From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes

• Published in: The journal of clinical endocrinology and metabolism Vol. 109; no. 8; pp. e1564 - e1573
• Main Authors: Spaziani, Matteo, Carlomagno, Francesco, Tarantino, Chiara, Angelini, Francesco, Paparella, Roberto, Tarani, Luigi, Putotto, Carolina, Badagliacca, Roberto, Pozza, Carlotta, Isidori, Andrea M, Gianfrilli, Daniele
• Format: Journal Article
• Language: English
• Published: US Oxford University Press 01.08.2024
• Subjects: 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

Abstract Objective High-grade aneuploidies of X and Y sex chromosomes (HGAs) are exceedingly rare and complex conditions. We aimed to investigate the effect of supernumerary X chromosomes (extra-Xs) on the clinical, hormonal, metabolic, and echocardiographic features of patients with HGAs. Design an...