Review
Endocrinology & Metabolism
Alan D. Rogol
Summary: The overall incidence of sex chromosome aneuploidies is approximately 1 per 500 live-born infants. Each sex chromosome trisomy has a specific phenotype that can be modified by mosaicism. The reproductive axis is often affected in females with certain karyotypes, while males commonly experience non-obstructive azoospermia. Assisted reproductive technology plays an important role in treating these conditions.
ENDOCRINE CONNECTIONS
(2023)
Article
Neurosciences
Ethan T. Whitman, Siyuan Liu, Erin Torres, Allysa Warling, Kathleen Wilson, Ajay Nadig, Cassidy McDermott, Liv S. Clasen, Jonathan D. Blumenthal, Francois M. Lalonde, Stephen J. Gotts, Alex Martin, Armin Raznahan
Summary: Our study identified increased global resting-state functional connectivity in the left dorsolateral prefrontal cortex in XXY syndrome, which was partly linked to regional volumetric changes and severity of psychopathology. This provides biological insights into XXY syndrome as a disorder and a model of genetic risk for psychopathology.
Article
Genetics & Heredity
Kate Swanson, Juliet C. Bishop, Huda B. Al-Kouatly, Mona Makhamreh, Thomas Felton, Neeta L. Vora, Teresa N. Sparks, Angie C. Jelin
Summary: This study investigated the prenatal presentation of Klinefelter syndrome and found that prenatal diagnosis and genetic screening can identify fetal abnormalities, providing important information for birth planning and subsequent interventions.
PRENATAL DIAGNOSIS
(2023)
Article
Psychiatry
Nienke Bouw, Hanna Swaab, Sophie van Rijn
Summary: This study evaluated the effectiveness of neurocognitive training in children with Sex Chromosome Trisomies, focusing on improving facial emotion recognition. Results showed significant improvement in facial emotion recognition in the training group, though there were no effects on Theory of Mind abilities and social orienting. Both parents and children expressed satisfaction with the feasibility of the training program.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Genetics & Heredity
Line Dahl Jeppesen, Tina Duelund Hjortshoj, Johnny Hindkjaer, Lotte Hatt, Olav Bjorn Petersen, Ripudaman Singh, Palle Schelde, Lotte Andreasen, Rikke Christensen, Dorte L. Lildballe, Ida Vogel
Summary: The article introduces a cell-based noninvasive prenatal DNA testing method applied to twin pregnancies to assist couples in prenatal testing decision-making.
FRONTIERS IN GENETICS
(2022)
Article
Psychology, Developmental
Nienke Bouw, Hanna Swaab, Nicole Tartaglia, Rebecca L. Wilson, Kim Van der Velde, Sophie van Rijn
Summary: The present study investigates the impact of Sex Chromosome Trisomy (SCT) on the early appearance of Autism Spectrum Disorder (ASD) symptoms and the predictive value of Joint Attention for ASD symptoms. The results show that children with SCT have higher ASD symptoms compared to the general population, and Joint Attention has predictive value for ASD symptoms at a 1-year follow-up. These findings suggest an increased risk for vulnerabilities in adaptive social functioning in children with SCT from a very early age.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2023)
Article
Psychology, Developmental
Nienke Bouw, Hanna Swaab, Nicole Tartaglia, Lisa Cordeiro, Sophie van Rijn
Summary: Individuals with Sex Chromosome Trisomies (SCT; XXX, XXY, XYY) are more vulnerable to challenges in social adaptive functioning. This study found that children with SCT have less interaction behaviors and more social withdrawal, particularly in high social load situations, compared to control children. Additionally, social impairments related to Autism Spectrum Disorder (ASD) are more prevalent in SCT children. These findings highlight the importance of early monitoring and (preventive) support for social development in young children with SCT.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Clinical Neurology
Nienke Bouw, Hanna Swaab, Nicole Tartaglia, Lisa Cordeiro, Sophie van Rijn
Summary: The study found that children with SCT show lower proportion fixation duration on faces from the age of 3, and impairments in affect recognition were also observed. This highlights the necessity to further explore the social cognitive skills development of children with SCT, monitor affect recognition skills in a longitudinal design, and implement (preventive) interventions to support attention to social important information and affect recognition.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS
(2022)
Article
Psychology, Clinical
Evelien Urbanus, Hanna Swaab, Nicole Tartaglia, Constance Stumpel, Sophie van Rijn
Summary: This study investigates the pragmatic language abilities in young children with SCT and finds that children with SCT have weaker pragmatic language skills compared to controls, and pragmatic language abilities are predictive of later behavioral problems.
CLINICAL NEUROPSYCHOLOGIST
(2023)
Article
Oncology
Malgorzata Lysiak, Anja Smits, Kenney Roy Roodakker, Elisabeth Sandberg, Anna Dimberg, Munila Mudaisi, Charlotte Bratthall, Michael Strandeus, Peter Milos, Martin Hallbeck, Peter Soderkvist, Annika Malmstrom
Summary: This study revealed a strong correlation between deletion of the SRY gene and reduced overall survival in male GBM patients. The findings suggest that deletions and reduced gene expression of chromosome Y genes, especially SRY, may play a role in the reduced survival of male GBM patients and are connected to major gliomagenesis pathways.
Article
Oncology
Richard S. Lee, Sophia Q. Song, Henri M. Garrison-Desany, Jenny L. Carey, Patricia Lasutschinkow, Andrew Zabel, Joseph Bressler, Andrea Gropman, Carole Samango-Sprouse
Summary: Equal dosage of X-linked genes between males and females is maintained by X-inactivation of the second X chromosome in females. Boys with 49,XXXXY display higher levels of CpG methylation at regulatory intronic regions in X-linked genes associated with behavior dysfunction.
CLINICAL EPIGENETICS
(2021)
Article
Psychology, Clinical
N. Bouw, H. Swaab, N. Tartaglia, S. van Rijn
Summary: This study investigates the impact of sex chromosome trisomy on early social cognitive skills. The results show difficulties in social orienting, joint attention, and theory of mind in children with SCT, which increase with age. There were no differences in these difficulties between different karyotypes.
ARCHIVES OF CLINICAL NEUROPSYCHOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Ming Wang, ZhaoLin Sun, Fangrong Ding, Haiping Wang, Ling Li, Xue Li, Xianjin Zheng, Ning Li, Yunping Dai, Changxin Wu
Summary: In this study, researchers efficiently knocked out four Y-linked genes and generated a sex-reversal bovine using gene editing and gene knockin technologies. The study demonstrated for the first time that the Sry gene is an important sex-determining gene in bovine, providing new insights into mammalian sex determination research and practical applications in agriculture.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Article
Psychology, Clinical
Evelien Urbanus, Hanna Swaab, Nicole Tartaglia, Sophie van Rijn
Summary: Children with sex chromosome trisomy may experience difficulties in social communication, which may underlie social-behavioral problems. Early monitoring and support are important.
ARCHIVES OF CLINICAL NEUROPSYCHOLOGY
(2023)
Article
Clinical Neurology
Evelien Urbanus, Hanna Swaab, Nicole Tartaglia, Richard Boada, Sophie van Rijn
Summary: Children with sex chromosome trisomy (SCT) are at increased risk for developing language difficulties, with language difficulties present from an early age and across various language domains. Clinical classification showed that a significant percentage of children with SCT scored below the 16th percentile in different language domains. Early monitoring of language development in nonverbal communication is crucial, as early language skills lay the foundation for later social communication, literacy, and self-expression. Further studies investigating the effect of early interventions on later language outcomes are warranted.
CHILD NEUROPSYCHOLOGY
(2022)
Article
Andrology
Nina Morup, Ailsa Maria Main, Niels Jorgensen, Gedske Daugaard, Anders Juul, Kristian Almstrup
Summary: This study is the first to report the identification of microbiome species in the seminal plasma of men with TGCT and GCNIS-only, and has found some species differences that may be involved in the pathogenesis of TGCTs. Further studies are needed to confirm these findings.
Article
Endocrinology & Metabolism
Cecilie S. Uldbjerg, Youn-Hee Lim, Elvira Braeuner, Anders Juul
Summary: There is a lack of evidence on the long-term and general health of males with gynecomastia. This study found that males with idiopathic gynecomastia have a higher risk of future disease, especially endocrine diseases.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Anders Juul, Philippe Backeljauw, Marco Cappa, Alberto Pietropoli, Nicky Kelepouris, Agnes Linglart, Roland Pfaeffle, Mitchell Geffner
Summary: This study aimed to assess the impact of patient age at growth hormone (GH) therapy initiation on long-term growth outcomes and safety in short children born small for gestational age (SGA).
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Clara Lundetoft Clausen, Trine Holm Johannsen, Niels Erik Skakkebaek, Hanne Frederiksen, Camilla Koch Ryrso, Arnold Matovu Dungu, Maria Hein Hegelund, Daniel Faurholt-Jepsen, Rikke Krogh-Madsen, Birgitte Lindegaard, Allan Linneberg, Line Lund Karhus, Anders Juul, Thomas Benfield
Summary: This study aimed to investigate the concentrations of pituitary-gonadal hormones in COVID-19 patients and their associations with inflammation, severe respiratory failure, and mortality. The results showed that reduced testosterone concentrations were associated with severe respiratory failure in men with COVID-19, while reduced LH and FSH concentrations were associated with severe respiratory failure in women with COVID-19.
ENDOCRINE CONNECTIONS
(2023)
Review
Endocrinology & Metabolism
Claus H. Gravholt, Alberto Ferlin, Joerg Gromoll, Anders Juul, Armin Raznahan, Sophie van Rijn, Alan D. Rogol, Anne Skakkebaek, Nicole Tartaglia, Hanna Swaab
Summary: The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, from September 12-14, 2022. This review focuses on the new data presented at the workshop and the scientific and clinical trajectories discussed. It highlights the deficiencies in knowledge and identifies areas for future research, particularly in the genetics and genomics of supernumerary sex chromosome syndromes. The workshop also addressed the challenges of transitioning, the pervasive neurocognitive changes in these syndromes, and the need for improved healthcare systems and guidelines.
ENDOCRINE CONNECTIONS
(2023)
Article
Oncology
P. L. Jorgensen, M. Kreiberg, N. Jorgensen, A. Juul, P. S. Oturai, C. Dehlendorff, J. Lauritsen, T. Wagner, J. Rosenvilde, G. Daugaard, C. R. Medici, N. R. Jorgensen, M. Bandak
Summary: The aim of this study was to evaluate the metabolic profile and bone mineral density (BMD) changes in testicular cancer survivors with mild Leydig cell insufficiency after 12 months of testosterone replacement therapy (TRT). The results showed that TRT did not significantly affect BMD, but it resulted in a small increase in N-terminal propeptide of type 1 procollagen (P1NP), which had little clinical significance.
Article
Medicine, General & Internal
Rune Holt, Sam Kafai Yahyavi, Ireen Kooij, Christine Hjorth Andreassen, Anna-Maria Andersson, Anders Juul, Niels Jorgensen, Martin Blomberg Jensen
Summary: This study investigated the role of circulating AMH in men and found that low serum AMH is associated with severely impaired gonadal function. Vitamin D supplementation had no effect on serum AMH.
Article
Obstetrics & Gynecology
Ann-Kristin Dicke, Jakob Albrethsen, Bradley L. Hoare, Margot J. Wyrwoll, Alexander S. Busch, Daniela Fietz, Adrian Pilatz, Clara Buehlmann, Anders Juul, Sabine Kliesch, Joerg Gromoll, Ross A. D. Bathgate, Frank Tuettelmann, Birgit Stallmeyer
Summary: This study reveals that bi-allelic loss-of-function variants in the INSL3 and RXFP2 genes are associated with bilateral cryptorchidism and male infertility, while heterozygous variant carriers are unaffected phenotypically. These findings have diagnostic value for patients with familial/bilateral cryptorchidism and shed light on the importance of INSL3 and RXFP2 in testicular descent and fertility.
HUMAN REPRODUCTION
(2023)
Article
Endocrinology & Metabolism
Andre Madsen, Anders Juul, Lise Aksglaede
Summary: This study aimed to characterize the clinical profiles of prepubertal boys with Klinefelter syndrome (KS) and develop a novel biochemical classification model to identify KS before puberty. Retrospective longitudinal data from 15 prepubertal boys with KS and 1475 controls were used to train a machine learning model for the detection of KS. The study showed that applying machine learning models can improve the identification of prepubertal boys with KS.
ENDOCRINE CONNECTIONS
(2023)
Article
Environmental Sciences
Frederik Damsgaard Hojsager, Annika Sigvaldsen, Marianne Skovsager Andersen, Anders Juul, Flemming Nielsen, Soren Moller, Henrik Boye Thybo Christesen, Anders Grontved, Philippe Grandjean, Tina Kold Jensen
Summary: This study found that prenatal and early postnatal exposure to perfluoroalkyl substances (PFAS) is associated with lower bone mineral density (BMD) at age 7. The association is stronger for exposure at 18 months than prenatal exposure.
ENVIRONMENT INTERNATIONAL
(2023)
Article
Oncology
Astrid L. Beck, Cecilie S. Uldbjerg, Youn-Hee Lim, Brent A. Coull, Karina M. Sorensen, Magdalena M. Utko, Bartlomiej Wilkowski, Panu Rantakokko, Marie Bengtsson, Christian Lindh, Jorgen H. Petersen, Niels E. Skakkebaek, Russ Hauser, Anders Juul, Elvira V. Brauner
Summary: Maternal smoking during pregnancy does not appear to be significantly associated with the risk of testicular germ cell cancer (TGCC) in offspring, based on a study using cotinine measurements as a biomarker for tobacco exposure. The study found comparable cotinine levels in maternal serum and amniotic fluid, but no significant association between active tobacco use and TGCC risk. However, different risks were observed for different types of TGCC, although they were not statistically significant.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Review
Developmental Biology
Alexander S. Busch, Juan Manuel Paturlanne, Nina Neuhaus, Joachim Wistuba, Stefan Schlatt, Anders Juul, Heymut Omran
Summary: Minipuberty is a transient activity period of the hypothalamic-pituitary-gonadal axis in the postnatal and infant period, playing a significant role in the development and maturation of male reproductive function. It has no apparent impact on future fertility potential in females. This review comprehensively explores the effects of minipuberty on male reproductive function, presents suitable animal models for studying minipuberty, discusses the short- and long-term effects, and outlines future research directions.
Article
Andrology
Rune Holt, Sam Kafai Yahyavi, Ireen Kooij, Nadia Nicholine Poulsen, Anders Juul, Niels Jorgensen, Martin Blomberg Jensen
Summary: This study aimed to investigate whether vitamin D supplementation has an impact on sex steroid production in infertile men with vitamin D insufficiency. The results showed that vitamin D supplementation did not alter sex steroid production in infertile men overall, but in men with vitamin D insufficiency, it significantly increased testosterone/luteinizing hormone ratio.
Article
Andrology
Mette Petri Lauritsen, Thomas Leineweber Kristensen, Christine Bo Hansen, Uffe Vest Schneider, Anna Lando Talbot, Anne-Bine Skytte, Jorgen Holm Petersen, Trine Holm Johannsen, Anne Zedeler, Jakob Albrethsen, Anders Juul, Laerke Priskorn, Niels Jorgensen, Henrik Westh, Nina la Cour Freiesleben, Henriette Svarre Nielsen
Summary: This study assessed the impact of mild COVID-19 infection on testicular function and found lower reproductive hormone levels and semen parameters during acute infection, with improvement at follow-up. The study also showed a low risk of SARS-CoV-2 transmission through semen.
Article
Endocrinology & Metabolism
Mette Falkenberg Krantz, Hanne Frederiksen, Carsten Hjorth, Anne S. Ondergaard, Julie Marie Brandt, Sinnika Birkehoj Rohd, Lotte Veddum, Nanna Lawaetz Steffensen, Christina Bruun Knudsen, Anna Krogh Andreasen, Nicoline Hemager, Birgitte Klee Burton, Maja Gregersen, Aja Neergaard Greve, Jessica Ohland, Vibeke Bliksted, Ole Mors, Anne A. E. Thorup, Anders Juul, Merete Nordentoft
Summary: Pubertal timing does not differ between children of parents with severe mental illness and controls, but placement out of home may be associated with accelerated pubertal timing among these children.
COMPREHENSIVE PSYCHONEUROENDOCRINOLOGY
(2023)
