Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism

The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype

(2016) M. S. Rocca et al.   Andrology

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

(2015) Simon Chang et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Hypersexuality, Paraphilic Behaviors, and Gender Dysphoria in Individuals with Klinefelter's Syndrome

(2015) Alessandra D. Fisher et al.   Journal of Sexual Medicine

Age and markers of Leydig cell function, but not of Sertoli cell function predict the success of sperm retrieval in adolescents and adults with Klinefelter's syndrome

(2015) J. Rohayem et al.   Andrology

The role of hypogonadism in Klinefelter Syndrome

(2014) Anders Bojesen et al.   ASIAN JOURNAL OF ANDROLOGY

Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients

(2014) Mary K. Samplaski et al.   FERTILITY AND STERILITY

Cognitive and neurological aspects of sex chromosome aneuploidies

(2014) David S Hong et al.   LANCET NEUROLOGY

Low INSL3 in Klinefelter syndrome is related to osteocalcin, testosterone treatment and body composition, as well as measures of the hypothalamic-pituitary-gonadal axis

(2014) S. Overvad et al.   Andrology

Gynecomastia in subjects with sexual dysfunction

(2014) E. Maseroli et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Reduced artery diameters in Klinefelter syndrome

(2012) C. Foresta et al.   INTERNATIONAL JOURNAL OF ANDROLOGY

Klinefelter Syndrome—A Clinical Update

(2012) Kristian A. Groth et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

TEX11 Modulates Germ Cell Proliferation by Competing with Estrogen Receptor β for the Binding to HPIP

(2012) Yueh-Hsiang Yu et al.   MOLECULAR ENDOCRINOLOGY

Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome

(2012) E. Pessia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Escape from X inactivation in mice and humans

(2012) Joel B Berletch et al.   GENOME BIOLOGY

Morbidity and mortality in Klinefelter syndrome (47,XXY)

(2011) Anders Bojesen et al.   ACTA PAEDIATRICA

Serum concentrations of Anti-Müllerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism

(2011) Lise Aksglaede et al.   ACTA PAEDIATRICA

Expression of selected genes escaping from X inactivation in the 41, XXY* mouse model for Klinefelter’s syndrome

(2011) Steffi Werler et al.   ACTA PAEDIATRICA

Klinefelter syndrome

(2011) Anne M. Wikström et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Is There a Paternal Age Effect for Aneuploidy?

(2011) K.G.L. Fonseka et al.   CYTOGENETIC AND GENOME RESEARCH

X chromosome inactivation in human and mouse pluripotent stem cells

(2011) Guoping Fan et al.   HUMAN GENETICS

Genes that escape from X inactivation

(2011) Joel B. Berletch et al.   HUMAN GENETICS

FGFR3 is a target of the homeobox transcription factor SHOX in limb development

(2011) Eva Decker et al.   HUMAN MOLECULAR GENETICS

Genotype and phenotype in Klinefelter syndrome - impact of androgen receptor polymorphism and skewed X inactivation

(2011) A. Bojesen et al.   INTERNATIONAL JOURNAL OF ANDROLOGY

Bone Mass in Subjects with Klinefelter Syndrome: Role of Testosterone Levels and Androgen Receptor Gene CAG Polymorphism

(2011) Alberto Ferlin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy

(2010) Anne Marie Ottesen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Klinefelter's syndrome: new and rapid diagnosis by PGR analysis of XIST gene expression

(2010) A. Kleinheinz et al.   ANDROLOGIA

Male 41, XXY* Mice as a Model for Klinefelter Syndrome: Hyperactivation of Leydig Cells

(2010) Joachim Wistuba et al.   ENDOCRINOLOGY

Global survey of escape from X inactivation by RNA-sequencing in mouse

(2010) F. Yang et al.   GENOME RESEARCH

Testosterone Therapy in Men with Androgen Deficiency Syndromes: An Endocrine Society Clinical Practice Guideline

(2010) Shalender Bhasin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Klinefelter's syndrome, type 2 diabetes and the metabolic syndrome: the impact of body composition

(2010) A. Bojesen et al.   MOLECULAR HUMAN REPRODUCTION

Animal models for Klinefelter's syndrome and their relevance for the clinic

(2010) J. Wistuba   MOLECULAR HUMAN REPRODUCTION

Novel genetic aspects of Klinefelter's syndrome

(2010) F. Tuttelmann et al.   MOLECULAR HUMAN REPRODUCTION

Bone mineral density in Klinefelter syndrome is reduced and primarily determined by muscle strength and resorptive markers, but not directly by testosterone

(2010) A. Bojesen et al.   OSTEOPOROSIS INTERNATIONAL

Klinefelter’s Syndrome: A Clinical and Therapeutical Update

(2010) G. Forti et al.   Sexual Development

The cognitive phenotype in Klinefelter syndrome: A review of the literature including genetic and hormonal factors

(2009) Richard Boada et al.   Developmental Disabilities Research Reviews

Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome

(2009) Andreas Poplinski et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Investigation, treatment and monitoring of late-onset hypogonadism in males

(2008) C Wang et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Genetic Alterations Associated With Cryptorchidism

(2008) Alberto Ferlin   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

21-Hydroxylase Deficiency and Klinefelter Syndrome in an Adult Man: Striking a Balance Between Androgen Excess and Insufficiency

(2008) A. Balestrieri et al.   JOURNAL OF ANDROLOGY