are relatively more frequent and predispose to aortic root dilatation and life-threatening aortic dissection. However, bicuspid aortic valves, hypertension, coarctation and aortic stenosis are also at risk of aortic dissection. Currently there is no clear guideline regarding the best single test for detection or monitoring aortic disease progression. Routine thoracic aortic magnetic resonance imaging (MRI) was introduced to the dedicated Turner syndrome clinic, with repeated MRI examination every 2 years to detect or assess progression of aortic lesions. Seven out of a total of 17 patients developed aortic anomalies during the course of surveillance, which included coarctation as well as aortic dilatation. None of these patients had any cardiovascular symptoms and the vascular abnormalities were detected on MRI at presentation or during the course of their follow-up. In patients with previously normal aortic imaging, the time interval for the lesion to be detectable varied between 2 and 6 years. In one patient there was progression of an established lesion over the 2-year period. In the few patients presented here, regular imaging at first consultation followed by every 2 years would appear to be warranted, although the exact frequency of imaging and by what modality still need to be ascertained definitively.

Health and Psychosocial Status of Patients with Turner Syndrome after Transition to Adulthood: The Belgian Experience

Background: Most girls with Turner syndrome (TS) are intensively followed by paediatricians, but are lost to follow-up when they reach adulthood. To gain insight into the adult medical and psychosocial situation, we performed a survey in young adult TS patients. Patients and Methods: A questionnaire concerning current health status, education, occupation and living situation was sent to 160 young adult TS women, all treated during childhood with GH and oestrogen if needed. Results: We received 102 completed questionnaires. Mean ± SD age at reception of the questionnaire was 23.4 ± 3.3 years, height 153.3 ± 5.2 cm, body mass index 23.7 ± 4.9 kg/m². Age and auxological parameters were comparable between responders and non-responders. Thirteen (12.7%) responders were not under regular medical care; 15 (14.7%) were seen by a general practitioner, while 28 (27.4%) needed several specialists. Forty-one (40.2%) patients reported health problems. The most frequently reported problem was hypertension (10.7%), followed by hypothyroidism (5.8%) and back problems (4.9%). Twenty-four (23.5%) of the 41 patients were taking medication for the indicated health problems. Twenty-six (25.5%) women had undergone spontaneous puberty; 16 of them reported spontaneous menstruations while 10 received oestrogen replacement therapy. Of the 76 women with induced puberty, 11 (14.5%) were not taking any oestrogen anymore. Compared with the general population, more TS women attended university and more obtained higher education. Forty-six women (45.1%) were working full-time, 7 (6.9%) were unemployed, and 4 (3.9%) received an allocation. Seventy (68.6%) patients were still living with their parents, while 18 (17.6%) were living together or married, and 14 (13.7%) were living alone. Conclusions: The transition of adolescents with TS to adult medical care is not optimal in Belgium. Although 40.2% of these young women reported health problems, 12.7% did not consult any physician. Many TS women did not take oestrogen replacement therapy. A specialized multidisciplinary approach for adults with TS is needed in order to optimize health and psychosocial status in these women.

GROWTH PROMOTING EFFECT OF GROWTH HORMONE AND LOW DOSE ETHINYL ESTRADIOL IN GIRLS WITH TURNER SYNDROME: FINAL HEIGHT RESULTS

In 1987 a multicenter trial was started to evaluate the effect of daily s.c. rhGH treatment (0.15 IU/kg/day Genotonorm, Kabi Pharmacia, Sweden) in 40 girls with Turner syndrome (TS) (mean±SD age: 11.3±2.6 yrs). Twenty randomly selected girls received in addition 25 ng/kg/day ethinylestradiol (EE2) orally. From the 3rd year of treatment puberty was induced with 100 ng/kg/day EE2 in the girls with a bone age older than 11 years. Thirty-six patients have been followed for 5 years. Except early breast budding in 9 out of 20 girls treated with rhGH and 25 ng/kg/day EE2, no differences were found between the patients treated with rhGH alone and those also treated with low dose EE2. In 28 patients with a bone age above 13 yrs, height attained 5 years after the start of rhGH treatment is 150.5±4.4 cm. This is higher (P<0.001) than the adult height of 144.8±5.8 cm of 43 untreated TS girls. In these 28 girls, the difference in height attained after 5 years of treatment and corrected mid parental height is 10.8±4.8 cm, which is less (P<0.001) than in untreated adult TS patients (16.2±4.8 cm). These results provide further evidence that treatment with rhGH increases final height in TS girls.