| 1. |
- Naessen, Sabine, et al.
(författare)
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Autoimmune Disease in Turner Syndrome in Sweden : An up to 25 Years' Controlled Follow-up Study
- 2024
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Ingår i: Journal of Clinical Endocrinology and Metabolism. - : Endocrine Society. - 0021-972X .- 1945-7197. ; 109:2, s. e602-e612
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Tidskriftsartikel (refereegranskat)abstract
- Context: Turner syndrome (TS) is the most common chromosomal aberration in women; it is the result of structural or numeric abnormalities in the X chromosome. Autoimmune hypothyroidism has been recognized as one of the more prominent disorders associated with TS.Objective: This work aimed to study the prevalence of autoimmune diseases in TS.Methods: A cross-sectional, longitudinal, 25-year follow-up study was conducted of patients from adult Turner centers at the University Hospitals, Sweden. During 1994 to 2020, a total of 503 women aged 16 to 71 years with TS were evaluated consecutively every fifth year according to national guidelines. A random population sample of women, n = 401, aged 25 to 44 years, from the World Health Organization Monitoring of Trends and Determinants for Cardiovascular Disease (MONICA) project served as controls. Serum thyrotropin, free thyroxine, vitamin B-12, antithyroid peroxidase (anti-TPO), and antitransglutaminase antibodies were measured.Results: Mean follow-up time (years) was 16 +/- 7 for patients and 13 +/- 1 for controls. From study start, the prevalence increased in TS for hypothyroidism 40% to 58%, vitamin B-12 deficiency 5% to 12%, celiac disease 4% to 7%, positive anti-TPO 26% to 41%, and antitransglutaminase antibodies 6% to 8% (P < .0001 vs controls). Type 1 diabetes and Addison disease were rare. The only interrelationship was between hypothyroidism and vitamin B-12 deficiency, both in TS and controls. No association between autoimmune disease and karyotype, antecedent growth hormone treatment, or ongoing estrogen hormone replacement, was seen in TS.Conclusion: In women with TS up to older than 80 years, more than half developed hypothyroidism, mainly autoimmune, during follow-up. Awareness of vitamin B-12 deficiency and celiac disease throughout life is also recommended in women with TS.
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| 2. |
- Naessén, Sabine
(författare)
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Endocrine and metabolic disorders in bulimic women and effects of antiandrogenic treatment
- 2006
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Background: Bulimia is a mental disorder frequently associated with menstrual disturbances and low estradiol levels although most bulimic women are of normal weight. Low bone mass has also been reported in these women. Furthermore, increased androgen levels and polycystic ovaries (PCO) have been described in bulimic women. Little is known about the mechanisms of these hormonal disturbances and the role of sex hormones in the etiology of the disease has not been fully explored. Androgens may promote bulimic behavior by influencing food craving or impulse control. Aims: The specific aims of this work were to compare women with bulimia to healthy controls with respect to: 1) menstrual disturbances and the occurrence of polycystic ovary syndrome (PCOS) 2) endocrine and nutritionrelated factors predicting bone mass 3) estrogen receptor (ER) â polymorphism in view of the potential role of estrogen signalling in bulimic disease 4) effects of an antiandrogenic oral contraceptive (OC) on appetite and eating behaviour. Methods: Seventy-seven bulimics and 59 controls were investigated with respect to menstrual status, PCO, symptoms of hyperandrogenism, bone mineral density (BMD), sex hormone levels and ERâ polymorphism. Meal-related appetite response and bulimic symptoms were evaluated in 21 women with bulimia nervosa before and after three months of treatment with an antiandrogenic OC. Results: 1) Bulimics had a higher occurrence of menstrual disturbances, hirsutism and PCOS than controls. Positive correlations between hirsutism and levels of biologically active testosterone were found in bulimics but not in controls. 2) Bulimics had a lower spinal BMD and higher frequency of osteopenia in the total body than controls. Subgroups of bulimics with a history of amenorrhea or previous anorexia nervosa had the lowest BMD values, whereas those without such history did not differ from controls. Multiple regression analysis including significant endocrine and nutrition-related variables, revealed previous anorexia nervosa to be the strongest determinant of spinal BMD in bulimic women. 3) An association was found between two common polymorphisms in the ERâ gene and bulimic disease. A novel variant changing the primary structure of ERâ protein was identified in one bulimic patient, but an initial characterization of this variant did not reveal any differences compared to the wild type protein. 4) Antiandrogenic OC treatment reduced meal-related hunger and gastric distention in women with bulimia nervosa and improved bulimic behavior in relation to reduced testosterone levels. Conclusions: 1) Our study supports an increased frequency of PCOS in bulimic women. This endocrine disorder may be of importance for the development of bulimia. 2) Low bone mass in bulimics could be explained by previous anorexia nervosa, whereas bulimia per se does not influence bone mass negatively. 3) Genetic variation in ERâ may play a role in the etiology of bulimic disease. 4) An antiandrogenic OC may develop into a new strategy for treatment of women with bulimia nervosa not responding to conventional therapy and particularly in those with hyperandrogenic symptoms.
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| 3. |
- Naessen, Sabine, et al.
(författare)
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Women with bulimia nervosa exhibit attenuated secretion of glucagon-like peptide 1, pancreatic polypeptide, and insulin in response to a meal
- 2011
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Ingår i: American Journal of Clinical Nutrition. - : Elsevier BV. - 0002-9165 .- 1938-3207. ; 94:4, s. 967-972
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Tidskriftsartikel (refereegranskat)abstract
- Background: The eating disorder bulimia nervosa (BN) is characterized by frequent episodes of binge eating, followed regularly by inappropriate compensatory behavior, such as self-induced vomiting. Objective: The current investigation was designed to examine possible alterations in the secretion of the gastrointestinal satiety peptides glucagon-like peptide 1 (GLP-1) and pancreatic polypeptide (PP) in women with BN. Design: Twenty-one women with BN and 17 healthy control subjects of comparable age and BMI were recruited. After fasting overnight, the subjects provided blood samples during ingestion of a standardized meal and self-rated their appetite on a visual analog scale. Fasting and meal-related secretion of the incretin GLP-1 and the meal-related feedback signal PP and insulin and glucose as indicators of the metabolic homeostasis were analyzed. Results: Women with BN had significantly lower fasting and postprandial serum concentrations of GLP-1 (P < 0.01) and PP (P < 0.05) than did the control subjects. Furthermore, both the basal (P < 0.001) and peak (P < 0.05) concentrations of insulin were significantly attenuated in the bulimic subjects, whereas glucose concentrations were normal. As a consequence, the bulimic homeostasis model assessment of insulin index values were also lower (P < 0.001). Conclusions: Women with BN secrete abnormally low amounts of GLP-1 and PP, possibly because of the adaption to large meals in the form of enlarged gastric capacity and reduced muscle tone in the gastric wall. Attenuated secretion of these gastrointestinal satiety peptides may play a role in the maintenance of bulimic behavior.
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| 4. |
- Thunström, Sofia, et al.
(författare)
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Aortic size predicts aortic dissection in Turner syndrome - A 25-year prospective cohort study
- 2023
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Ingår i: International Journal of Cardiology. - : Elsevier BV. - 0167-5273 .- 1874-1754. ; 373, s. 47-54
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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