Psychiatric disorders and comorbidity in women with Turner Syndrome: a retrospective national cohort study.

Turner syndrome (TS) is a genetic condition characterized by partial or complete monosomy X. A reduced life expectancy has been shown in TS, depending on an increased risk of aortic dissection, and ischemic heart disease. Studies covering the occurrence of psychiatric conditions are sparse within TS. Several case reports describe concomitant TS and neuropsychiatric abnormalities that may represent a pathogenetic link to genetics, as well as feature correlates of TS. The aim of this study was to determine the presence, and the frequency of psychiatric diagnosis in women with TS in a Swedish cohort followed during 25 years' time. Statistics from the entire female population in Sweden of corresponding age was used as reference. Data were retrieved from clinical examinations and validated from the National Board of Health and Welfare registries for women with TS (n = 487), aged 16 to 84 years, with respect to mental health disorders. The most common diagnoses in TS were mood and anxiety disorders. There was no increase in psychiatric diagnosis within the group with time, nor correlation to specific karyotype or somatic comorbidity as congenital heart disease and hypothyroidism, hormonal treatment, or childbirth. In addition, the frequency of psychiatric diagnosis in TS was lower than in the population-based data. Further investigations are needed in the view of the fact that women with Turner syndrome should not be burdened with more severe diagnoses.

Aortic size predicts aortic dissection in Turner syndrome - A 25-year prospective cohort study.

BACKGROUND: Women with Turner syndrome (TS) have an increased risk of aortic dissection. The current recommended cutoff to prevent aortic dissection in TS is an aortic size index (ASI) of ≥2.5 cm/m2. This study estimated which aortic size had the best predictive value for the risk of aortic dissection, and whether adjusting for body size improved risk prediction. METHODS: A prospective, observational study in Sweden, of women with TS, n = 400, all evaluated with echocardiography of the aorta and data on medical history for up to 25 years. Receiver operating characteristic (ROC) curves, sensitivity and specificity were calculated for the absolute ascending aortic diameter (AAD), ascending ASI and TS specific z-score. RESULTS: There were 12 patients (3%) with aortic dissection. ROC curves demonstrated that absolute AAD and TS specific z-score were superior to ascending ASI in predicting aortic dissection. The best cutoff for absolute AAD was 3.3 cm and 2.12 for the TS specific z-score, respectively, with a sensitivity of 92% for both. The ascending ASI cutoff of 2.5 cm/m2 had a sensitivity of 17% only. Subgroup analyses in women with an aortic diameter ≥ 3.3 cm could not demonstrate any association between karyotype, aortic coarctation, bicuspid aortic valve, BMI, antihypertensive medication, previous growth hormone therapy or ongoing estrogen replacement treatment and aortic dissection. All models failed to predict a dissection in a pregnant woman. CONCLUSIONS: In Turner syndrome, absolute AAD and TS-specific z-score were more reliable predictors for aortic dissection than ASI. Care should be taken before and during pregnancy.

Teriparatide treatment in severe osteoporosis - a controlled 10-year follow-up study.

BACKGROUND: Teriparatide was the first anabolic agent recommended for the treatment of osteoporosis. Long-term real-world, controlled studies are not available. The purpose was to evaluate the long-term effects of treatment with teriparatide on fractures and Health Related Quality of Life in subjects with established osteoporosis in comparison with placebo treated patients with osteoporosis and the general population. METHODS: A 10-year follow-up was performed after a prospective, open-labelled study with teriparatide 20 µg given subcutaneously daily for a mean of 18 months (range 14-24 months) in 40 women, mean age 69 years, with osteoporosis and vertebral compression. Placebo treated women, n = 25, mean age 60 years, from a randomized, double-blind, placebo-controlled growth hormone trial with daily subcutaneous injections for 18 months, with osteoporosis were used as controls. Dual energy x-ray absorptiometry and questionnaires were performed at start, after 18 months, after 36 months and after 10 years. Women, n = 233, of similar age from a random population sample, also served as controls and were followed in parallel. All fractures were X-ray verified. RESULTS: Fractures decreased from 100 to 35% in the teriparatide treated patients (p < 0.0001) to similar levels as in the population sample, 25 to 28% at start and after 10 years, respectively. Bone mineral density increased on teriparatide but returned to levels at treatment start after 10 years. Health Related Quality of Life was lower in the teriparatide group than in the population (p < 0.001) before and, after treatment and at 10 years. CONCLUSIONS: Anabolic hormonal treatment with teriparatide reduced fracture prevalence to similar levels as in the general population at 10 years' follow-up. Health Related Quality of Life was low in osteoporosis and unaffected by bone specific treatment.

Comorbidity and quality of life in obesity-a comparative study with the general population in Gothenburg, Sweden.

CONTEXT: Obesity is considered to have a detrimental impact on health-related quality of life (HRQoL). OBJECTIVE: To compare HRQoL in a well-defined group of people with obesity with a population-based control group from the general public. DESIGN: Observational cross-sectional cohort study with a reference population. SETTING: The Regional Obesity Center at the Department of Medicine at Sahlgrenska University Hospital, Gothenburg, Sweden. PARTICIPANTS: People with obesity (n = 1122) eligible for surgical and non-surgical obesity treatment in routine care were included consecutively between 2015 and 2017 into the BASUN study. Men and women from the WHO-MONICA-GOT project were used as a reference population (n = 414). MAIN OUTCOME MEASURES: HRQoL was measured with the RAND-36/Short Form-36 questionnaire (SF-36) and a Visual Analogue Scale (VAS) for self-related health (SRH). Prescription drugs for hypertension, diabetes mellitus, depression, and anxiety were taken as a proxy for these conditions. RESULTS: People with obesity rated their overall HRQoL lower than the reference population according to the SRH-VAS. Lower scores were reported on physical and social functioning, vitality, general and mental health after adjustment for age and use of prescription drugs (considered a proxy for burden of disease, or comorbidities) using the RAND-36/SF-36 questionnaire. Use of some psychopharmacological agents was more common in patients with obesity. CONCLUSION: People with obesity seeking help with weight reduction are more likely to have lower physical and mental self-reported HRQoL than the general population.

Hearing and Balance Exceed Initial Bone Mineral Density in Predicting Incident Fractures: A 25-Year Prospective Observational Study in Menopausal Women With Osteoporosis.

Hearing and balance deteriorate, and fracture incidence increases with age, especially in women. The aim of the present study was to investigate whether impaired hearing and body balance are stronger predictors of fractures than bone mass. Between 1995 and 1997, 80 women, aged 50 to 70 years, with primary osteoporosis, taking menopausal hormone therapy, mainly for menopausal symptoms, participated in a double-blind, randomized, placebo-controlled study of treatment with growth hormone versus placebo. All women received calcium 750 mg and vitamin D 400 U daily. They were then examined yearly until 2007 and followed up by registers until 2020. Hearing was assessed by audiometry. Body balance and fine motor function were tested according to the Bruininks-Oseretsky test. Bone properties were measured with DXA. Data on fractures were derived from the Gothenburg Hospital register. Over the 25-year follow-up, 50 women (63%) sustained 104 fractures, most often related to accidental falls. Thoracic and lumbar spine fractures were most common (36%). Other fractures occurred in the pelvis (14%), humerus (14%), hip (11%), and wrist (10%). Hearing impairment at baseline, measured as pure tone average-high (p = 0.007), pure tone average-mid (p = 0.003), and speech-recognition score (p = 0.025), was associated with a subsequent first fracture, as were worse body balance (p = 0.004), upper limb coordination (p = 0.044), and higher running-speed agility (p = 0.012). After adjustment for age and BMD, pure tone average-high (p = 0.036), pure tone average-mid (p = 0.028), and body balance (p = 0.039) were still significantly associated with incident fractures. Bone mineral content, BMD, and treatment at baseline were not associated with subsequent fracture. In conclusion, hearing and body balance at baseline exceeded initial BMD in predicting incident fractures in osteoporotic women regardless of treatment during 25-year follow-up. © 2021 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

Low health-related quality of life in hypoparathyroidism and need for PTH analog.

Objective: Hypoparathyroidism (HypoPT) is a rare endocrine disorder in which insufficient levels of parathyroid hormone (PTH) lead to low serum calcium (S-Ca) levels and muscular cramps. The aim was to study the health-related quality of life (HRQoL) and comorbidities in patients with HypoPT compared with the general population and to estimate the need of treatment with PTH analog. Design: Patients with HypoPT were identified and compared with a population sample. Short Form-36 (SF-36) and EuroQol-5 Dimensions Visual Analogue Scale questionnaires were used. All patients were followed up at the Sahlgrenska University Hospital outpatient clinic. Methods: From the medical records between 2007 and 2020, 203 patients with HypoPT were identified and compared with a population sample (n = 414) from the World Health Organization's (WHO) MONICA project, Gothenburg, Sweden. Of the 203 patients who met the diagnostic criteria, 164 were alive and 65% answered the HRQoL questionnaires. Results: Patients with HypoPT, 80% postsurgical, and controls had similar age (60 years) and sex distribution (80% women). Patients had lower SF-36 summary component scores for physical (40.0 (interquartile range (IQR): 21) vs 51.2 (IQR: 14.6); P < 0.001) and mental (43.1 (IQR:17.4) vs 56.1(IQR:13.3); P < 0.001) well-being, irrespective of etiology or calcium levels. Individuals with HypoPT had more medications and lower renal function but not higher mortality than controls. Low HRQoL together with low calcium was present in 23% of individuals with HypoPT. Conclusion: HRQoL was markedly lower in patients with HypoPT than in controls and independent of S-Ca levels. Treatment with PTH analog could be considered at least among patients with both low HRQoL and low calcium levels.

Health-related quality of life in hypothyroidism-A population-based study, the WHO MONICA Project.

OBJECTIVE: To explore health-related quality of life (HRQoL) among subjects with hypothyroidism compared to subjects without hypothyroidism in the general population. HRQoL is important in clinical practice. Hypothyroidism is prevalent, mainly found in women, and increasing with age. DESIGN: Cohort study of random population sample. PATIENTS: Women and men, n = 414 (39-78 years) from the WHO MONICA project, Gothenburg, Sweden, participated. Hypothyroidism was defined as subjects having levothyroxine supplementation or serum thyroid-stimulating hormone (S-TSH) >4.2 mU/L. MEASUREMENTS: Health-related quality of life was measured with Psychological General Well-Being Index (PGWB), Nottingham Health Profile (NHP), Short Form 36 Health Survey (SF-36) and a single item self-rated health scale (0-100), and stress was rated 1-6. The results were adjusted for age, sex and comorbidity using analysis of covariance (ANCOVA). RESULTS: Hypothyroidism was found in 70 subjects (17%). They scored worse HRQoL than controls regarding Sleep (p < .001), Social isolation (p = .01) and Total NHP (p < .05), and had more medication in general 2.7 ± 2.5 vs. 1.8 ± 2.1, p < .05. Subjects with levothyroxine (n = 40) showed similar results as the total hypothyroid group. Subjects unaware of their newly detected elevated STSH (n = 30) showed lower HRQoL in Sleep (p < .01) and Pain (p < .05) in NHP. HRQoL was similar in subjects with and without positive thyroperoxidase antibodies (TPO-Ab) either in those with hypothyroidism (44% TPO-Ab) or controls (9% TPO-Ab). CONCLUSION: Men and women with hypothyroidism in the general population reported having more issues with Sleep and Social isolation than those without hypothyroidism irrespective of TPO-Ab. Scores were similar in all of the other HRQoL domains measuredAQ5.

Comorbidity and health-related quality of life in Somali women living in Sweden.

Objective: To explore the relationship between low serum vitamin D levels and comorbidity in Somali women, immigrants to Sweden. Design and setting: Cohort study in a Primary Health Care Center and a University Hospital. Subjects: Somali women skin type V, n = 114, aged 18-56 years, from latitude 0-10○ N, living in Sweden, latitude 57○ N > 2 years were compared with women from a population sample, skin type II-III, n = 69, aged 38-56 years, the WHO MONICA study, Gothenburg, Sweden. Main outcome measures: Serum (S)-25(OH)D, S-parathyroid hormone (PTH), comorbidity and Health-Related Quality of Life (HRQoL) using the Short Form-36 (SF-36) and part of the EQ-5D questionnaires. All calculations were corrected for age. Results: Vitamin D deficiency (S-25(OH)D < 25 nmol/l) was found in 73% of the Somali women and in 1% of the controls (p < .0001). S-PTH was elevated (>6.9 pmol/l) in 26% and 9%, respectively (p < .004). Somali women used less medication, 16% vs. 55%, p < .0001) but more allergy medication, 11% vs. 7% (p = .006), had fewer fractures, 2% vs. 28% (p < .0001) and lower HRQoL in 7 out of 9 scales (p < .05-.001), than native controls. There were no differences in the prevalence of diabetes mellitus, hypothyroidism, positive thyroid peroxidase antibodies, vitamin B12 deficiency, celiac disease or hypertension. Conclusions: Vitamin D deficiency was common in Somali women living in Sweden, 73%, but comorbidity was low. Both mental, and especially physical HRQoL scores were lower in the Somali women. The effects of long-lasting deficiency are unknown. Key points The aim was to explore the relationship between vitamin D deficiency (S-25(OH)D < 25 nmol/l) and comorbidity in immigrants. Vitamin D deficiency was common in Somali women living in Sweden, 73%, but comorbidity of hypothyroidism, diabetes mellitus, hypertension, fractures and use of medications was low. Both mental, and especially physical, Health-Related Quality of Life were lower in the Somali women than in native Swedish women. The effects of long-lasting deficiency are unknown.

Health-Related Quality of Life in Turner Syndrome and the Influence of Growth Hormone Therapy: A 20-Year Follow-Up.

CONTEXT: The factors that affect the health-related quality of life (HRQoL) of women with Turner syndrome (TS) are controversial. OBJECTIVE: The aim was to describe the HRQoL of women with TS with a focus on how given GH treatment and comorbidity influence HRQoL in adulthood and to compare HRQoL of women with TS with that of women in the general population. DESIGN: Longitudinal cohort study, up to 20 years. SETTING: The Turner Center at the Section for Endocrinology and Department of Reproductive Medicine at Sahlgrenska University Hospital, Gothenburg, Sweden. PARTICIPANTS: Women with TS (n = 200), age range 16 to 78 years, were included consecutively and monitored every fifth year between 1995 and 2018. Women from the World Health Organization MONItoring of trends and determinants for CArdiovascular disease project were used as reference populations. INTERVENTIONS AND MAIN OUTCOME MEASURES: HRQoL was measured using the Psychological General Well-Being index and the Nottingham Health Profile. Associations with somatic variables were assessed using longitudinal linear regression models. RESULTS: HRQoL was not associated with GH treatment in TS in spite of a mean 5.7 cm taller height. HRQoL was only associated with height per se in one of 13 subscales (P < 0.01). HRQoL was negatively affected by higher age, higher age at diagnosis, and hearing impairment in TS. Women with TS reported a similar HRQoL to the reference population. CONCLUSIONS: No association between previous GH treatment and HRQoL was found during the up to 20 years of follow-up in women with TS. HRQoL of women with TS and the reference population was similar.

Comparison between different instruments for measuring health-related quality of life in a population sample, the WHO MONICA Project, Gothenburg, Sweden: an observational, cross-sectional study.

OBJECTIVE: The general aim was to meet the need for empirical comparative studies of health-related quality of life (HRQoL) assessment instruments, by evaluating and comparing the psychometric properties and results of three different, widely used, generic HRQoL instruments in a population sample. The specific aims were to evaluate the subscales of the different instruments that measure the same domain and to assess the association between the HRQoL measures and a single-item self-rated health scale. DESIGN: An observational cross-sectional study. SETTING: A population-based sample from Gothenburg, Sweden, was studied in 2008 in the WHO MONItoring of trends and determinants for CArdiovascular disease. PARTICIPANTS: A total of 414 subjects were included, 77% women, age range 39-78 years. INTERVENTIONS: The Nottingham Health Profile (NHP), the Short Form-36 questionnaire (SF-36), the Psychological General Well-Being Index (PGWB) and a self-rated health scale were used. OUTCOME MEASURES: Scores were analysed for their psychometric properties, internal consistency (Cronbach's α), construct validity (Spearman's rank correlations and R2 coefficients) and discriminative ability for the presence of self-rated ill-health. RESULTS: PGWB and SF-36 had higher Cronbach's α scores than NHP. All correlations calculated between the subscales that were conceptually similar were significant (p<0.01). All subscales could differentiate the presence of self-rated ill-health according to the self-rated health scale (p<0.001). The self-rated health scale correlated strongly with all of the three HRQoL instruments used. CONCLUSIONS: There was a high concordance between the instruments within each domain that was conceptually similar. All three HRQoL instruments (PGWB, SF-36 and NHP) could discriminate the presence of self-rated ill-health. The simple and quick self-rated health scale correlated strongly with the more time-consuming PGWB, SF-36 and NHP. The result supports the existence of a strong association between the self-rated health scale and HRQoL in the general population.

Effect of Growth Hormone Treatment on Fractures and Quality of Life in Postmenopausal Osteoporosis: A 10-Year Follow-Up Study.

CONTEXT: Growth hormone (GH) treatment increases bone mineral density (BMD) in women with postmenopausal osteoporosis. OBJECTIVE: The objective was to report bone data, fractures, and quality of life (QoL) in a 10-year follow-up of women who had received GH for 3 years and compared with controls followed in parallel. DESIGN AND SETTING: A follow-up of a double-blind, placebo-controlled study conducted at Sahlgrenska University Hospital was performed. PATIENTS: Eighty women aged between 50 and 70 years with osteoporosis and estrogen hormone replacement were studied and compared with an age-matched random population sample of women (n = 120) from the World Health Organization Monitoring of Trends and Determinants in Cardiovascular Disease project (Gothenburg, Sweden). INTERVENTIONS: Patients were randomized to GH 1.0 U or GH 2.5 U recombinant human GH or placebo sc daily during 3 years. All received calcium 750 mg and vitamin D 400 U and were followed up during 10 years. MAIN OUTCOME MEASURES: BMD and bone mineral content were measured with dual-energy X-ray absorptiometry. QoL was estimated with the 36-item Short Form. RESULTS: GH increased BMD and bone mineral content dose dependently in all regions (P = .01, GH 1.0 U, and P = .0006, GH 2.5 U vs placebo). After 10 years the number of fractures decreased from 56% to 28% (P = .0003) in patients evenly distributed between groups. In controls, fractures increased from 8% to 32% (P = .0008). QoL did not change during GH treatment or during the 10-year follow-up and did not differ compared with controls. CONCLUSION: GH treatment was beneficial for bone and fracture outcome after 10 years but did not affect the QoL of the women with postmenopausal osteoporosis.