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Anne Skakkebaek

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Articles 46
Citations 810
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Recent Articles
1.
Bedei I, Bruder J, Lund I, Thomsen S, Vogel I, Maciel-Guerra A, et al.
Am J Med Genet C Semin Med Genet . 2025 Mar; :e32136. PMID: 40040490
Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the...
2.
Chang S, Pedersen L, Skakkebaek A, Berglund A, Gravholt C
Lancet Reg Health Eur . 2025 Feb; 51:101230. PMID: 39973943
Background: Men with Klinefelter syndrome (KS) have hypogonadism, increased morbidity, and excess mortality. Testosterone replacement therapy (TRT) has the potential to alleviate this burden. We assessed the risk of major...
3.
Just J, Ridder L, Johannsen E, Jensen J, Petersen M, Christensen H, et al.
NPJ Genom Med . 2025 Feb; 10(1):9. PMID: 39915521
Turner syndrome (TS) presents with multiple karyotypes, including 45,X monosomy and variants such as isochromosomes and mosaicism, and is characterized by several co-morbidities, including metabolic conditions and autoimmunity. Here, we...
4.
Berglund A, Johannsen E, Skakkebaek A, Chang S, Rohayem J, Laurentino S, et al.
Biol Sex Differ . 2024 Oct; 15(1):77. PMID: 39380113
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...
5.
Gravholt C, Andersen N, Christin-Maitre S, Davis S, Duijnhouwer A, Gawlik A, et al.
Eur J Endocrinol . 2024 May; 190(6):G53-G151. PMID: 38748847
Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new...
6.
Ridder L, Mains Balle C, Skakkebaek A, Lind-Holst M, Nielsen M, Hermann P, et al.
Clin Endocrinol (Oxf) . 2024 Apr; 100(6):515-526. PMID: 38572909
Objective: To investigate the metabolic, cardiovascular, and neuropsychological phenotype, quality of life (QoL), and hormonal regulation in individuals with congenital adrenal hyperplasia (CAH), a group of autosomal recessive disorders characterized...
7.
Chang S, Just J, Skakkebaek A, Johannsen E, Fedder J, Gravholt C, et al.
J Clin Endocrinol Metab . 2023 Nov; 109(4):978-991. PMID: 37962976
Background: Men with Klinefelter syndrome (KS) develop hypergonadotropic hypogonadism, are in need of testosterone replacement therapy (TRT), and present with a more than 4-fold increased risk of thrombosis. TRT in...
8.
Johannsen E, Skakkebaek A, Kalucka J, Fedder J, Gravholt C, Just J
Hum Reprod . 2023 Nov; 38(12):2339-2349. PMID: 37910660
Study Question: Does Klinefelter syndrome (KS) lead to a distinct gene expression pattern at single-cell level in the testes that could provide insight into the reported microvascular dysfunction in the...
9.
Skakkebaek A, Kjaer-Sorensen K, Matchkov V, Christensen L, Just J, Comert C, et al.
Sci Rep . 2023 Jul; 13(1):12089. PMID: 37495650
The genetic architecture of the QT interval, defined as the period from onset of depolarisation to completion of repolarisation of the ventricular myocardium, is incompletely understood. Only a minor part...
10.
Tallaksen H, Johannsen E, Just J, Viuff M, Gravholt C, Skakkebaek A
Endocr Connect . 2023 Jul; 12(9). PMID: 37399516
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),...