From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes - Spaziani, Matteo; Carlomagno, Francesco; Tarantino, Chiara; Angelini, Francesco; Paparella, Roberto; Tarani, Luigi; Putotto, Carolina; Badagliacca, Roberto; Pozza, Carlotta; Isidori, Andrea M; Gianfrilli, Daniele (The journal of clinical endocrinology and metabolism, 2024)
Keywords: Adolescent; Adrenocorticotropic hormone; Adult; Aneuploidy; Body mass index; Child; Chromosomes; Chromosomes, Human, X - genetics; Comparative analysis; Cross-Sectional Studies; Dextrose; Gene Dosage; Glucose; Glucose tolerance; Glucose tolerance tests; Heart; Humans; Klinefelter Syndrome - genetics; Klinefelter Syndrome - pathology; Klinefelter's syndrome; Male; Metabolism; Puberty; Sex Chromosome Aberrations; Sex chromosomes; Steroidogenesis; Structure-function relationships; Supernumerary; Thyroid; Thyroid gland; X chromosomes; Young Adult; Israel; Klinefelter syndrome; 48,XXYY; 48,XXXY; HGA; 49,XXXXY; X chromosome; 49,XXXYY; aneuploidy; 47,XXY; sex chromosomes