Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Claus H, Gravholt"'
Autor:
Agnethe Berglund, Emma B. Johannsen, Anne Skakkebæk, Simon Chang, Julia Rohayem, Sandra Laurentino, Arne Hørlyck, Simon O. Drue, Ebbe Norskov Bak, Jens Fedder, Frank Tüttelmann, Jörg Gromoll, Jesper Just, Claus H. Gravholt
Publikováno v:
Biology of Sex Differences, Vol 15, Iss 1, Pp 1-16 (2024)
Abstract Background 46,XX testicular disorder/difference of sex development (46,XX DSD) is a rare congenital condition, characterized by a combination of the typical female sex chromosome constitution, 46,XX, and a variable male phenotype. In the maj
Externí odkaz:
https://doaj.org/article/a87274221bac47398901277a729c969e
Autor:
Cagla Margit Øzdemir, Mette Mølby Nielsen, Jani Liimatta, Clarissa D Voegel, Rawda Naamneh Elzenaty, Victor S Wasehuus, Marie Lind-Holst, Marie Juul Ornstrup, Stine Bjørn Gram, Lilian Bomme Ousager, Christa E Flück, Claus H Gravholt
Publikováno v:
Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-8 (2024)
Congenital adrenal hyperplasia (CAH) is one of the most common inherited rare endocrine disorders. This case report presents two female siblings with delayed diagnosis of non-classical CAH 3β-hydroxysteroid dehydrogenase type 2 (3βHSD2D/HSD3B2) des
Externí odkaz:
https://doaj.org/article/fa243a86ff684261b55f0ddbd54c03c6
Autor:
Helene Bandsholm Leere Tallaksen, Emma B Johannsen, Jesper Just, Mette Hansen Viuff, Claus H Gravholt, Anne Skakkebæk
Publikováno v:
Endocrine Connections, Vol 12, Iss 9, Pp 1-12 (2023)
Sex chromosome abnormalities (SCAs) are chromosomal disorders with either a complete or partial loss or gain of sex chromosomes. The most frequent SCAs include Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Trisomy X syndrome (47,XXX), and Do
Externí odkaz:
https://doaj.org/article/df1b9f29e43849e39c614076585dcdff
Publikováno v:
Endocrine Connections, Vol 12, Iss 5, Pp 1-13 (2023)
Context: Klinefelter syndrome (KS, 47,XXY) and 47,XYY syndrome are genetic conditions characterized by a supernumerary sex chromosome. The conditions share many traits, but considerable phenotypic differences are seen between the two. Focusing on mor
Externí odkaz:
https://doaj.org/article/c4c445c1f0684e1f917e3b462dbbc0f8
Autor:
René J. Huster, Christina Thunberg, Anne-Kristin Solbakk, Claus H. Gravholt, Krister Fjermestad
Publikováno v:
NeuroImage: Clinical, Vol 44, Iss , Pp 103674- (2024)
Deficits in several cognitive domains are prevalent in men with Klinefelter Syndrome (KS). Verbal deficits are among the most characteristic cognitive impairments of KS, yet other cognitive domains also exhibit deficits. Executive functions, especial
Externí odkaz:
https://doaj.org/article/25761494509146dba1d2899bc9258821
Autor:
Mads Svart, Nikolaj Rittig, Thien Vinh Luong, Nigopan Gopalasingam, Esben Thyssen Vestergaard, Lars Gormsen, Esben Søndergaard, Henrik Holm Thomsen, Claus H. Gravholt
Publikováno v:
Journal of Nutrition and Metabolism, Vol 2024 (2024)
Background. Beta-hydroxybuturate (β-OHB) supplements are commonly utilized in sports by both recreational and professional athletes. In a recent study, we observed a drop in testosterone levels following the oral ingestion of racemic sodium-β-OHB.
Externí odkaz:
https://doaj.org/article/128265b9086543378da4d283e1dd6d31
Autor:
Mette Viuff, Anne Skakkebæk, Emma B. Johannsen, Simon Chang, Steen Bønlykke Pedersen, Katrine Meyer Lauritsen, Mette Glavind Bülow Pedersen, Christian Trolle, Jesper Just, Claus H. Gravholt
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-19 (2023)
Abstract Background Sex chromosome aneuploidies (SCAs) give rise to a broad range of phenotypic traits and diseases. Previous studies based on peripheral blood samples have suggested the presence of ripple effects, caused by altered X chromosome numb
Externí odkaz:
https://doaj.org/article/db4f75ab2f61487782271ccbb0b67421
Autor:
Claus H Gravholt, Alberto Ferlin, Joerg Gromoll, Anders Juul, Armin Raznahan, Sophie van Rijn, Alan D Rogol, Anne Skakkebæk, Nicole Tartaglia, Hanna Swaab
Publikováno v:
Endocrine Connections, Vol 12, Iss 3, Pp 1-9 (2023)
The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12–14, 2022. Here, we review new data presented at the workshop and discuss scientific and clinical trajectori
Externí odkaz:
https://doaj.org/article/21aa3d3b17ee47db8c7907ea53655811
Autor:
Luca Persani, Martine Cools, Stamatina Ioakim, S Faisal Ahmed, Silvia Andonova, Magdalena Avbelj-Stefanija, Federico Baronio, Jerome Bouligand, Hennie T Bruggenwirth, Justin H Davies, Elfride De Baere, Iveta Dzivite-Krisane, Paula Fernandez-Alvarez, Alexander Gheldof, Claudia Giavoli, Claus H Gravholt, Olaf Hiort, Paul-Martin Holterhus, Anders Juul, Csilla Krausz, Kristina Lagerstedt-Robinson, Ruth McGowan, Uta Neumann, Antonio Novelli, Xavier Peyrassol, Leonidas A Phylactou, Julia Rohayem, Philippe Touraine, Dineke Westra, Valeria Vezzoli, Raffaella Rossetti
Publikováno v:
Endocrine Connections, Vol 11, Iss 22, Pp 1-7 (2022)
Differences of sex development and maturation (SDM) represent a heterogeneous puzzle of rare conditions with a large genetic component whose management and treatment could be improved by an accurate classification of underlying molecular conditions,
Externí odkaz:
https://doaj.org/article/2d8fa80d5d96414aaaa8f97a72aee4ac
Autor:
Sine Knorr, Anne Skakkebæk, Jesper Just, Emma B. Johannsen, Christian Trolle, Søren Vang, Zuzana Lohse, Birgitte Bytoft, Peter Damm, Kurt Højlund, Dorte M. Jensen, Claus H. Gravholt
Publikováno v:
BMC Medicine, Vol 20, Iss 1, Pp 1-16 (2022)
Abstract Background Offspring born to women with pregestational type 1 diabetes (T1DM) are exposed to an intrauterine hyperglycemic milieu and has an increased risk of metabolic disease later in life. In this present study, we hypothesize that in ute
Externí odkaz:
https://doaj.org/article/073f313ca6fd4d02bbd4109dde92062c