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motility as well as mood, sleep and appetite ( 11 ). APECED patients with circulating TPH-1 Aabs have been shown to have significantly lower serum levels of 5-HT than patients without such Aabs ( 12 ). We have previously reported that severe constipation
K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
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Department of Gynecology and Obstetrics, Haukeland University Hospital, Bergen, Norway
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K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway
Department of Medicine, Haukeland University Hospital, Bergen, Norway
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Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden
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Department of Sleep, Landspitali University Hospital Reykjavík, Reykjavik, Iceland
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Allergy and Lung Health Unit, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia
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Albacete Faculty of Medicine, Castilla-La Mancha University, Albacete, Spain
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The National Research Center for the Working Environment, Copenhagen, Denmark
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K.G. Jebsen Center for Autoimmune Disorders, University of Bergen, Bergen, Norway
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Objective
To investigate markers of premature menopause (<40 years) and specifically the prevalence of autoimmune primary ovarian insufficiency (POI) in European women.
Design
Postmenopausal women were categorized according to age at menopause and self-reported reason for menopause in a cross-sectional analysis of 6870 women.
Methods
Variables associated with the timing of menopause and hormone measurements of 17β-estradiol and follicle-stimulating hormone were explored using multivariable logistic regression analysis. Specific immunoprecipitating assays of steroidogenic autoantibodies against 21-hydroxylase (21-OH), side-chain cleavage enzyme (anti-SCC) and 17alpha-hydroxylase (17 OH), as well as NACHT leucine-rich-repeat protein 5 were used to identify women with likely autoimmune POI.
Results
Premature menopause was identified in 2.8% of women, and these women had higher frequencies of nulliparity (37.4% vs 19.7%), obesity (28.7% vs 21.4%), osteoporosis (17.1% vs 11.6%), hormone replacement therapy (59.1% vs 36.9%) and never smokers (60.1% vs 50.9%) (P < 0.05), compared to women with menopause ≥40 years. Iatrogenic causes were found in 91 (47%) and non-ovarian causes in 27 (14%) women, while 77 (39%) women were classified as POI of unknown cause, resulting in a 1.1% prevalence of idiopathic POI. After adjustments nulliparity was the only variable significantly associated with POI (odds ratio 2.46; 95% CI 1.63–3.42). Based on the presence of autoantibodies against 21 OH and SCC, 4.5% of POI cases were of likely autoimmune origin.
Conclusion
Idiopathic POI affects 1.1% of all women and almost half of the women with premature menopause. Autoimmunity explains 4.5% of these cases judged by positive steroidogenic autoantibodies.
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Objective: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is rare, and manifestations of autonomic dysregulation are diverse and may be overlooked. We aimed to evaluate the incidence of these manifestations.
Methods: Patients with ROHHAD syndrome reported before and after 2019 were divided into Groups 1 and 2. Patients who were diagnosed at three regional hospitals in China were included in Group 3. We collected the age of each specific term of the ROHHAD (neurogenic tumor, NET) acronym and the detailed manifestations of each term, and compared them among the three groups.
Results: A total of 16 patients were diagnosed within the 2-year period. Two had neurogenic tumors and cognitive and behavioral abnormalities before developing rapid obesity. At least 93.8% of the patients had ≥ 4 symptoms of autonomic dysregulation. When comparing autonomic dysregulation among Groups 1–3, the rates of cardiovascular manifestations were NA vs. 12.8% vs. 81.2%; gastrointestinal disturbances were 11.4% vs. 8.5% vs. 62.5%; strabismus was 25.7% vs. 12.8% vs. 62.5%; sleep disturbance was NA vs. 6.4% vs. 50.0%; and abnormal pain threshold was NA vs. 10.6% vs. 25.0% (all p<0.05). The rates of cognitive and behavioral abnormalities were NA vs 29.8% and 87.5% (p<0.01).
Conclusions: Rapid-onset obesity is not always the first sign of ROHHAD syndrome. Higher rates of autonomic dysregulation and cognitive and behavioral abnormalities with multiple manifestations of autonomic dysregulation coexisted in our cohort, indicating that evaluations of autonomic function and the limbic system should be strengthened when assessing this condition.
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time zones and/or worked night shifts during the month before the study. All participants completed screening questionnaires including Pittsburgh Sleep Quality Index (PSQI), Horne-Östberg (HÖ) and Munich chronotype. Table 1 Participant
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-prandial responses, glucose homeostasis and insulin sensitivity ( 10 , 11 , 12 ). The SCN clock can synchronise peripheral clocks via a combination of neuronal, endocrine and behavioural pathways (e.g. the overt daily sleep–wake and feed–fast cycles) ( 13 ). Of
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, and sleep disorders were also included. Detailed measurement processes of these variables are publicly available at www.cdc.gov/nchs/nhanes/ . Statistical analysis In descriptive analysis, data description and statistical analysis were based
Chronic Disease Epidemiology Laboratory Pennington Biomedical Research Center, Baton Rouge, Louisiana, USA
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(using a validated food frequency questionnaire (FFQ) ( 18 )) and routine activities (indoor and outdoor activities, screening watching time and sleep duration). All mother–child pairs underwent a physical examination. Using the standardized protocol
Centre for Biological Timing, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK
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Diabetes, Endocrinology and Metabolism Centre, Manchester University NHS Foundation Trust, NIHR Manchester Biomedical Research Centre, Manchester Academic Health Science Centre, Manchester, UK
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Oxford Liver Unit, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital, UK
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NIHR Oxford Health Biomedical Research Centre, and NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford, UK
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NIHR Oxford Health Biomedical Research Centre, and NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, Oxford, UK
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.87 (74.65) Sleep duration (h) 7.05 (1.02) 6.92 (1.22) 6.69 (1.48) Chronotype (%) Morning 23.37 24.5 19.39 Intermediate 58.76 56.04 49.65 Evening 7.97 8.66 16.87 Ethnicity
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Laboratory of Biometry, University of Thessaly, Volos, Greece
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Division of Pneumology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
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significantly higher cortisol levels or prolactin levels after physical exercise at an altitude of approximately 5000 m. The effect of disturbed sleep due to periodic breathing at high altitudes would also be conceivable in terms of the change in stress axes
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Department of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands
Endo-ERN European Reference Network on Rare endocrine conditions
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Endo-ERN European Reference Network on Rare endocrine conditions
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Division of Endocrinology and Metabolism, Center for Clinical, Experimental Surgery and Translational Research, Biomedical Research Foundation of the Academy of Athens, Athens, Greece
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heterogeneous between patients ( 10 , 11 ). Children with suprasellar tumors are more prone to develop HD than adults ( 12 ). Chronic fatigue and sleep disorders may both impact school performance and bonding with peers ( 13 ). Since children are still under
