1,110 results on '"Main, Katharina"'
Search Results
2. Maternal phthalate exposure during pregnancy and testis function of young adult sons
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Henriksen, Louise Scheutz, Frederiksen, Hanne, Jørgensen, Niels, Juul, Anders, Skakkebæk, Niels E., Toppari, Jorma, Petersen, Jørgen Holm, and Main, Katharina M.
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- 2023
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3. Environmental factors in declining human fertility
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Skakkebæk, Niels E., Lindahl-Jacobsen, Rune, Levine, Hagai, Andersson, Anna-Maria, Jørgensen, Niels, Main, Katharina M., Lidegaard, Øjvind, Priskorn, Lærke, Holmboe, Stine A., Bräuner, Elvira V., Almstrup, Kristian, Franca, Luiz R., Znaor, Ariana, Kortenkamp, Andreas, Hart, Roger J., and Juul, Anders
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- 2022
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4. Brain tumours result in sleep disorders in children and adolescents
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Pickering, Line, Main, Katharina M., Sehested, Astrid, Mathiasen, René, Feldt-Rasmussen, Ulla, Klose, Marianne, Kotagal, Suresh, and Jennum, Poul J.
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- 2021
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5. Growth and Adult Height Attainment in Danish Transgender Adolescents Treated with GnRH Analog and Sex Hormones
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Norup, Pernille Badsberg, primary, Haahr, Mette Ewers, additional, Christiansen, Peter, additional, Aksglaede, Lise, additional, Cleemann, Line, additional, Johannsen, Trine Holm, additional, Juul, Anders, additional, and Main, Katharina M, additional
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- 2024
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6. Enhanced identification of endocrine disruptors through integration of science-based regulatory practices and innovative methodologies: The MERLON Project
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Svingen, Terje, primary, Andersson, Anna-Maria, additional, Angelova, Julianna, additional, Axelstad, Marta, additional, Bakker, Julie, additional, Baumann, Lisa, additional, Beronius, Anna, additional, Bouftas, Nora, additional, Chalmel, Frederic, additional, Christiansen, Sofie, additional, Cornil, Charlotte, additional, Damdimopoulou, Pauliina, additional, Deepika, Deepika, additional, Dollé, Martijn E. T., additional, Draskau, Monica Kam, additional, Fischer, Margit Bistrup, additional, Hagen, Casper P., additional, Hessel, Ellen, additional, Holmer, Marie Louise, additional, Hughes, Samantha, additional, Jensen, Genon, additional, Johansson, Hanna Katarina Lilith, additional, Juul, Anders, additional, Kumar, Vikas, additional, Kumar, Saurav, additional, Lardenois, Aurélie, additional, Main, Katharina M., additional, Mazaud-Guittot, Severine, additional, Moe, S. Jannicke, additional, Mola, Gylli, additional, Parent, Anne-Simone, additional, Pineda, Rafael, additional, Rolland, Antoine, additional, Rosenmai, Anna Kjerstine, additional, Song, You, additional, Suglia, Antonio, additional, Tena-Sempere, Manuel, additional, Wehrli, Lydia, additional, Zilliacus, Johanna, additional, and van Duursen, Majorie, additional
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- 2024
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7. The epidemiology of cryptorchidism and potential risk factors, including endocrine disrupting chemicals
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Holmboe, Stine A., primary, Beck, Astrid L., additional, Andersson, Anna-Maria, additional, Main, Katharina M., additional, Jørgensen, Niels, additional, Skakkebæk, Niels E., additional, and Priskorn, Lærke, additional
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- 2024
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8. Anogenital distance in a cohort of 169 infant boys with uni- or bilateral cryptorchidism including 18 boys with vanishing testes
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Cortes, Dina, primary, Fischer, Margit Bistrup, additional, Hildorf, Andrea E, additional, Clasen-Linde, Erik, additional, Hildorf, Simone, additional, Juul, Anders, additional, Main, Katharina M, additional, and Thorup, Jorgen, additional
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- 2024
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9. The influence of prenatal exposure to phthalates on subsequent male growth and body composition in adolescence
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Berman, Ye'elah E., Doherty, Dorota A., Main, Katharina M., Frederiksen, Hanne, Keelan, Jeffrey A., Newnham, John P., and Hart, Roger J.
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- 2021
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10. Does height and IGF-I determine pubertal timing in girls?
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Upners, Emmie N., Busch, Alexander S., Almstrup, Kristian, Petersen, Jørgen H., Assens, Maria, Main, Katharina M., Jensen, Rikke B., and Juul, Anders
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- 2021
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11. The epidemiology of cryptorchidism and potential risk factors, including endocrine disrupting chemicals
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Holmboe, Stine A., Beck, Astrid L., Andersson, Anna Maria, Main, Katharina M., Jørgensen, Niels, Skakkebæk, Niels E., Priskorn, Lærke, Holmboe, Stine A., Beck, Astrid L., Andersson, Anna Maria, Main, Katharina M., Jørgensen, Niels, Skakkebæk, Niels E., and Priskorn, Lærke
- Abstract
Congenital cryptorchidism, also known as undescended testis, is the condition where one or both testes are not in place in the scrotum at birth and is one of the most common birth defects in boys. Temporal trends and geographic variation in the prevalence of cryptorchidism from 1% to 9% have been reported in prospective cohort studies. The testes develop in the abdominal cavity and descend to the scrotum in two phases, which should be completed by gestational week 35. Thus, the risk of cryptorchidism is higher in preterm boys. In many cases a spontaneous descent occurs during the first months of life during the surge of gonadotropins and testosterone. If not, the testis is usually brought down to the scrotum, typically by surgery, to increase future fertility chances and facilitate cancer surveillance. The increasing frequency of impaired semen quality and testicular cancer, with which cryptorchidism is associated, represents a concern for male reproductive health in general and a need to understand its risk factors. The risk of cryptorchidism is closely related to gestational factors (preterm birth, low birth weight and intrauterine growth restriction), and especially maternal smoking seems to be a risk factor. Evidence is accumulating that the increasing prevalence of cryptorchidism is also related to prenatal exposure to environmental chemicals, including endocrine disrupting compounds. This association has been corroborated in rodents and supported by ecological studies. Conducting human studies to assess the effect of endocrine disrupting chemicals and their interactions is, however, challenged by the widespread concomitant exposure of all humans to a wide range of chemicals, the combined effect of which and their interactions are highly complex., Congenital cryptorchidism, also known as undescended testis, is the condition where one or both testes are not in place in the scrotum at birth and is one of the most common birth defects in boys. Temporal trends and geographic variation in the prevalence of cryptorchidism from 1% to 9% have been reported in prospective cohort studies. The testes develop in the abdominal cavity and descend to the scrotum in two phases, which should be completed by gestational week 35. Thus, the risk of cryptorchidism is higher in preterm boys. In many cases a spontaneous descent occurs during the first months of life during the surge of gonadotropins and testosterone. If not, the testis is usually brought down to the scrotum, typically by surgery, to increase future fertility chances and facilitate cancer surveillance. The increasing frequency of impaired semen quality and testicular cancer, with which cryptorchidism is associated, represents a concern for male reproductive health in general and a need to understand its risk factors. The risk of cryptorchidism is closely related to gestational factors (preterm birth, low birth weight and intrauterine growth restriction), and especially maternal smoking seems to be a risk factor. Evidence is accumulating that the increasing prevalence of cryptorchidism is also related to prenatal exposure to environmental chemicals, including endocrine disrupting compounds. This association has been corroborated in rodents and supported by ecological studies. Conducting human studies to assess the effect of endocrine disrupting chemicals and their interactions is, however, challenged by the widespread concomitant exposure of all humans to a wide range of chemicals, the combined effect of which and their interactions are highly complex.
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- 2024
12. Long-term effects of high-dose systemic corticosteroids on growth and bone mineral density in patients treated for childhood interstitial lung disease (chILD)
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Ring, Astrid Madsen, Buchvald, Frederik F, Main, Katharina M, Oturai, Peter, Nielsen, Kim G, Ring, Astrid Madsen, Buchvald, Frederik F, Main, Katharina M, Oturai, Peter, and Nielsen, Kim G
- Abstract
BACKGROUND: Children's interstitial lung disease (chILD) is a rare and potentially life-threatening condition. For many chILD conditions, systemic corticosteroids (sCCS) are considered the primary treatment despite a broad spectrum of potential side effects.AIM: We aimed to determine the long-term effects of sCCS treatment on growth, bone mineral density (BMD), and body composition after chILD.MATERIALS AND METHODS: This descriptive cross-sectional single-center study included patients diagnosed with chILD before the age of 18 years treated with sCCS in the period 1998-2020. Dual-energy X-ray absorptiometry, anthropometric measurements, bone age determination, and blood tests were performed in 53 (55% males) of 89 eligible patients.RESULTS: Median (range) age was 19.3 (6.4;30.7 years). Participants received a median (range) cumulative sCCS dose of 1144 (135; 6178) mg over a 2.0 (0.1; 13.8) years period and latest dose was administered 11.7 (1.2; 19.6) years before follow-up. Mean delta height (height standard deviation scores [SDS] - target height SDS) was reduced at sCCS treatment initiation (mean: -0.55, 95% confidence interval [CI]: -0.91; -0.20, p < .005) and at sCCS treatment cessation (mean: -0.86, 95% CI:-1.22; -0.51, p < .001), but normalized in the majority at follow-up (mean: -0.29, 95% CI:-0.61; 0.03, p = .07). Mean (SD) BMD z-score for the spine and whole body was -0.34 (1.06) and 0.52 (1.13), with no significant correlation to sCCS dose. Excess body fat (>30% in females, >25% in males) was found in 58% of patients.CONCLUSION: Long-term treatment with sCCS did not cause significant long-term reduction of height but showed subtle effects on fat mass percentage and BMD. Given the severity of chILD, the observed long-term effects of sCCS on growth and BMD appear acceptable.
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- 2024
13. Blood pressure and lipid profiles in children born after ART with frozen embryo transfer
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Asserhøj, Louise Laub, Mizrak, Ikram, Lebech Kjaer, Anna Sophie, Clausen, Tine Dalsgaard, Hoffmann, Eva R, Greisen, Gorm, Main, Katharina M, Madsen, Per Lav, Pinborg, Anja, Jensen, Rikke Beck, Asserhøj, Louise Laub, Mizrak, Ikram, Lebech Kjaer, Anna Sophie, Clausen, Tine Dalsgaard, Hoffmann, Eva R, Greisen, Gorm, Main, Katharina M, Madsen, Per Lav, Pinborg, Anja, and Jensen, Rikke Beck
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STUDY QUESTION Are blood pressure (BP) and lipid profiles different between children conceived after ART with frozen embryo transfer (FET), fresh embryo transfer (fresh-ET), and natural conception (NC)? SUMMARY ANSWER Girls conceived after FET had significantly higher systolic BP and heart rate compared with girls born after fresh-ET; boys conceived after FET had a slightly more favourable lipid profile compared with boys born after fresh-ET and NC. WHAT IS KNOWN ALREADY Children conceived after ART with FET are more often born large for gestational age (LGA). LGA in general increases the risk of obesity, diabetes, and cardiovascular disease later in life. Studies on mice and humans on the whole ART population have raised concerns about premature vascular ageing and higher BP. The cardiovascular health of children born after FET is scarcely explored and the results are diverging. STUDY DESIGN, SIZE, DURATION This study was part of the cohort study ‘Health in Childhood following Assisted Reproductive Technology’ (HiCART), which included 606 singletons (292 boys) born between December 2009 and December 2013: 200 children were conceived after FET; 203 children were conceived after fresh-ET; and 203 children were conceived naturally and matched for birth year and sex. The study period lasted from January 2019 to September 2021. PARTICIPANTS/MATERIALS, SETTING, METHODS The included children were 7–10 years of age at examination and underwent a clinical examination with anthropometric measurements, pubertal staging, and BP measurement. Additionally, a fasting blood sample was collected and analysed for cholesterol, low-density lipoproteins (LDL), high-density lipoproteins (HDL), and triglycerides. Systolic and diastolic BP were converted to standard deviation scores (SDS) using an appropriate reference and accounting for height (SDS) of the child. The three study groups were compared pairwise using a univariate linea, STUDY QUESTION: Are blood pressure (BP) and lipid profiles different between children conceived after ART with frozen embryo transfer (FET), fresh embryo transfer (fresh-ET), and natural conception (NC)?SUMMARY ANSWER: Girls conceived after FET had significantly higher systolic BP and heart rate compared with girls born after fresh-ET; boys conceived after FET had a slightly more favourable lipid profile compared with boys born after fresh-ET and NC.WHAT IS KNOWN ALREADY: Children conceived after ART with FET are more often born large for gestational age (LGA). LGA in general increases the risk of obesity, diabetes, and cardiovascular disease later in life. Studies on mice and humans on the whole ART population have raised concerns about premature vascular ageing and higher BP. The cardiovascular health of children born after FET is scarcely explored and the results are diverging.STUDY DESIGN SIZE DURATION: This study was part of the cohort study 'Health in Childhood following Assisted Reproductive Technology' (HiCART), which included 606 singletons (292 boys) born between December 2009 and December 2013: 200 children were conceived after FET; 203 children were conceived after fresh-ET; and 203 children were conceived naturally and matched for birth year and sex. The study period lasted from January 2019 to September 2021.PARTICIPANTS/MATERIALS SETTING METHODS: The included children were 7-10 years of age at examination and underwent a clinical examination with anthropometric measurements, pubertal staging, and BP measurement. Additionally, a fasting blood sample was collected and analysed for cholesterol, low-density lipoproteins (LDL), high-density lipoproteins (HDL), and triglycerides. Systolic and diastolic BP were converted to standard deviation scores (SDS) using an appropriate reference and accounting for height (SDS) of the child. The three study groups were compared pairwise using a univariate linear regression model. Mean dif
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- 2024
14. Higher serum concentrations of PFAS among pesticide exposed female greenhouse workers
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Andersen, Helle Raun, Grandjean, Philippe, Main, Katharina M., Jensen, Tina Kold, Nielsen, Flemming, Andersen, Helle Raun, Grandjean, Philippe, Main, Katharina M., Jensen, Tina Kold, and Nielsen, Flemming
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Background Long-chained poly- and perfluoroalkyl substances (PFAS) have been used in pesticide formulations but their potential impact on human PFAS exposure has not been addressed. Objectives To investigate if occupationally pesticide exposed female greenhouse workers in Denmark had higher serum concentrations of PFAS than a comparable background population. Methods Serum samples collected between 1996 and 2001 from 181 pregnant greenhouse workers and a contemporary urban population of 48 pregnant women were analyzed for eight PFAS: perfluorooctane sulfonate (PFOS), perfluorohexane sulfonic acid (PFHxS), perfluorooctanoic acid (PFOA), perfluorononanoic acid (PFNA), perfluorodecanoic acid (PFDA), perfluorooctane sulfonamide (FOSA), N-methyl perfluorooctane sulfonamido acetic acid (N-MeFOSAA), and N-ethyl perfluorooctane sulfonamido acetic acid (N-EtFOSAA). Results The concentrations of PFOA, PFOS, and the PFOS precursors N-MeFOSAA, N-EtFOSAA, and FOSA were higher, and PFHxS was lower, among greenhouse workers than the comparison population. After adjusting for age and parity, serum concentrations of N-MeFOSAA, N-EtFOSAA, and FOSA were 2-to-3-fold higher, and the major PFAS in serum, PFOS and PFOA, were 30–50 % higher among the greenhouse workers. Conclusion Higher serum concentrations of some legacy PFAS among female greenhouse workers indicate that exposure to pesticides is a potential pathway of exposure. Although PFAS use in pesticide applications may appear to be a minor source of exposure for the general population, this pathway deserves attention in risk assessment., Background: Long-chained poly- and perfluoroalkyl substances (PFAS) have been used in pesticide formulations but their potential impact on human PFAS exposure has not been addressed. Objectives: To investigate if occupationally pesticide exposed female greenhouse workers in Denmark had higher serum concentrations of PFAS than a comparable background population. Methods: Serum samples collected between 1996 and 2001 from 181 pregnant greenhouse workers and a contemporary urban population of 48 pregnant women were analyzed for eight PFAS: perfluorooctane sulfonate (PFOS), perfluorohexane sulfonic acid (PFHxS), perfluorooctanoic acid (PFOA), perfluorononanoic acid (PFNA), perfluorodecanoic acid (PFDA), perfluorooctane sulfonamide (FOSA), N-methyl perfluorooctane sulfonamido acetic acid (N-MeFOSAA), and N-ethyl perfluorooctane sulfonamido acetic acid (N-EtFOSAA). Results: The concentrations of PFOA, PFOS, and the PFOS precursors N-MeFOSAA, N-EtFOSAA, and FOSA were higher, and PFHxS was lower, among greenhouse workers than the comparison population. After adjusting for age and parity, serum concentrations of N-MeFOSAA, N-EtFOSAA, and FOSA were 2-to-3-fold higher, and the major PFAS in serum, PFOS and PFOA, were 30–50 % higher among the greenhouse workers. Conclusion: Higher serum concentrations of some legacy PFAS among female greenhouse workers indicate that exposure to pesticides is a potential pathway of exposure. Although PFAS use in pesticide applications may appear to be a minor source of exposure for the general population, this pathway deserves attention in risk assessment.
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- 2024
15. Anogenital distance in a cohort of 169 infant boys with uni- or bilateral cryptorchidism including 18 boys with vanishing testes
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Cortes, Dina, Fischer, Margit Bistrup, Hildorf, Andrea E., Clasen-Linde, Erik, Hildorf, Simone, Juul, Anders, Main, Katharina M., Thorup, Jorgen, Cortes, Dina, Fischer, Margit Bistrup, Hildorf, Andrea E., Clasen-Linde, Erik, Hildorf, Simone, Juul, Anders, Main, Katharina M., and Thorup, Jorgen
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STUDY QUESTION: Do different boys with different types of cryptorchidism exhibit different anogenital distances (AGDs)?SUMMARY ANSWER: Length of AGD seemed to differ in different groups of patients with cryptorchidism.WHAT IS KNOWN ALREADY: AGD, which is used as an indicator of prenatal androgen action, tends to be shorter in boys with cryptorchidism compared to unaffected boys. Shorter AGDs have also been reported in boys with hypospadias, in men with poor semen quality, and in men with testicular cancer.STUDY DESIGN, SIZE, DURATION: A prospective descriptive cohort study was performed using data from consecutively selected boys with cryptorchidism (n = 169) operated in a single center over a period of 3 years (September 2019 to October 2022).PARTICIPANTS/MATERIALS, SETTING, METHODS: AGD was measured in 169 infant boys, at 3 to 26 months of age, during anesthesia with a vernier caliper measuring the distance from the anus to the base of the scrotum (AGDAS) and from the anus to the anterior base of the penis (AGDAP) in two body positions according to the methods by 'The Infant Development and the Environment Study' (TIDES) and 'Cambridge Baby Growth Study', resulting in four mean values per patient (TIDES AGDAS/AP and Cambridge AGDAS/AP). Normal values for AGD by age were set by our hospital Department of Growth and Reproduction based on a large cohort of healthy infant boys (n = 1940). Testicular biopsies were performed at orchidopexy as a clinical routine. The germ cell number (G/T) and type Ad spermatogonia number (AdS/T) per cross-sectional tubule of at least 100 and 250 tubules, respectively were measured and related to normal samples. Blood samples were obtained by venipuncture for measuring serum LH, FSH, and inhibin B. They were analyzed in our hospital Department of Growth and Reproduction where the normal reference was also established. Correlations between the four mean AGD measurements for each boy were evaluated by Spearma
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- 2024
16. Differentiation of Idiopathic Central Precocious Puberty From Premature Thelarche Using Principal Component Analysis
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Cleemann Wang, Amanda, Hagen, Casper P., Johannsen, Trine Holm, Madsen, Andre Greger, Cleemann, Line Hartvig, Christiansen, Peter, Main, Katharina M., Juul, Anders, Jensen, Rikke Beck, Cleemann Wang, Amanda, Hagen, Casper P., Johannsen, Trine Holm, Madsen, Andre Greger, Cleemann, Line Hartvig, Christiansen, Peter, Main, Katharina M., Juul, Anders, and Jensen, Rikke Beck
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Context Nonprogressive premature thelarche (PT) is a self-limiting variant of early puberty, while idiopathic central precocious puberty (ICPP) is a disorder that causes progressive development of secondary sexual characteristics and often requires treatment. The diagnostic differentiation between these conditions is important but can be challenging since they often both initially present clinically with isolated breast development. Objective To describe relevant clinical variables in a large cohort of girls referred for early puberty, and to evaluate clinical and biochemical parameters to distinguish between girls with ICPP and PT. Methods This retrospective study included 1361 girls referred with signs of early puberty to a single, tertiary center from 2009 to 2019. We evaluated clinical presentation, medical history, growth velocity, bone age, hormonal serum concentrations, and gonadotropin-releasing hormone (GnRH) test results. Results Central precocious puberty was diagnosed in 11% (ICPP: n = 143, organic CPP: n = 11) girls, whereas 8% (n = 91 girls) presented with PT. Receiver operating characteristic (ROC) analysis showed several biochemical and anthropometric markers as potential parameters to differentiate between ICPP and PT; however, none were individually adequate. Principal component analysis (PCA)–derived clinical and hormone profiles could predict girls with ICPP from girls with PT with a specificity of 90% and sensitivity of 84%, outperforming any single marker. Conclusion Differentiation of girls with ICPP and PT can be supported by individual clinical and biochemical parameters. However, dimension reduction of clinical and hormonal profiles by PCA improved the diagnostic value, which in the future may support the diagnostic process as a supplement to the GnRH test in evaluation of pubertal disorders., CONTEXT: Nonprogressive premature thelarche (PT) is a self-limiting variant of early puberty, while idiopathic central precocious puberty (ICPP) is a disorder that causes progressive development of secondary sexual characteristics and often requires treatment. The diagnostic differentiation between these conditions is important but can be challenging since they often both initially present clinically with isolated breast development. OBJECTIVE: To describe relevant clinical variables in a large cohort of girls referred for early puberty, and to evaluate clinical and biochemical parameters to distinguish between girls with ICPP and PT. METHODS: This retrospective study included 1361 girls referred with signs of early puberty to a single, tertiary center from 2009 to 2019. We evaluated clinical presentation, medical history, growth velocity, bone age, hormonal serum concentrations, and gonadotropin-releasing hormone (GnRH) test results. RESULTS: Central precocious puberty was diagnosed in 11% (ICPP: n = 143, organic CPP: n = 11) girls, whereas 8% (n = 91 girls) presented with PT. Receiver operating characteristic (ROC) analysis showed several biochemical and anthropometric markers as potential parameters to differentiate between ICPP and PT; however, none were individually adequate. Principal component analysis (PCA)-derived clinical and hormone profiles could predict girls with ICPP from girls with PT with a specificity of 90% and sensitivity of 84%, outperforming any single marker. CONCLUSION: Differentiation of girls with ICPP and PT can be supported by individual clinical and biochemical parameters. However, dimension reduction of clinical and hormonal profiles by PCA improved the diagnostic value, which in the future may support the diagnostic process as a supplement to the GnRH test in evaluation of pubertal disorders.
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- 2024
17. Cardiovascular autonomic nervous function in children conceived by assisted reproductive technology with frozen or fresh embryo transfer
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Mizrak, Ikram, Lund, Morten A.V., Landgrebe, Ann V., Asserhøj, Louise L., Holstein-Rathlou, Niels Henrik, Greisen, Gorm, Clausen, Tine D., Main, Katharina M., Vejlstrup, Niels G., Jensen, Rikke B., Pinborg, Anja, Madsen, Per L., Mizrak, Ikram, Lund, Morten A.V., Landgrebe, Ann V., Asserhøj, Louise L., Holstein-Rathlou, Niels Henrik, Greisen, Gorm, Clausen, Tine D., Main, Katharina M., Vejlstrup, Niels G., Jensen, Rikke B., Pinborg, Anja, and Madsen, Per L.
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As a result of epigenetic changes, children conceived by assisted reproduction may be at risk of premature cardiovascular aging with notably increased blood pressures. Their cardiovascular autonomic nervous function is unknown. Therefore, this study investigated the cardiovascular autonomic nervous function in 8–12-yr-old children (51% girls) conceived naturally (n = 33) or by assisted reproduction with frozen (n = 34) or fresh (n = 38) embryo transfer by evaluating heart rate variability, during rest; from provocation maneuvers; and from baroreflex function. Heart rate and blood pressure response to provocation maneuvers and baroreflex function were comparable between children conceived naturally or by assisted reproduction. The mean RR-interval and high-frequency component of heart rate variability were lower in children conceived by assisted reproduction than in children conceived naturally. Children conceived by fresh embryo transfer had ∼17% lower heart rate-corrected standard deviation of normal-to-normal R-R intervals; ∼22% lower heart rate-corrected square root of the mean of the squared difference between successive R-R intervals; and ∼37% higher low-frequency/high-frequency ratio than naturally conceived children. Children conceived by assisted reproduction still had lower heart rate variability and vagal modulation than naturally conceived children after adjustment for confounders. Thus, these results raise the possibility of sympathetic predominance in children conceived by assisted reproduction. Therefore, it is important to reproduce these results in larger and older cohorts as sympathetic predominance relates with cardiovascular and metabolic diseases., As a result of epigenetic changes, children conceived by assisted reproduction may be at risk of premature cardiovascular aging with notably increased blood pressures. Their cardiovascular autonomic nervous function is unknown. Therefore, this study investigated the cardiovascular autonomic nervous function in 8-12-yr-old children (51% girls) conceived naturally (n = 33) or by assisted reproduction with frozen (n = 34) or fresh (n = 38) embryo transfer by evaluating heart rate variability, during rest; from provocation maneuvers; and from baroreflex function. Heart rate and blood pressure response to provocation maneuvers and baroreflex function were comparable between children conceived naturally or by assisted reproduction. The mean RR-interval and high-frequency component of heart rate variability were lower in children conceived by assisted reproduction than in children conceived naturally. Children conceived by fresh embryo transfer had ∼17% lower heart rate-corrected standard deviation of normal-to-normal R-R intervals; ∼22% lower heart rate-corrected square root of the mean of the squared difference between successive R-R intervals; and ∼37% higher low-frequency/high-frequency ratio than naturally conceived children. Children conceived by assisted reproduction still had lower heart rate variability and vagal modulation than naturally conceived children after adjustment for confounders. Thus, these results raise the possibility of sympathetic predominance in children conceived by assisted reproduction. Therefore, it is important to reproduce these results in larger and older cohorts as sympathetic predominance relates with cardiovascular and metabolic diseases.NEW & NOTEWORTHY We observed that children conceived by assisted reproductive technology (both frozen and fresh embryo transfer) had lowered heart rate variability during rest as compared with children conceived naturally. During physiological stress maneuvers, however, the cardiovascular autonomi
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- 2024
18. A common deletion in the growth hormone receptor gene (d3-GHR) in the offspring is related to maternal placental GH levels during pregnancy
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Jensen, Rikke Beck, Boas, Malene, Nielsen, John E., Maroun, Lisa Leth, Jørgensen, Anne, Larsen, Torben, Main, Katharina M., and Juul, Anders
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- 2020
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19. Long‐term effects of high‐dose systemic corticosteroids on growth and bone mineral density in patients treated for childhood interstitial lung disease (chILD)
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Ring, Astrid Madsen, primary, Buchvald, Frederik F., additional, Main, Katharina M., additional, Oturai, Peter, additional, and Nielsen, Kim G., additional
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- 2024
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20. Insights into the Psychiatric Morbidity Spectrum in Congenital Adrenal Hyperplasia:A Nationwide Register-Based Population Study of Hospital Diagnoses and Prescribed Medication
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Lind-Holst, Marie, primary, Hansen, Dorte, additional, Main, Katharina M., additional, Juul, Anders, additional, Andersen, Marianne S, additional, Dunøe, Morten, additional, Rasmussen, Åse Krogh, additional, Jørgensen, Niels, additional, Gravholt, Claus Højbjerg, additional, and Berglund, Agnethe, additional
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- 2024
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21. Higher serum concentrations of PFAS among pesticide exposed female greenhouse workers
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Andersen, Helle Raun, primary, Grandjean, Philippe, additional, Main, Katharina M., additional, Jensen, Tina Kold, additional, and Nielsen, Flemming, additional
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- 2024
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22. Cardiovascular autonomic nervous function in children conceived by assisted reproductive technology with frozen or fresh embryo transfer
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Mizrak, Ikram, primary, Lund, Morten A. V., additional, Landgrebe, Ann V., additional, Asserhøj, Louise L., additional, Holstein-Rathlou, Niels-Henrik, additional, Greisen, Gorm, additional, Clausen, Tine D., additional, Main, Katharina M., additional, Vejlstrup, Niels G., additional, Jensen, Rikke B., additional, Pinborg, Anja, additional, and Madsen, Per L., additional
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- 2023
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23. Associations between exposure to perfluoroalkyl substances and body fat evaluated by DXA and MRI in 109 adolescent boys
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Thomsen, Mathilde Lolk, Henriksen, Louise Scheutz, Tinggaard, Jeanette, Nielsen, Flemming, Jensen, Tina Kold, and Main, Katharina M.
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- 2021
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24. Central Precocious Puberty in two Boys with Prader-Willi Syndrome on Growth Hormone Treatment
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Monai, Elena, Johansen, Anders, Clasen-Linde, Erik, Meyts, Ewa Rajpert-De, Skakkebæk, Niels Erik, Main, Katharina M., Jørgensen, Anne, and Jensen, Rikke Beck
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- 2019
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25. Associations between male reproductive health and exposure to endocrine-disrupting chemicals
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Rodprasert, Wiwat, Main, Katharina M., Toppari, Jorma, and Virtanen, Helena E.
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- 2019
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26. Differentiation of Idiopathic Central Precocious Puberty From Premature Thelarche Using Principal Component Analysis.
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Wang, Amanda Cleemann, Hagen, Casper P, Johannsen, Trine Holm, Madsen, Andre Greger, Cleemann, Line Hartvig, Christiansen, Peter, Main, Katharina M, Juul, Anders, and Jensen, Rikke Beck
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PRECOCIOUS puberty ,DIFFERENTIAL diagnosis ,RECEIVER operating characteristic curves - Abstract
Context Nonprogressive premature thelarche (PT) is a self-limiting variant of early puberty, while idiopathic central precocious puberty (ICPP) is a disorder that causes progressive development of secondary sexual characteristics and often requires treatment. The diagnostic differentiation between these conditions is important but can be challenging since they often both initially present clinically with isolated breast development. Objective To describe relevant clinical variables in a large cohort of girls referred for early puberty, and to evaluate clinical and biochemical parameters to distinguish between girls with ICPP and PT. Methods This retrospective study included 1361 girls referred with signs of early puberty to a single, tertiary center from 2009 to 2019. We evaluated clinical presentation, medical history, growth velocity, bone age, hormonal serum concentrations, and gonadotropin-releasing hormone (GnRH) test results. Results Central precocious puberty was diagnosed in 11% (ICPP: n = 143, organic CPP: n = 11) girls, whereas 8% (n = 91 girls) presented with PT. Receiver operating characteristic (ROC) analysis showed several biochemical and anthropometric markers as potential parameters to differentiate between ICPP and PT; however, none were individually adequate. Principal component analysis (PCA)–derived clinical and hormone profiles could predict girls with ICPP from girls with PT with a specificity of 90% and sensitivity of 84%, outperforming any single marker. Conclusion Differentiation of girls with ICPP and PT can be supported by individual clinical and biochemical parameters. However, dimension reduction of clinical and hormonal profiles by PCA improved the diagnostic value, which in the future may support the diagnostic process as a supplement to the GnRH test in evaluation of pubertal disorders. [ABSTRACT FROM AUTHOR]
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- 2024
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27. THU187 Genotype-Phenotype Correlation, Clinical Presentation And Feminizing Surgery In Children With Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency: A Nationwide Multi-Center Study
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Lind-Holst, Marie, primary, Berglund, Agnethe, additional, Duno, Morten, additional, Hvistendahl, Gitte, additional, Fossum, Magdalena, additional, Juul, Anders, additional, Jørgensen, Niels, additional, Main, Katharina Maria, additional, Gravholt, Claus Hojbjerg, additional, and Hansen, Dorte, additional
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- 2023
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28. Sex‐independent timing of the onset of central puberty revealed by nocturnal luteinizing hormone concentrations
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Demir, And, primary, Hero, Matti, additional, Juul, Anders, additional, and Main, Katharina M., additional
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- 2023
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29. Differentiation of Idiopathic Central Precocious Puberty from Premature Thelarche using Principal Component Analysis
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Cleemann Wang, Amanda, primary, Hagen, Casper P, additional, Johannsen, Trine Holm, additional, Madsen, Andre Greger, additional, Hartvig Cleemann, Line, additional, Christiansen, Peter, additional, Main, Katharina M, additional, Juul, Anders, additional, and Beck Jensen, Rikke, additional
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- 2023
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30. A complex phenotype in a family with a pathogenic SOX3 missense variant
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Jelsig, Anne M., Diness, Birgitte R., Kreiborg, Sven, Main, Katharina M., Larsen, Vibeke A., and Hove, Hanne
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- 2018
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31. Determination of thyroid hormones in placenta using isotope-dilution liquid chromatography quadrupole time-of-flight mass spectrometry
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Li, Zhong-Min, Giesert, Florian, Vogt-Weisenhorn, Daniela, Main, Katharina Maria, Skakkebæk, Niels Erik, Kiviranta, Hannu, Toppari, Jorma, Feldt-Rasmussen, Ulla, Shen, Heqing, Schramm, Karl-Werner, and De Angelis, Meri
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- 2018
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32. Cryptorchidism and Maternal Alcohol Consumption during Pregnancy
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Damgaard, Ida N., Jensen, Tina K., Petersen, Jørgen H., Skakkebæk, Niels E., Toppari, Jorma, and Main, Katharina M.
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- 2007
33. Persistent Pesticides in Human Breast Milk and Cryptorchidism
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Damgaard, Ida N., Skakkebæk, Niels E., Toppari, Jorma, Virtanen, Helena E., Shen, Heqing, Schramm, Karl-Werner, Petersen, Jørgen H., Jensen, Tina K., and Main, Katharina M.
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- 2006
34. Human Breast Milk Contamination with Phthalates and Alterations of Endogenous Reproductive Hormones in Infants Three Months of Age
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Main, Katharina M., Mortensen, Gerda K., Kaleva, Marko M., Boisen, Kirsten A., Damgaard, Ida N., Chellakooty, Marla, Schmidt, Ida M., Suomi, Anne-Maarit, Virtanen, Helena E., Petersen, Jørgen H., Andersson, Anna-Maria, Toppari, Jorma, and Skakkebæk, Niels E.
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- 2006
35. Decrease in Anogenital Distance among Male Infants with Prenatal Phthalate Exposure
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Swan, Shanna H., Main, Katharina M., Liu, Fan, Stewart, Sara L., Kruse, Robin L., Calafat, Antonia M., Mao, Catherine S., Redmon, J. Bruce, Ternand, Christine L., Sullivan, Shannon, and Teague, J. Lynn
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- 2005
36. AMH and other markers of ovarian function in patients with Turner syndrome – a single center experience of transition from pediatric to gynecological follow up
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Hagen, Casper P., primary, Fischer, Margit Bistrup, additional, Mola, Gylli, additional, Mikkelsen, Theis Bech, additional, Cleemann, Line Hartvig, additional, Gravholt, Claus Højbjerg, additional, Viuff, Mette H., additional, Juul, Anders, additional, Pedersen, Anette Tønnes, additional, and Main, Katharina Maria, additional
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- 2023
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37. Long‐term opioid treatment and endocrine measures in chronic non‐cancer pain patients
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Diasso, Pernille D. K., primary, Abou‐Kassem, Dalia, additional, Nielsen, Susanne D., additional, Main, Katharina M., additional, Sjøgren, Per, additional, and Kurita, Geana P., additional
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- 2023
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38. Serum Insulin-like Factor 3, Testosterone, and LH in Experimental and Therapeutic Testicular Suppression
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Albrethsen, Jakob, primary, Østergren, Peter Busch, additional, Norup, Pernille Badsberg, additional, Sønksen, Jens, additional, Fode, Mikkel, additional, Kistorp, Caroline, additional, Nordsborg, Nikolai B, additional, Solheim, Sara Amalie, additional, Mørkeberg, Jakob, additional, Main, Katharina M, additional, and Juul, Anders, additional
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- 2023
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39. Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark: a retrospective, population-based study
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Berglund, Agnethe, primary, Ornstrup, Marie J., additional, Lind-Holst, Marie, additional, Dunø, Morten, additional, Bækvad-Hansen, Marie, additional, Juul, Anders, additional, Borch, Luise, additional, Jørgensen, Niels, additional, Rasmussen, Åse K., additional, Andersen, Marianne, additional, Main, Katharina M., additional, Hansen, Dorte, additional, and Gravholt, Claus H., additional
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- 2023
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40. Association of Endocrine Disrupting Chemicals With Male Reproductive Health
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Virtanen, Helena E., primary, Main, Katharina M., additional, and Toppari, Jorma, additional
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- 2019
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41. Anogenital distance as a phenotypic signature through infancy
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Priskorn, Lærke, Petersen, Jørgen H, Jørgensen, Niels, Kyhl, Henriette B, Andersen, Marianne S, Main, Katharina M, Andersson, Anna-Maria, Skakkebaek, Niels E, and Jensen, Tina K
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- 2018
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42. Exposure to Phthalates in European Children, Adolescents and Adults since 2005: A Harmonized Approach Based on Existing HBM Data in the HBM4EU Initiative
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Vogel, Nina, primary, Lange, Rosa, additional, Schmidt, Phillipp, additional, Rodriguez Martin, Laura, additional, Remy, Sylvie, additional, Springer, Andrea, additional, Puklová, Vladimíra, additional, Černá, Milena, additional, Rudnai, Péter, additional, Középesy, Szilvia, additional, Janasik, Beata, additional, Ligocka, Danuta, additional, Fábelová, Lucia, additional, Kolena, Branislav, additional, Petrovicova, Ida, additional, Jajcaj, Michal, additional, Eštóková, Milada, additional, Esteban-Lopez, Marta, additional, Castaño, Argelia, additional, Tratnik, Janja Snoj, additional, Stajnko, Anja, additional, Knudsen, Lisbeth E., additional, Toppari, Jorma, additional, Main, Katharina M., additional, Juul, Anders, additional, Andersson, Anna-Maria, additional, Jørgensen, Niels, additional, Frederiksen, Hanne, additional, Thomsen, Cathrine, additional, Sakhi, Amrit Kaur, additional, Åkesson, Agneta, additional, Hartmann, Christina, additional, Dewolf, Marie Christine, additional, Koppen, Gudrun, additional, Biot, Pierre, additional, Den Hond, Elly, additional, Voorspoels, Stefan, additional, Gilles, Liese, additional, Govarts, Eva, additional, Murawski, Aline, additional, Gerofke, Antje, additional, Weber, Till, additional, Rüther, Maria, additional, Gutleb, Arno C., additional, Guignard, Cedric, additional, Berman, Tamar, additional, Koch, Holger M., additional, and Kolossa-Gehring, Marike, additional
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- 2023
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43. Levels of persistent organic pollutants in breast milk samples representing Finnish and Danish boys with and without hypospadias
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Tysman, Marie, primary, Toppari, Jorma, additional, Main, Katharina M., additional, Adamsson, Annika, additional, Wohlfahrt-Veje, Christine, additional, Antignac, Jean-Philippe, additional, Le Bizec, Bruno, additional, Löyttyniemi, Eliisa, additional, Skakkebæk, Niels E., additional, and Virtanen, Helena E., additional
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- 2023
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44. Sex-independent timing of the onset of central puberty revealed by nocturnal luteinizing hormone concentrations
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Demir, And, Hero, Matti, Juul, Anders, Main, Katharina M., Demir, And, Hero, Matti, Juul, Anders, and Main, Katharina M.
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Objective We designed a longitudinal study to investigate the association between the ages of central pubertal activation and the appearance of clinical signs of puberty and determined total luteinizing hormone (LH) immunoreactivity in daytime- and nocturnal sleeptime-excreted urine samples. Patients and Measurements Thirty healthy volunteers (17 boys and 13 girls, aged 3.4–15.2 years and 4.3–14.3 years, respectively, at the beginning of the study) were included. Male and female subjects were followed for an average of 15 visits during 5.5 and 5.8 years on average, respectively. At each visit, subjects provided 24-h urine samples divided into nocturnal sleeptime and waketime portions according to the participant's sleep-and-wake rhythm. Total urinary LH (U-LH) concentrations were measured in duplicate by Delfia® IFMA (Wallac), which has been designed specifically to detect intact LH as well as the beta subunit and its core fragment, but not the human chorionic gonadotropin. Results The initial increases in nocturnal sleeptime total U-LH concentrations over the cutoff value of 0.7 IU/L occurred at around the same time (around 9–10 years of age) in both sexes, which could not be detected in waketime urine samples. The mean first age for the nocturnal sleeptime total U-LH concentrations to reach or surpass the cutoff was 10.7 years (range: 10.2–11.6 years) in boys and 11.8 years (range: 10.7–13.4 years) in girls, showing no statistically significant difference between the sexes (p = .15). The mean time span from the age at which sleeptime total U-LH concentration first exceeded the 0.7 IU/L level to observing pubertal stage 2 was 1.5 years in boys and 0.1 years in girls. Conclusions Findings in our population with a limited sample size suggest that the timing of central pubertal activation is a sex-independent phenomenon, which can be observed by monitoring the nocturnal sleeptime total LH concentrations in urine. The lag time, Objective: We designed a longitudinal study to investigate the association between the ages of central pubertal activation and the appearance of clinical signs of puberty and determined total luteinizing hormone (LH) immunoreactivity in daytime- and nocturnal sleeptime-excreted urine samples. Patients and Measurements: Thirty healthy volunteers (17 boys and 13 girls, aged 3.4–15.2 years and 4.3–14.3 years, respectively, at the beginning of the study) were included. Male and female subjects were followed for an average of 15 visits during 5.5 and 5.8 years on average, respectively. At each visit, subjects provided 24-h urine samples divided into nocturnal sleeptime and waketime portions according to the participant's sleep-and-wake rhythm. Total urinary LH (U-LH) concentrations were measured in duplicate by Delfia® IFMA (Wallac), which has been designed specifically to detect intact LH as well as the beta subunit and its core fragment, but not the human chorionic gonadotropin. Results: The initial increases in nocturnal sleeptime total U-LH concentrations over the cutoff value of 0.7 IU/L occurred at around the same time (around 9–10 years of age) in both sexes, which could not be detected in waketime urine samples. The mean first age for the nocturnal sleeptime total U-LH concentrations to reach or surpass the cutoff was 10.7 years (range: 10.2–11.6 years) in boys and 11.8 years (range: 10.7–13.4 years) in girls, showing no statistically significant difference between the sexes (p =.15). The mean time span from the age at which sleeptime total U-LH concentration first exceeded the 0.7 IU/L level to observing pubertal stage 2 was 1.5 years in boys and 0.1 years in girls. Conclusions: Findings in our population with a limited sample size suggest that the timing of central pubertal activation is a sex-independent phenomenon, which can be observed by monitoring the nocturnal sleeptime total LH concentrations in urine. The lag time from central pubertal activation of
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- 2023
45. Long-term opioid treatment and endocrine measures in chronic non-cancer pain patients
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Diasso, Pernille D.K., Abou-Kassem, Dalia, Nielsen, Susanne D., Main, Katharina M., Sjøgren, Per, Kurita, Geana P., Diasso, Pernille D.K., Abou-Kassem, Dalia, Nielsen, Susanne D., Main, Katharina M., Sjøgren, Per, and Kurita, Geana P.
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Background The prevalence of chronic non-cancer pain (CNCP) has increased dramatically the past decades, which combined with indiscriminate use of prescribed opioids has become a public health problem. Endocrine dysfunction may be a complication of long-term opioid treatment (L-TOT), but the evidence is limited. This study aimed at investigating the associations between L-TOT and endocrine measures in CNCP patients. Methods Cortisol (spot and after stimulation), thyrotropin (TSH), thyroxin (T4), insulin-like growth factor 1 (IGF-1), prolactin (PRL), 17-hydroxyprogesterone, androstenedione, dehydroepiandrosterone (DHEAS), sex hormone-binding globulin (SHBG), total testosterone (TT) and free testosterone (fT) were measured. Group comparisons were done between CNCP patients in L-TOT and controls as well as between patients on high- or low-dose morphine equivalents. Results Eighty-two CNCP patients (38 in L-TOT and 44 controls not receiving opioids) were included. Low TT (p = 0.004) and fT concentrations (p < 0.001), high SHBG (p = 0.042), low DEAS (p = 0.017) and low IGF-1 (p = 0.003) in men were found when comparing those in L-TOT to controls and high PRL (p = 0.018), low IGF-1 standard deviation score (SDS) (p = 0.006) along with a lesser, but normal cortisol response to stimulation (p = 0.016; p = 0.012) were found when comparing L-TOT to controls. Finally, a correlation between low IGF-1 levels and high opioid dose was observed (p < 0.001). Conclusions Our study not only supports previous findings but even more interestingly disclosed new associations. We recommend future studies to investigate endocrine effects of opioids in larger, longitudinal studies. In the meanwhile, we recommend monitoring endocrine function in CNCP patients when prescribing L-TOT. Significance This clinical study found associations between L-TOT, androgens, growth hormone and prolactin in patients with CNCP compared to controls., Background: The prevalence of chronic non-cancer pain (CNCP) has increased dramatically the past decades, which combined with indiscriminate use of prescribed opioids has become a public health problem. Endocrine dysfunction may be a complication of long-term opioid treatment (L-TOT), but the evidence is limited. This study aimed at investigating the associations between L-TOT and endocrine measures in CNCP patients. Methods: Cortisol (spot and after stimulation), thyrotropin (TSH), thyroxin (T4), insulin-like growth factor 1 (IGF-1), prolactin (PRL), 17-hydroxyprogesterone, androstenedione, dehydroepiandrosterone (DHEAS), sex hormone-binding globulin (SHBG), total testosterone (TT) and free testosterone (fT) were measured. Group comparisons were done between CNCP patients in L-TOT and controls as well as between patients on high- or low-dose morphine equivalents. Results: Eighty-two CNCP patients (38 in L-TOT and 44 controls not receiving opioids) were included. Low TT (p = 0.004) and fT concentrations (p < 0.001), high SHBG (p = 0.042), low DEAS (p = 0.017) and low IGF-1 (p = 0.003) in men were found when comparing those in L-TOT to controls and high PRL (p = 0.018), low IGF-1 standard deviation score (SDS) (p = 0.006) along with a lesser, but normal cortisol response to stimulation (p = 0.016; p = 0.012) were found when comparing L-TOT to controls. Finally, a correlation between low IGF-1 levels and high opioid dose was observed (p < 0.001). Conclusions: Our study not only supports previous findings but even more interestingly disclosed new associations. We recommend future studies to investigate endocrine effects of opioids in larger, longitudinal studies. In the meanwhile, we recommend monitoring endocrine function in CNCP patients when prescribing L-TOT. Significance: This clinical study found associations between L-TOT, androgens, growth hormone and prolactin in patients with CNCP compared to controls. The results support previous studies as well as
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- 2023
46. Serum LH/FSH ratios in 87 infants with differences of sex development
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Ljubicic, Marie Lindhardt, Johannsen, Trine Holm, Fischer, Margit Bistrup, Upners, Emmie N., Busch, Alexander S., Main, Katharina M., Andersson, Anna Maria, Hagen, Casper P., Juul, Anders, Ljubicic, Marie Lindhardt, Johannsen, Trine Holm, Fischer, Margit Bistrup, Upners, Emmie N., Busch, Alexander S., Main, Katharina M., Andersson, Anna Maria, Hagen, Casper P., and Juul, Anders
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The ratio between luteinizing hormone (LH) and follicle-stimulating hormone (FSH) has previously been described as an excellent marker of sex in healthy infants. However, LH/FSH remains not fully described in patients with differences of sex development (DSD). The aim was therefore to describe LH/FSH in infants with DSD. This was a retrospective study of DSD patients, all aged 0–1.2 years. In total, 87 infants with DSD and at least one serum sample per infant were included. Longitudinal samples from single patients were included whenever possible. Serum LH/FSH ratios in these patients were plotted against recently published age-related and sex-dimorphic cutoffs. Overall, LH/FSH sometimes corresponded to assigned sex without any obvious pattern in terms of diagnoses. LH/FSH corresponded to the biological sex in all patients with Turner or Klinefelter syndrome. In patients with 46,XX or 46,XY DSD (except congenital adrenal hyperplasia (CAH)), the ratios did not correspond to the assigned sex in all cases and were interchangeably within the male and female range. In patients with CAH, the ratio corresponded to biological sex (based on sex chromosomes) in some cases but also ranged across the cutoffs. In the 15 patients with 45,X/46,XY mosaicism, the LH/FSH ratios corresponded to the assigned sex in all cases (12 were raised as males, 3 as females) and at all time points in cases with multiple sampling. While this study describes LH/FSH in infants with DSD, the exact clinical role of the ratio in the management of these patients remains to be further elucidated., The ratio between luteinizing hormone (LH) and follicle-stimulating hormone (FSH) has previously been described as an excellent marker of sex in healthy infants. However, LH/ FSH remains not fully described in patients with differences of sex development (DSD). The aim was therefore to describe LH/FSH in infants with DSD. This was a retrospective study of DSD patients, all aged 0–1.2 years. In total, 87 infants with DSD and at least one serum sample per infant were included. Longitudinal samples from single patients were included whenever possible. Serum LH/FSH ratios in these patients were plotted against recently published age-related and sex-dimorphic cutoffs. Overall, LH/FSH sometimes corresponded to assigned sex without any obvious pattern in terms of diagnoses. LH/FSH corresponded to the biological sex in all patients with Turner or Klinefelter syndrome. In patients with 46,XX or 46,XY DSD (except congenital adrenal hyperplasia (CAH)), the ratios did not correspond to the assigned sex in all cases and were interchangeably within the male and female range. In patients with CAH, the ratio corresponded to biological sex (based on sex chromosomes) in some cases but also ranged across the cutoffs. In the 15 patients with 45,X/46,XY mosaicism, the LH/FSH ratios corresponded to the assigned sex in all cases (12 were raised as males, 3 as females) and at all time points in cases with multiple sampling. While this study describes LH/FSH in infants with DSD, the exact clinical role of the ratio in the management of these patients remains to be further elucidated.
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- 2023
47. AMH and other markers of ovarian function in patients with Turner syndrome – a single center experience of transition from pediatric to gynecological follow up
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Hagen, Casper P., Fischer, Margit Bistrup, Mola, Gylli, Mikkelsen, Theis Bech, Cleemann, Line Hartvig, Gravholt, Claus Højbjerg, Viuff, Mette H., Juul, Anders, Pedersen, Anette Tønnes, Main, Katharina Maria, Hagen, Casper P., Fischer, Margit Bistrup, Mola, Gylli, Mikkelsen, Theis Bech, Cleemann, Line Hartvig, Gravholt, Claus Højbjerg, Viuff, Mette H., Juul, Anders, Pedersen, Anette Tønnes, and Main, Katharina Maria
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Turner syndrome (TS) is a chromosomal disorder that affects about 1 in 2500 female births and is characterized by the partial or complete absence of the second X chromosome. Depending on karyotype, TS is associated with primary ovarian insufficiency (POI). Approximately 50% of girls with a mosaic 45, X/46, XX karyotype may enter puberty spontaneously, but only 5-10% of women with TS achieve pregnancy without egg donation. In this review, we will evaluate the clinical use of markers of ovarian function in TS patients. Based on longitudinal studies of serum concentrations of reproductive hormones as well as ovarian morphology in healthy females and patients with TS, we will evaluate how they can be applied in a clinical setting. This is important when counseling patients and their families about future ovarian function essential for pubertal development and fertility. Furthermore, we will report on 20 years of experience of transition from pediatric to gynecological and adult endocrinological care in our center at Rigshospitalet, Copenhagen, Denmark.
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- 2023
48. Reproductive hormones, bone mineral content, body composition, and testosterone therapy in boys and adolescents with Klinefelter syndrome
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Krabbe, Hans Valdemar López, Petersen, Jørgen Holm, Asserhøj, Louise Laub, Johannsen, Trine Holm, Christiansen, Peter, Jensen, Rikke Beck, Cleemann, Line Hartvig, Hagen, Casper P., Priskorn, Lærke, Jørgensen, Niels, Main, Katharina M., Juul, Anders, Aksglaede, Lise, Krabbe, Hans Valdemar López, Petersen, Jørgen Holm, Asserhøj, Louise Laub, Johannsen, Trine Holm, Christiansen, Peter, Jensen, Rikke Beck, Cleemann, Line Hartvig, Hagen, Casper P., Priskorn, Lærke, Jørgensen, Niels, Main, Katharina M., Juul, Anders, and Aksglaede, Lise
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Adult patients with Klinefelter syndrome (KS) are characterized by a highly variable phenotype, including tall stature, obesity, and hypergonadotropic hypogonadism, as well as an increased risk of developing insulin resistance, metabolic syndrome, and osteoporosis. Most adults need testosterone replacement therapy (TRT), whereas the use of TRT during puberty has been debated. In this retrospective, observational study, reproductive hormones and whole-body dual-energy x-ray absorptiometry-derived body composition and bone mineral content were standardized to age-related standard deviation scores in 62 patients with KS aged 5.9–20.6 years. Serum concentrations of total testosterone and inhibin B were low, whereas luteinizing hormone and follicle-stimulating hormone were high in patients before TRT. Despite normal body mass index, body fat percentage and the ratio between android fat percentage and gynoid fat percentage were significantly higher in the entire group irrespective of treatment status. In patients evaluated before and during TRT, a tendency toward a more beneficial body composition with a significant reduction in the ratio between android fat percentage and gynoid fat percentage during TRT was found. Bone mineral content (BMC) did not differ from the reference, but BMC corrected for bone area was significantly lower when compared to the reference. This study confirms that patients with KS have an unfavorable body composition and an impaired bone mineral status already during childhood and adolescence. Systematic studies are needed to evaluate whether TRT during puberty will improve these parameters. Keywords: Klinefelter syndrome; body composition; truncal obesity; bone mineral content, Adult patients with Klinefelter syndrome (KS) are characterized by a highly variable phenotype, including tall stature, obesity, and hypergonadotropic hypogonadism, as well as an increased risk of developing insulin resistance, metabolic syndrome, and osteoporosis. Most adults need testosterone replacement therapy (TRT), whereas the use of TRT during puberty has been debated. In this retrospective, observational study, reproductive hormones and whole-body dual-energy x-ray absorptiometry-derived body composition and bone mineral content were standardized to age-related standard deviation scores in 62 patients with KS aged 5.9–20.6 years. Serum concentrations of total testosterone and inhibin B were low, whereas luteinizing hormone and follicle-stimulating hormone were high in patients before TRT. Despite normal body mass index, body fat percentage and the ratio between android fat percentage and gynoid fat percentage were significantly higher in the entire group irrespective of treatment status. In patients evaluated before and during TRT, a tendency toward a more beneficial body composition with a significant reduction in the ratio between android fat percentage and gynoid fat percentage during TRT was found. Bone mineral content (BMC) did not differ from the reference, but BMC corrected for bone area was significantly lower when compared to the reference. This study confirms that patients with KS have an unfavorable body composition and an impaired bone mineral status already during childhood and adolescence. Systematic studies are needed to evaluate whether TRT during puberty will improve these parameters.
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- 2023
49. Survival and long-term socioeconomic consequences of childhood and adolescent onset of brain tumours
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Pickering, Line, Main, Katharina M., Feldt-Rasmussen, Ulla, Sehested, Astrid, Mathiasen, René, Klose, Marianne, Ibsen, Rikke, Kjellberg, Jakob, Jennum, Poul, Pickering, Line, Main, Katharina M., Feldt-Rasmussen, Ulla, Sehested, Astrid, Mathiasen, René, Klose, Marianne, Ibsen, Rikke, Kjellberg, Jakob, and Jennum, Poul
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Aim: To evaluate survival distributions, long-term socioeconomic consequences, and health care costs in patients with childhood and adolescent onset of brain tumours in a Danish nationwide prospective cohort study. Method: A search of national registries identified 2283 patients (1198 males, 1085 females; mean age 9 years 6 months [SD 5 years 7 months]) diagnosed with a brain tumour between 1980 and 2015 and aged no older than 18 years at diagnosis. These were compared with sex-, age-, and residency-matched comparison individuals. Patients with malignant tumours were compared with those with benign tumours. Survival distributions were estimated by the Kaplan–Meier method and hazard ratio by the Cox proportional hazard model. Socioeconomic data at age 20 and 30 years were assessed. Results: The probability of mortality was highest during the first year after tumour diagnosis. In young adulthood, the patients were generally less likely to be married, had lower grade-point averages, educational levels, and income, were less likely to be in employment, and had higher health care costs than comparison individuals. Patients with malignant tumours had worse outcomes with respect to education, employment, and health care costs than those with benign tumours. Interpretation: A diagnosis of brain tumour in childhood and adolescence adversely affects survival and has negative long-term socioeconomic consequences, especially in patients with malignant tumours. These patients require continuous social support.
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- 2023
50. Epidemiology and diagnostic trends of congenital adrenal hyperplasia in Denmark:a retrospective, population-based study
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Berglund, Agnethe, Ornstrup, Marie J., Lind-Holst, Marie, Dunø, Morten, Bækvad-Hansen, Marie, Juul, Anders, Borch, Luise, Jørgensen, Niels, Rasmussen, Åse K., Andersen, Marianne, Main, Katharina M., Hansen, Dorte, Gravholt, Claus H., Berglund, Agnethe, Ornstrup, Marie J., Lind-Holst, Marie, Dunø, Morten, Bækvad-Hansen, Marie, Juul, Anders, Borch, Luise, Jørgensen, Niels, Rasmussen, Åse K., Andersen, Marianne, Main, Katharina M., Hansen, Dorte, and Gravholt, Claus H.
- Abstract
Background: The prevalence of newborns with congenital adrenal hyperplasia (CAH) detected by neonatal screening is well-described, but data including patients diagnosed later in life are extremely limited. This study aimed to describe diagnostic trends for all patients with CAH in Denmark. Methods: A nationwide population-based registry study including medical record review. Findings: We identified 462 patients (290 females) with any form of CAH. The prevalence of CAH combined was 15.1 (95% confidence interval [CI]: 12.3–16.1) and 9.0 (CI: 7.6–10.4) per 100,000 newborn females and males. There was a prevalence of salt-wasting (SW), simple-virilizing (SV), and non-classic (NC) CAH due to 21-hydroxylase deficiency of: SW-CAH: 6.4 (CI: 5.3–7.6) and 5.6 (CI: 4.6–6.8); SV-CAH: 2.0 (CI: 1.4–2.8) and 1.6 (CI: 1.0–2.7); and NC-CAH: 5.5 (CI: 4.4–6.9) and 2.5 (CI: 1.7–3.7) per 100,000 newborn females and males, respectively. Diagnosis of NC-CAH increased significantly during the course of the study. There was a female preponderance for SV-CAH (ratio: 1.8) and NC-CAH (ratio: 3.2). Median age at diagnosis, females and males respectively: SW-CAH: 4 (interquartile range [IQR]: 0–11) and 14 (IQR: 8–24) days, SV-CAH: 3.1 (IQR: 1.2–6.6) and 4.8 (IQR: 3.2–6.9) years, and NC-CAH: 15.5 (IQR: 7.9–22.5) and 9.4 (IQR: 7.2–23.2) years. Interpretation: The combined prevalence of CAH was 15.1 and 9.0 per 100,000 newborn females and males, respectively. The female preponderance was primarily due to diagnosis of more females than males with NC-CAH. Funding: International Fund of Congenital Adrenal Hyperplasia, Health Research Fund of Central Denmark Region, Aase and Einar Danielsen Fund, and “Fonden til Lægevidenskabens Fremme”.
- Published
- 2023
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