• A 10-YEAR STUDY OF CHILDREN WITH GONADAL TUMORS AND DISORDERS OF SEX DIFFERENTIATION, IN ROMANIA
• A case of 49,XXXYY followed-up from infancy to adulthood with review of literature
• A Challenging Case of Diabetes in a Patient With XXYY Syndrome
• A multi-center analysis of individuals with a 47,XXY/46,XX karyotype
• A novel partial deletion of the TBL1XR1 gene detected using SNP array in a patient with motor delay, growth failure and Klinefelter syndrome
• A Novel Partial Deletion of the TBL1XR1 Gene Detected Using SNP Array in a Patient with Motor Delay, Growth Failure, and Klinefelter Syndrome
• A rare case of adult-onset spastic paraparesis associated with Klinefelter syndrome
• A rare case of mosaic Klinefelter syndrome in a 45-year-old man leading to successful live birth through ejaculated spermatozoa: a case report and literature review
• Advances in genetic research on Non-syndromic congenital joint synostosis
• Adverse impact of supernumerary X chromosome on anthropometric, endocrinological, metabolic parameters and cardiac function in males
• Age, Sperm Retrieval, and Testicular Histology in Klinefelter Syndrome
• Alterations in Neural Activation During Facial Emotion Processing in Adolescent Male Participants With Klinefelter Syndrome
• Ambiguous Genitalia and Disorders of Sexual Differentiation
• An Unexpected Finding of Klinefelter Syndrome during Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Genetic Analysis
• Anti-Müllerian hormone, testicular descent and cryptorchidism
• Association of chromosomal abnormalities with prenatal exposure to heavy metals: A nested case-control study in high-risk pregnant women in China
• Associations between brain network, puberty, and behaviors in boys with Klinefelter syndrome
• Bibliometric analysis of scientific publications on cryptorchidism: Research hotspots and trends between 2000 and 2022
• Case report: Klinefelter syndrome may protect against the development of spinal and bulbar muscular atrophy
• Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study
• Clinical evolution of antisynthetase syndrome-associated interstitial lung disease after COVID-19 in a man with Klinefelter syndrome: A case report
• Cognition, Academic Achievement, Adaptive Behavior, and Quality of Life in Child and Adolescent Boys with Klinefelter Syndrome
• Communication of the diagnosis to Klinefelter subjects: an observational study on a key moment of the patient's life
• Correction to "Setting up a multi-disciplinary Klinefelter syndrome clinic - lessons learnt and shared" by S. Rintoul-Hoad et al
• Correction to: "From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes"
• Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis
• Detection of chromosomal aneuploidy in ancient genomes
• Differences in clinical outcomes between men with mosaic Klinefelter syndrome and those with non-mosaic Klinefelter syndrome
• Double aneuploidy in a 2-month-old male with Edward syndrome and Klinefelter syndrome: a case report
• Down-Klinefelter Syndrome With Concurrent Double Aneuploidy in an Indian Child
• Effectiveness of social management training on executive functions in males with Klinefelter syndrome (47, XXY)
• Endocrinology: what's new in 2023
• Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review
• Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family
• First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array
• From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes
• Generation of iPSC Cell Lines from Patients with Sex Chromosome Aneuploidies
• Genes and Pathways Underpinning Klinefelter Syndrome at Bulk and Single-Cell Levels
• Giftedness and atypical sexual differentiation: enhanced perceptual functioning through estrogen deficiency instead of androgen excess
• Gilles de la Tourette syndrome as a rare co-morbidity of Klinefelter syndrome
• Global Practice Patterns and Variations in the Medical and Surgical Management of Non-Obstructive Azoospermia: Results of a World-Wide Survey, Guidelines and Expert Recommendations
• Global, regional and national burdens of reproduction-related congenital birth defects, 1990-2019
• Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism
• Gonadotropins for pubertal induction in males with hypogonadotropic hypogonadism: systematic review and meta-analysis
• Gynecomastia in adolescent males: current understanding of its etiology, pathophysiology, diagnosis, and treatment
• Hormonal, clinical, and genetic profile of infertile patients with azoospermia in Morocco
• Hormone Therapy During Infancy or Early Childhood for Patients with Hypogonadotropic Hypogonadism, Klinefelter or Turner Syndrome: Has the Time Come?
• How exome sequencing improves the diagnostics and management of men with non-syndromic infertility
• In search of zebras: Critical analysis of the rarity of perineural breast cancer spread to the brachial plexus in men
• In vitro spermatogenesis in artificial testis: current knowledge and clinical implications for male infertility
• Interplay between male gonadal function and overall male health
• Klinefelter Syndrome
• Klinefelter syndrome in primary care: A case and review
• Klinefelter syndrome presenting as metastatic bilateral breast cancer: missed diagnostic opportunities
• Klinefelter Syndrome: A Genetic Disorder Leading to Neuroendocrine Modifications and Psychopathological Vulnerabilities in Children-A Literature Review and Case Report
• Klinefelter syndrome: Etiology and clinical considerations in male infertility
• Letter: Age, Sperm Retrieval, and Testicular Histology in Klinefelter Syndrome
• Leukemia
• Leydig cell metabolic disorder act as a new mechanism affecting for focal spermatogenesis in Klinefelter syndrome patients: a real world cross-sectional study base on the age
• Macular hypoplasia and high myopia in 48, xxyy syndrome: a unique case of 48, xxyy syndrome that presents with high myopia and macular dysplasia
• Male Breast Cancer: An Updated Review of Patient Characteristics, Genetics, and Outcome
• Male Genetic Evaluation in Infertility, Recurrent Abortion and Recurrent in Vitro Fertilization Failure; A Clinical Approach
• Markers of Fertility in Adolescents With Chronic Endocrinopathies at Transition From Paediatric to Adult Care
• Mediastinal Germ Cell Tumors
• Mediastinal Germ-cell Tumors Relapse in a Male With Klinefelter Syndrome. Is Longer Surveillance Needed?
• Mediastinal Nonseminoma
• Microspherophakia and Lens Subluxation in Klinefelter Syndrome: A Case Report
• Mild liver dysfunction in Klinefelter syndrome is associated with abdominal obesity and elevated lipids but not testosterone treatment
• Mixed hypogonadism: a neglected combined form of hypogonadism
• Mosaicism for 47,XXY or 47,XXY/46,XY at amniocentesis in a pregnancy with a favorable outcome and no prominent perinatal decrease of the 47,XXY cell line
• Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions
• Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder
• Orchiopexy
• Postural tremor and sexual chromosome aneuploidies: case report and review of literature
• Prevalence and patterns of chromosomal abnormalities in patients suspected of genetic disorders: insights from a study in Ouagadougou, Burkina Faso
• Privacy and ethical challenges of the Amelogenin sex test in forensic paternity/kinship analysis: Insights from a 13-year case history
• Psychological support for individuals with differences of sex development (DSD)
• Recent advances in mechanisms ensuring the pairing, synapsis and segregation of XY chromosomes in mice and humans
• Risk factors for male breast cancer
• Role of loss and skew of X chromosome inactivation for developing myelodysplastic syndrome in patients with Klinefelter syndrome: A brief review of the literature
• Serum Concentrations of Inhibin B in Healthy Females and Males Throughout Life
• Serum Lipocalin-2 Levels as a Biomarker in Pre- and Post-Pubertal Klinefelter Syndrome Patients: A Pilot Study
• Sex bias in immune response: it is time to include the sex variable in studies of autoimmune rheumatic diseases
• Sperm retrieval outcomes of contralateral testis in men with non-obstructive azoospermia and unsuccessful unilateral microdissection testicular sperm extraction
• Sperm retrieval outcomes of contralateral testis in men with nonobstructive azoospermia and unsuccessful unilateral microdissection testicular sperm extraction
• Telomere Dysfunction in Pediatric Patients with Differences/Disorders of Sexual Development
• Testosterone replacement therapy in Klinefelter syndrome - follow-up study associating hemostasis and RNA expression
• Testosterone Replacement Therapy in Klinefelter Syndrome-Follow-up Study Associating Hemostasis and RNA Expression
• The correlation between clinical features and ultrastructure of testis of non-mosaic Klinefelter's syndrome patients with hypogonadism and androgen deficiency: A case report
• The human infertility single-cell testis atlas (HISTA): an interactive molecular scRNA-Seq reference of the human testis
• The human Y and inactive X chromosomes similarly modulate autosomal gene expression
• The Psychosocial Impact of Klinefelter Syndrome-A 10 Year Review
• The Psychosocial Impact of Klinefelter Syndrome-A 10 Year Review
• The testicular microvasculature in Klinefelter syndrome is immature with compromised integrity and characterized by excessive inflammatory cross-talk
• TLR8 escapes X chromosome inactivation in human monocytes and CD4⁺ T cells
• Total osteocalcin levels are independently associated with worse testicular function and a higher degree of hypothalamic-pituitary-gonadal axis activation in Klinefelter syndrome
• Understanding the Neuropsychological Implications of Klinefelter Syndrome in Pediatric Populations: Current Perspectives
• X-chromosome loss rescues Sertoli cell maturation and spermatogenesis in Klinefelter syndrome
• XX Male: Early Detection With Prenatal Testing
• Young Syndrome