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642 results on '"Holterhus, Paul-Martin"'

1. Gender-affirming hormonal therapy induces a gender-concordant fecal metagenome transition in transgender individuals

Author

Liwinski, Timur, Auer, Matthias K., Schröder, Johanna, Pieknik, Ina, Casar, Christian, Schwinge, Dorothee, Henze, Lara, Stalla, Günter K., Lang, Undine E., von Klitzing, Alina, Briken, Peer, Hildebrandt, Thomas, Desbuleux, Jeanne C., Biedermann, Sarah V., Holterhus, Paul-Martin, Bang, Corinna, Schramm, Christoph, and Fuss, Johannes

Published
2024
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6. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Author

Mensah, Martin A., Niskanen, Henri, Magalhaes, Alexandre P., Basu, Shaon, Kircher, Martin, Sczakiel, Henrike L., Reiter, Alisa M. V., Elsner, Jonas, Meinecke, Peter, Biskup, Saskia, Chung, Brian H. Y., Dombrowsky, Gregor, Eckmann-Scholz, Christel, Hitz, Marc Phillip, Hoischen, Alexander, Holterhus, Paul-Martin, Hülsemann, Wiebke, Kahrizi, Kimia, Kalscheuer, Vera M., Kan, Anita, Krumbiegel, Mandy, Kurth, Ingo, Leubner, Jonas, Longardt, Ann Carolin, Moritz, Jörg D., Najmabadi, Hossein, Skipalova, Karolina, Snijders Blok, Lot, Tzschach, Andreas, Wiedersberg, Eberhard, Zenker, Martin, Garcia-Cabau, Carla, Buschow, René, Salvatella, Xavier, Kraushar, Matthew L., Mundlos, Stefan, Caliebe, Almuth, Spielmann, Malte, Horn, Denise, and Hnisz, Denes

Published
2023
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7. Refractory and relapsed paediatric ACC in the MET studies – A challenging situation necessitating novel diagnostic and therapeutic concepts

Author

Kuhlen, Michaela, Kunstreich, Marina, Lessel, Lienhard, Wudy, Stefan A., Holterhus, Paul-Martin, Vokuhl, Christian, Juettner, Eva, Roecken, Christoph, Seitz, Guido, Slavetinsky, Christoph, Fuchs, Jörg, Schewe, Denis M., Claus, Rainer, Johann, Pascal D., Frühwald, Michael C., Vorwerk, Peter, and Redlich, Antje

Published
2023
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18. The sperm-specific K+ channel Slo3 is inhibited by albumin and steroids contained in reproductive fluids.

Author

Lorenz, Johannes, Eisenhardt, Clara, Mittermair, Teresa, Kulle, Alexandra E., Holterhus, Paul Martin, Fobker, Manfred, Boenigk, Wolfgang, Nordhoff, Verena, Behre, Hermann M., Strünker, Timo, and Brenker, Christoph

Subjects
GENITALIA, OPTICAL modulation, ION channels, SPERMATOZOA, OVIDUCT
Abstract

To locate and fertilize the egg, sperm probe the varying microenvironment prevailing at different stages during their journey across the female genital tract. To this end, they are equipped with a unique repertoire of mostly sperm-specific proteins. In particular, the flagellar Ca2+ channel CatSper has come into focus as a polymodal sensor used by human sperm to register ligands released into the female genital tract. Here, we provide the first comprehensive study on the pharmacology of the sperm-specific human Slo3 channel, shedding light on its modulation by reproductive fluids and their constituents. Weshow that seminal fluid and contained prostaglandins and Zn2+ do not affect the channel, whereas human Slo3 is inhibited in a non-genomic fashion by diverse steroids as well as by albumin, which are released into the oviduct along with the egg. This indicates that not only CatSper but also Slo3 harbours promiscuous ligandbinding sites that can accommodate structurally diverse molecules, suggesting that Slo3 is involved in chemosensory signalling in human sperm. [ABSTRACT FROM AUTHOR]

Published
2024
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19. The Endocrine Phenotype Induced by Pediatric Adrenocortical Tumors Is Age- and Sex-Dependent.

Author

Kunstreich, Marina, Dunstheimer, Desiree, Mier, Pascal, Holterhus, Paul-Martin, Wudy, Stefan A, Huebner, Angela, Redlich, Antje, and Kuhlen, Michaela

Subjects
PUBERTY, CUSHING'S syndrome, PHENOTYPES, WEIGHT gain, SYMPTOMS, TUMORS
Abstract

Context Adrenocortical carcinomas are very rare malignancies in childhood associated with poor outcome in advanced disease. Most adrenocortical tumors (ACT) are functional, causing signs and symptoms of adrenal hormone excess. In most studies, endocrine manifestations were reported 4 to 6 months prior to diagnosis. Objective We sought to extend knowledge on endocrine manifestations with regard to age and sex to facilitate early diagnosis. Methods We retrospectively analyzed features of adrenal hormone excess in children and adolescents with ACT registered with the GPOH-MET studies between 1997 and 2022. Stage of puberty was defined as prepubertal in females < 8 years of age and males < 9 years. Results By December 2022, 155 patients (110 female, 45 male) with data on endocrine manifestations had been reported. Median age at ACT diagnosis was 4.2 years [0.1-17.8], median interval from first symptoms was 4.2 months [0-90.7]. In 63 girls of prepubertal age, the most frequently reported manifestations were pubarche (68.3%), clitoral hypertrophy (49.2%), and weight gain (31.7%); in 47 pubertal female patients, the most frequent manifestations were excessive pubic hair (46.8%), acne (36.2%), and hypertension (36.2%). Leading symptoms in 34 boys of prepubertal age were pubarche (55.9%), penile growth (47.1%), and acne (32.4%), while in 11 pubertal male patients, leading symptoms were weight gain (45.5%), hypertension (36.4%), excessive pubic hair (27.3%), and cushingoid appearance (27.3%). In pubertal patients, symptoms of androgen excess were mainly unrecognized as part of pubertal development, while symptoms of Cushing syndrome were more frequently apparent. Conclusion The endocrine phenotype induced by pediatric ACT is age- and sex-dependent. [ABSTRACT FROM AUTHOR]

Published
2024
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20. New LC-MS/MS reference data for estradiol show mini-puberty in both sexes and typical pre-pubertal and pubertal patterns

Author

Kulle, Alexandra E, primary, Caliebe, Amke, additional, Lamprecht, Tabea, additional, Reinehr, Thomas, additional, Simic-Schleicher, Gunter, additional, Schulz, Esther, additional, Kleber, Michaela, additional, Rothermel, Juliane, additional, Heger, Sabine, additional, Hiort, Olaf, additional, and Holterhus, Paul-Martin, additional

Published
2024
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21. LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome

Author

Cluster C, Endocrinologie, Child Health, Genetica Klinische Genetica, Genetica, Genetica Sectie Genoomdiagnostiek, Pozojevic, Jelena, Sivaprasad, Radhika, Laß, Joshua, Haarich, Franziska, Trinh, Joanne, Kakar, Naseebullah, Schulz, Kristin, Händler, Kristian, Verrijn Stuart, Annemarie A., Giltay, Jacques C., van Gassen, Koen L., Caliebe, Almuth, Holterhus, Paul Martin, Spielmann, Malte, Hornig, Nadine C., Cluster C, Endocrinologie, Child Health, Genetica Klinische Genetica, Genetica, Genetica Sectie Genoomdiagnostiek, Pozojevic, Jelena, Sivaprasad, Radhika, Laß, Joshua, Haarich, Franziska, Trinh, Joanne, Kakar, Naseebullah, Schulz, Kristin, Händler, Kristian, Verrijn Stuart, Annemarie A., Giltay, Jacques C., van Gassen, Koen L., Caliebe, Almuth, Holterhus, Paul Martin, Spielmann, Malte, and Hornig, Nadine C.

Published
2024

23. Diagnosis, Therapy and Follow-Up of Diabetes Mellitus in Children and Adolescents.

Author

Holder, Martin, Kapellen, Thomas, Ziegler, Ralph, Bürger-Büsing, Jutta, Danne, Thomas, Dost, Axel, Holl, Reinhard W., Holterhus, Paul-Martin, Karges, Beate, Kordonouri, Olga, Lange, Karin, Müller, Susanne, Raile, Klemens, Schweizer, Roland, von Sengbusch, Simone, Stachow, Rainer, Wagner, Verena, Wiegand, Susanna, and Neu, Andreas

Subjects
DIABETES in children, AUTOIMMUNE diseases, HEART failure, MATURITY onset diabetes of the young, DIABETES, DIAGNOSIS, TYPE 2 diabetes
Abstract

This document is a summary of an article from the journal Experimental & Clinical Endocrinology & Diabetes titled "Diagnosis, Therapy and Follow-Up of Diabetes Mellitus in Children and Adolescents." The article provides comprehensive information on the diagnosis, therapy, and follow-up of diabetes in this age group. It covers topics such as epidemiology, types of diabetes, risk factors, prevention, and early detection. The article emphasizes the importance of immediate insulin therapy after diagnosis and recommends specialized care for children with diabetes. It also discusses the psychosocial aspects of long-term care, the importance of a multi-professional team, and the treatment of acute and long-term complications. The document provides guidelines for the diagnosis and treatment of various types of diabetes in children and adolescents, including associated autoimmune diseases. It was prepared by the German Diabetes Society with input from experts in the field. [Extracted from the article]

Published
2024
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24. New liquid chromatography tandem mass spectrometry reference data for estradiol show mini-puberty in both sexes and typical pre-pubertal and pubertal patterns.

Author

Kulle, Alexandra E, Caliebe, Amke, Lamprecht, Tabea, Reinehr, Thomas, Simic-Schleicher, Gunter, Schulz, Esther, Kleber, Michaela, Rothermel, Juliane, Heger, Sabine, Hiort, Olaf, and Holterhus, Paul-Martin

Subjects
LIQUID chromatography-mass spectrometry, ESTRADIOL, TANDEM mass spectrometry
Abstract

Context Reliable estradiol (E2) reference intervals (RIs) are crucial in pediatric endocrinology. Objectives This study aims to develop a sensitive ultra-performance liquid chromatographic tandem mass spectrometry (UPLC-MS/MS) method for E2 in serum, to establish graphically represented RI percentiles and annual RIs for both sexes, and to perform a systematic literature comparison. Methods First, a UPLC-MS/MS method for E2 was developed. Second, graphically represented RI percentiles and annual RIs covering 0-18 years were computed (cohort of healthy children [1181 girls and 543 boys]). Subsequently, RIs were compared with published data by systematic searches. Results Lower limit of quantification was 11 pmol/L, indicating high sensitivity. Estradiol first peaked during mini-puberty in both sexes (girls up to 192 pmol/L; boys up to 225 pmol/L). As could be expected, girls showed higher pubertal E2 (up to 638 pmol/L). However, boys' RIs (up to 259 pmol/L) overlapped considerably. We found 4 studies in the literature that also used LC-MS/MS to determine E2 and published RIs for the complete pediatric age range. Reference intervals varied considerably. Pre-pubertal and pubertal phases were present in all studies. Higher E2 during the time of mini-puberty in both sexes was documented in 3 studies including ours. Conclusions Variability of RIs for E2 between studies illustrates the importance of laboratory-specific RIs despite using a LC-MS/MS reference method. In boys, the striking E2 peak during mini-puberty as well as high pubertal E2 without phenotypic estrogenization in regular male puberty indicates that the role of E2 in children and, especially in boys, requires better functional understanding. [ABSTRACT FROM AUTHOR]

Published
2024
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28. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

Author

Khattab, Ahmed, Haider, Shozeb, Kumar, Ameet, Dhawan, Samarth, Alam, Dauood, Romero, Raquel, Burns, James, Li, Di, Estatico, Jessica, Rahi, Simran, Fatima, Saleel, Alzahrani, Ali, Hafez, Mona, Musa, Noha, Azar, Maryam Razzghy, Khaloul, Najoua, Gribaa, Moez, Saad, Ali, Charfeddine, Ilhem Ben, de Mendonça, Berenice Bilharinho, Belgorosky, Alicia, Dumic, Katja, Dumic, Miroslav, Aisenberg, Javier, Kandemir, Nurgun, Alikasifoglu, Ayfer, Ozon, Alev, Gonc, Nazli, Cheng, Tina, Kuhnle-Krahl, Ursula, Cappa, Marco, Holterhus, Paul-Martin, Nour, Munier A., Pacaud, Daniele, Holtzman, Assaf, Li, Sun, Zaidi, Mone, Yuen, Tony, and New, Maria I.

Published
2017

29. Predictors of surgical complications in boys with hypospadias: data from an internationa registry

Author

Scougall, Kathryn, primary, Bryce, Jillian, additional, Baronio, Federico, additional, Boal, Rachel L, additional, Castera, Jose Roberto, additional, Castro, Sebastián, additional, Cheetham, Tim, additional, Costa, Eduardo Corrêa, additional, Darendeliler, Feyza, additional, Davies, Justin H, additional, Dirlewanger, Mirjam, additional, Gazdagh, Gabriella, additional, Globa, Evgenia, additional, Guerra-Junior, Gil, additional, Guran, Tulay, additional, Herrmann, Gloria, additional, Holterhus, Paul-Martin, additional, Akgül, Ahsen Karagözlü, additional, Markosyan, Renata, additional, McElreavey, Kenneth, additional, Miranda, Marcio Lopes, additional, Nordenstrom, Anna, additional, O’Toole, Stuart, additional, Poyrazoglu, Sukran, additional, Russo, Gianni, additional, Schwitzgebel, Valerie, additional, Stancampiano, Marianna, additional, Steigert, Michael, additional, Ahmed, S Faisal, additional, and Lucas-Herald, Angela K, additional

Published
2023
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30. Locally Advanced Adrenocortical Carcinoma in Children and Adolescents—Enigmatic and Challenging Cases

Author

Kuhlen, Michaela, primary, Mier, Pascal, additional, Kunstreich, Marina, additional, Lessel, Lienhard, additional, Slavetinsky, Christoph, additional, Fuchs, Jörg, additional, Seitz, Guido, additional, Holterhus, Paul-Martin, additional, Wudy, Stefan A., additional, Vokuhl, Christian, additional, Frühwald, Michael C., additional, Vorwerk, Peter, additional, and Redlich, Antje, additional

Published
2023
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39. Salivary Diurnal Glucocorticoid Profiles in Monozygotic Twins With Intratwin Birthweight Differences.

Author

Schulte, Sandra, Eberhardt, Nora, Roedig, Thea, Schreiner, Felix, Plamper, Michaela, Bartmann, Peter, Holterhus, Paul-Martin, Kulle, Alexandra E, and Gohlke, Bettina

Subjects
GLUCOCORTICOIDS, MONOZYGOTIC twins, BIRTH weight
Abstract

Context Low birthweight (bw) and unfavorable intrauterine conditions have been associated with metabolic sequelae in later life, but little is known about their impact on glucocorticoid metabolism. Objective We studied monozygotic twins with intratwin bw differences to analyze the long-term impact of bw on glucocorticoid metabolism. Methods 46 monozygotic twin pairs with bw differences of <1 SDS (concordant; n = 29) and ≥1 SDS (discordant; n = 17) were recruited. At 6.9 years (mean age), saliva samples were collected (at 7 hours, 13 hours, 18 hours and 21 hour) and analyzed with liquid chromatography–tandem mass spectrometry (LC-MS/MS). Results We found significant or highly significant intratwin correlations in all twin pairs at 3 of 4 (cortisol), and 4 of 4 (cortisone) time points. Graphic evaluation of the diurnal cortisol patterns for each twin pair showed a distinct alignment in all groups. Analyses of the change of intratwin differences over the day by mixed linear modeling showed no intratwin differences in diurnal patterns. Regression analyses of intratwin differences at 7:00 hours showed a significant influence of catch-up growth, indicating lower cortisol concentrations in smaller twins with more catch-up growth (adj. R2 = 0.159, P =.014, ß = −3.71, F(1,42) = 9.15, f2 = 0.19). Conclusion In monozygotic twins with intratwin bw differences, intratwin catch-up growth showed a moderate influence on intratwin differences in morning cortisol concentrations. We observed no differences regarding diurnal patterns. In contrast, in all groups, we found significant intratwin correlations for cortisol and cortisone over the day and a pronounced graphic alignment of cortisol diurnal patterns. We therefore suggest a predominant significance of the genetic background compared with bw differences on cortisol metabolism. [ABSTRACT FROM AUTHOR]

Published
2024
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40. Diagnosis, therapy and follow-up of diabetes mellitus in children and adolescents

Author

Neu, Andreas, primary, Bürger-Büsing, Jutta, additional, Danne, Thomas, additional, Dost, Axel, additional, Holder, Martin, additional, Holl, Reinhard W., additional, Holterhus, Paul-Martin, additional, Kapellen, Thomas, additional, Karges, Beate, additional, Kordonouri, Olga, additional, Lange, Karin, additional, Müller, Susanne, additional, Raile, Klemens, additional, Schweizer, Roland, additional, von Sengbusch, Simone, additional, Stachow, Rainer, additional, Wagner, Verena, additional, Wiegand, Susanna, additional, and Ziegler, Ralph, additional

Published
2023
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44. A Prospective Analysis of the Metyrapone Short Test Using Targeted and Untargeted Metabolomics

Author

Seoudy, Anna Katharina, primary, Schlicht, Kristina, additional, Kulle, Alexandra, additional, Demetrowitsch, Tobias, additional, Beckmann, Alexia, additional, Geisler, Corinna, additional, Türk, Kathrin, additional, Rohmann, Nathalie, additional, Hartmann, Katharina, additional, Brandes, Juliane, additional, Schulte, Dominik M., additional, Schreiber, Stefan, additional, Schwarz, Karin, additional, Holterhus, Paul-Martin, additional, and Laudes, Matthias, additional

Published
2023
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45. Outcome for Pediatric Adreno-Cortical Tumors Is Best Predicted by the COG Stage and Five-Item Microscopic Score—Report from the German MET Studies

Author

Kuhlen, Michaela, primary, Kunstreich, Marina, additional, Wudy, Stefan A., additional, Holterhus, Paul-Martin, additional, Lessel, Lienhard, additional, Schneider, Dominik T., additional, Brecht, Ines B., additional, Schewe, Denis M., additional, Seitz, Guido, additional, Roecken, Christoph, additional, Vokuhl, Christian, additional, Johann, Pascal D., additional, Frühwald, Michael C., additional, Vorwerk, Peter, additional, and Redlich, Antje, additional

Published
2022
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46. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

Author

Persani, Luca, primary, Cools, Martine, additional, Ioakim, Stamatina, additional, Faisal Ahmed, S, additional, Andonova, Silvia, additional, Avbelj-Stefanija, Magdalena, additional, Baronio, Federico, additional, Bouligand, Jerome, additional, Bruggenwirth, Hennie T, additional, Davies, Justin H, additional, De Baere, Elfride, additional, Dzivite-Krisane, Iveta, additional, Fernandez-Alvarez, Paula, additional, Gheldof, Alexander, additional, Giavoli, Claudia, additional, Gravholt, Claus H, additional, Hiort, Olaf, additional, Holterhus, Paul-Martin, additional, Juul, Anders, additional, Krausz, Csilla, additional, Lagerstedt-Robinson, Kristina, additional, McGowan, Ruth, additional, Neumann, Uta, additional, Novelli, Antonio, additional, Peyrassol, Xavier, additional, Phylactou, Leonidas A, additional, Rohayem, Julia, additional, Touraine, Philippe, additional, Westra, Dineke, additional, Vezzoli, Valeria, additional, and Rossetti, Raffaella, additional

Published
2022
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50. Die 'e-CSE-lent'- (expeditions in Clinical Practice, Science and Education by learning, exploring, networking and transfer) Zertifikatskurse: Ein neues Angebot zum Erwerb akademischer Grundkompetenzen während des Humanmedizinstudiums

Author

Klein, Marcus Oliver and Holterhus, Paul-Martin

Subjects
Medicine and health
Abstract

Hintergrund: Das Curriculum Humanmedizin vermittelt nur wenige Inhalte zu akademischen Grundkompetenzen (wissenschaftliches Arbeiten, Wissenskommunikation, Didaktik) insbesondere für eine spätere hochschulmedizinische Tätigkeit. Die anstehende Novelle der Ärztlichen Approbationsordnung [zum vollständigen Text gelangen Sie über die oben angegebene URL]

Published
2022
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