A. Berglund , L. Cleemann, B. E. Oftedal, K. Holm, E. S., Husebye, C. H. Gravholt

21-hydroxylase autoantibodies are more prevalent in Turner syndrome but without an association to the autoimmune polyendocrine syndrome type I

2018 British Society for Immunology, Clinical & Experimental Immunology, 195: 364–368

Agnethe Berglund, Mette Hansen Viuff, Anne Skakkebæk, Simon Chang, Kirstine Stochholm, Claus Højbjerg Gravholt

Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

Orphanet Journal of Rare Diseases (2019) 14:16

Agnethe Berglund, Trine H. Johannsen, Kirstine Stochholm, Mette H. Viuff, Jens Fedder, Katharina M. Main, Claus H. Gravholt

Morbidity, Mortality, and Socioeconomics in Females With 46,XY Disorders of Sex Development: A Nationwide Study

J Clin Endocrinol Metab, April 2018, 103(4):1418–1428

Sara Brun, Agnethe Berglund, Kristian H. Mortensen, Britta E. Hjerrild, Klavs W. Hansen, Niels H. Andersen, Claus H. Gravholt

Blood pressure, sympathovagal tone, exercise capacity and metabolic status are linked in Turner syndrome

Clinical Endocrinology. 2019;91:148–155

Sara Brun, Line Cleemann, Kirsten Holm, Gitte Salskov, Mogens Erlandsen, Agnethe Berglund, Niels H. Andersen, Claus H. Gravholt

Five-Year Randomized Study Demonstrates Blood Pressure Increases in Young Women With Turner Syndrome Regardless of Estradiol Dose by on December 21, 2018

Simon Chang, Daniel Biltoft, Anne Skakkebæk, Jens Fedder,  Anders Bojesen, M. Vakur Bor, Claus H. Gravholt, Anna-Marie B. Münster

Testosterone treatment and association with thrombin generation and coagulation inhibition in Klinefelter syndrome: A cross-sectional study

Thrombosis Research 182 (2019) 175–181

Holly Corbitt, Shaine A. Morris, Claus H. Gravholt, Kristian H. Mortensen, Rebecca Tippner-Hedges, Michael Silberbach, Cheryl L. Maslen, GenTAC Registry Investigators

TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome

PLOS Genetics, October 3, 2018

Claus H. Gravholt, Ole L. Dollerup, Lone Duval, Else Mejlgaard, Katrine Stribolt, Søren Vang, Britt E. Laursen, Michael Knudsen, Kasper Thorsen, Remko Hersmus, Leendert H.J. Looijenga, Kirstine Stochholm

A Rare Case of Embryonal Carcinoma in a Patient with Turner Syndrome without Y Chromosomal Material but Mutations in KIT, AKT1 , and ZNF358 Demonstrated Using Exome Sequencing

Sex Dev 2017;11:262–268

Christian Høst, Anders Bojesen, Mogens Erlandsen, Kristian A Groth, Kurt Kristensen, Anne Grethe Jurik, Niels H Birkebæk, Claus H Gravholt

A placebo-controlled randomized study with testosterone in Klinefelter syndrome: beneficial effects on body composition

Endocrine Connections (2019) 8, 1250–1261

Shathmigha Ketheeswaran, Birgit Alsbjerg, Preben Christensen, Claus Højbjerg Gravholt, Peter Humaidan

45,X/46,XY Mosaicism and Normozoospermia in a Patient with Male Phenotype

Hindawi Case Reports in Medicine, Volume 2019, Article ID 2529080, 5 pages

Karen O. Klein, Robert L. Rosenfield, Richard J. Santen, Aneta M. Gawlik, Philippe F. Backeljauw, Claus H. Gravholt, Theo C. J. Sas, Nelly Mauras

Estrogen Replacement in Turner Syndrome: Literature Review and Practical Considerations

J Clin Endocrinol Metab, May 2018, 103(5):1790–1803

R. J. Laursen, B. Alsbjerg, I. Vogel, C. H. Gravholt, H. Elbaek, D. L. Lildballe, P. Humaidan, E. M. Vestergaard

Case of successful IVF treatment of an oligospermic male with 46,XX/46,XY chimerism

Journal of Assisted Reproduction and Genetics. Received: 13 December 2017 /Accepted: 18 April 2018

Angela E. Lin, Siddharth K. Prakash, Niels H. Andersen, Mette H. Viuff, Lynne L. Levitsky, Michelle Rivera-Davila, Melissa L. Crenshaw, Lars Hansen, Mary K. Colvin, Frances J. Hayes, Evelyn Lilly, Emma A. Snyder, Shahla Nader-Eftekhari, Melissa B. Aldrich, Ami B. Bhatt, Laura M. Prager, Ana Arenivas, Anne Skakkebaek,  Marcie A. Steeves, Jeffrey B. Kreher, Claus H. Gravholt

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years

Am J Med Genet. 2019; 179A:1987–2033

Kristian H. Mortensen, Jan Wen, Mogens Erlandsen, Christian Trolle, Steffen Ringgaard, Ephraim J. Gutmark, Iris Gutmark-Little, Niels H. Andersen, Claus H. Gravholt

Aortic growth rates are not increased in Turner syndrome—a prospective CMR study

European Heart Journal – Cardiovascular Imaging (2019) 0, 1–7

Kristian H Mortensen, Luciana Young, Julie De Backer, Michael Silberbach, Ronnie Thomas Collins, Anthonie L Duijnhouwer, Bejal Pandya, Claus H Gravholt, Leo Lopez, Jolien W Roos-Hesselink

Cardiovascular imaging in Turner syndrome: state-of-the-art practice across the lifespan

Heart 2018;104:1823–1831

Anne Skakkebæk, Philip J. Moore, Anders Degn Pedersen, Anders Bojesen, Maria
Krarup Kristensen, Jens Fedder, Jens Michael Hertz, John R. Østergaard, Mikkel Wallentin, Claus Højbjerg Gravholt

Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement

PLOS ONE, November 9, 2018

Anne Skakkebæk1, Morten Muhlig Nielsen, ChristianTrolle, SørenVang, Henrik Hornshøj, Jakob Hedegaard, MikkelWallentin, Anders Bojesen, Jens Michael Hertz, Jens Fedder, John Rosendahl Østergaard, Jakob Skou Pedersen, Claus Højbjerg Gravholt

DNA hypermethylation and diferential gene expression associated with Klinefelter syndrome


Jan Wen, Christian Trolle, Mette H. Viuff, Steffen Ringgaard, Esben Laugesen, Ephraim J. Gutmark, Dhananjay Radhakrishnan Subramaniam, Philippe Backeljauw, Iris Gutmark-Little, Niels H. Andersen, Kristian H. Mortensen, Claus H. Gravholt

Impaired aortic distensibility and elevated central blood pressure in Turner Syndrome: a cardiovascular magnetic resonance study

Journal of Cardiovascular Magnetic Resonance (2018) 20:80

Claus H. Gravholt, Mette H. Viuff, Sara Brun, Kirstine Stochholm, Niels H. Andersen

Turner syndrome: mechanisms and management

Nature Reviews, ENDOCRINOLOGY Reviews volume 15, OCTOBER 2019

Claus H. Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore, Anne Skakkebæk

Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology

Endocrine Reviews, August 2018, 39(4):389–423

Simon Chang, Anne Skakkebæk, Christian Trolle, Anders Bojesen, Jens Michael Hertz, Arieh Cohen, David Michael Hougaard, Mikkel Wallentin, Anders Degn Pedersen, John Rosendahl Østergaard, Claus Højbjerg Gravholt

Anthropometry in Klinefelter Syndrome – Multifactorial Influences Due to CAG Length, Testosterone Treatment and Possibly Intrauterine Hypogonadism

J Clin Endocrinol Metab 100: E508 –E517, 2015

Simon Chang, Anne Skakkebæk, Claus Højbjerg Gravholt

Klinefelter syndrome and medical treatment: hypogonadism and beyond

HORMONES 2015, 14(4):531-548

Jens Fedder, Claus H. Gravholt, Stine Gry Kristensen, Niels Marcussen, Birte Engvad, Ann Mains Milton, Claus Yding Andersen

Testicular Sperm Sampling by Subcapsular Orchiectomy in Klinefelter Patients: A New Simplified Treatment Approach

UROLOGY 86 (4), 2015

Inger Norlyk Jørgensen, Anne Skakkebæk, Niels Holmark Andersen, Lisbeth Nørum Pedersen, David Michael Hougaard, Anders Bojesen, Christian Trolle, Claus Højbjerg Gravholt

Short QTc Interval in Males with Klinefelter Syndrome—Influence of CAG Repeat Length, Body Composition, and Testosterone Replacement Therapy

PACE, Vol. 38 April 2015

Anne Skakkebæk, Mikkel Wallentin, Claus H. Gravholt

Neuropsychology and socioeconomic aspects of Klinefelter syndrome: new developments, Volume 22, Number 3, June 2015

Christian Trolle, Britta Hjerrild, Kristian Havmand Mortensen, Sine Knorr, Hanne Maare Søndergaard, Jens Sandahl Christiansen, Claus Højbjerg Gravholt

Low myocardial glucose uptake in Turner syndrome is unaffected by growth hormone: a randomized, placebo-controlled FDG-PET study

Clinical Endocrinology (2015) 83, 133–140

Christian Trolle, Kristian Havmand Mortensen, Mette Bjerre, David M. Hougaard, Arieh Cohen, Niels Holmark Andersen, Claus Højbjerg Gravholt

Osteoprotegerin in Turner syndrome – relationship to aortic diameter

Clinical Endocrinology (2015) 82, 397–403

Mette Hansen Viuff, Kirstine Stochholm, Niels Uldbjerg, Birgitte Bruun Nielsen, the Danish Fetal Medicine Study Group, Claus Højbjerg Gravholt

Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome

Human Reproduction, Vol.30, No.10 pp. 2419–2426, 2015

Agnethe Berglund, Trine H. Johannsen, Kirstine Stochholm, Mette H. Viuff, Jens Fedder, Katharina M. Main, Claus H. Gravholt

Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development

J Clin Endocrinol Metab, December 2016, 101(12):4532– 4540

Krister W. Fjermestad, Eva E. Naess, David Bahr, Claus H. Gravholt

A 6-year Follow-up survey of health status in middle-aged women with Turner syndrome

Clinical Endocrinology (2016) 85, 423–429

Juliee Rege, Adina F. Turcu, Tobias Else, Richard J. Auchus, William E. Rainey

Steorid biomarkers in human adrenal disease

Journal of Steorid Biochemistry and Molecular Biology 190 (2019) 273-280

Kristian H. Mortensen, Deepa Gopalan, Bjarne L. Nørgaard, Niels H. Andersen, Claus H. Gravholt

Multimodality cardiac imaging in Turner syndrome

Cardiology in the Young (2016), 26, 831–841

E. Nieschlag, A. Ferlin, C. H. Gravholt, J. Gromoll, B. Kohler, H. Lejeune, A. D. Rogol, J. Wistuba

The Klinefelter syndrome: current management and research challenges

Andrology, 2016, 4, 545–549

ChristianTrolle, Morten Muhlig Nielsen, Anne Skakkebæk, Philippe Lamy, SørenVang, Jakob Hedegaard, Iver Nordentoft, Torben Falck Ørntoft, Jakob Skou Pedersen, Claus Højbjerg Gravholt

Widespread DNA hypomethylation and differential gene expression in Turner syndrome

Scientific Reports, 6:34220

Mikkel Wallentina, Anne Skakkebæk, Anders Bojesen, Jens Fedder, Peter Laurberg, John R. Østergaard, Jens Michael Hertz, Anders Degn Pedersen, Claus Højbjerg Gravholt

Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation

NeuroImage: Clinical 11 (2016) 239–251

Mette H. Viuff, Christian Trolle, Jan Wen, Jesper M. Jensen, Bjarne L. Nørgaard, Ephraim J. Gutmark, Iris Gutmark-Little, Kristian H. Mortensen, Claus Højbjerg Gravholt, Niels H. Andersen

Coronary artery anomalies in Turner Syndrome

Journal of Cardiovascular Computed Tomography xxx (2016) 1-5

A. Berglund, T.H. Johannsen, K. Stochholm, L. Aksglaede, J. Fedder, M.H. Viuff, K.M. Main, C.H. Gravholt

Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study

Human Reproduction, Vol.32, No.8 pp. 1751–1760, 2017

Line Cleemann, Kirsten Holm, Hanne Kobbernagel, Bent Kristensen, Svend Oluf Skouby, Andreas Kryger Jensen, Claus H Gravholt

Dosage of estradiol, bone and body composition in Turner syndrome: a 5-year randomized controlled clinical trial 

European Journal of Endocrinology (2017) 176, 233-242

Claus H Gravholt, Niels H Andersen, Gerard S Conway, Olaf M Dekkers, Mitchell E Geffner, Karen O Klein, Angela E Lin, Nelly Mauras, Charmian A Quigley1, Karen Rubin, David E Sandberg, Theo C J Sas, Michael Silberbach, Viveca Söderström-Anttila, Kirstine Stochholm, Janielle A van Alfen-van derVelden, Joachim Woelfle, Philippe F Backeljauw, On behalf of the International Turner Syndrome Consensus Group

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

European Journal of Endocrinology (2017) 177, G1–G70

Dorte Guldbrand Nielsen, Jens Cosedis Nielsen, Christian Trolle, Claus Højbjerg Gravholt, Niels Holmark Andersen

Prolonged QT interval and cardiac arrest after a single dose of amiodarone in a woman with Turner’s syndrome

2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd

Anne Skakkebæk, Philip J. Moore, Anders Degn Pedersen, Anders Bojesen, Maria Krarup Kristensen, Jens Fedder, Peter Laurberg, Jens Michael Hertz, John Rosendahl Østergaard, Mikkel Wallentin, Claus Højbjerg Gravholt

The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome

Brain and Behavior. 2017;7:e00645

Dhananjay Radhakrishnan Subramaniam, William A. Stoddard, Kristian H. Mortensen, Steffen Ringgaard, Christian Trolle, Claus H. Gravholt, Ephraim J. Gutmark, Goutham Mylavarapu, Philippe F. Backeljauw, Iris Gutmark-Little

Continuous measurement of aortic dimensions in Turner syndrome: a cardiovascular magnetic resonance study

Subramaniam et al. Journal of Cardiovascular Magnetic Resonance (2017) 19:20

Anne Skakkebæk, Philip J. Moore, Simon Chang, Jens Fedder, Claus H. Gravholt

Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function

Genetics in Medicine

Vikram V Shanbhogue, Stinus Hansen, Niklas Rye Jørgensen, Kim Brixen, Claus H Gravholt

Bone Geometry, Volumetric Density, Microarchitecture, and Estimated Bone Strength Assessed by HR‐pQCT in Klinefelter Syndrome

Journal of Bone and Mineral Research, Vol. 29, No. 11, November 2014, pp 2474–2482

A. Skakkebæk,  A. Bojesen, M. K. Kristensen, A. Cohen, D. M. Hougaard, J. M. Hertz, J. Fedder, P. Laurberg, M. Wallentin, J. R. Østergaard, D. Pedersen, C. H. Gravholt

Neuropsychology and brain morphology in Klinefelter syndrome – the impact of genetics

Andrology, 2014, 2, 632–640