Shanlee M. Davis, Judith L. Ross, in Encyclopedia of Endocrine Diseases (Second Edition), 2019. Males with poly-X Klinefelter syndrome have more than one extra X chromosome, so their symptoms might be more pronounced than in males with KS. People with this condition are born with at least one extra X chromosome. Corona G, Pizzocaro A, Lanfranco F, Garolla A, Pelliccione F, Vignozzi L, Ferlin A, Foresta C, Jannini EA, Maggi M, Lenzi A, Pasquali D, Francavilla S. Klinefelter ItaliaN Group (KING). It is relatively common, occurring in about 1 of every 500 baby boys. Download as PDF. Abstract. In fact, as few as 25% of patients with KS are accurately diagnosed and most of these diagnoses are not made until adulthood. Dtsch Arztebl Int 110, 347–353. Klinefelter syndrome may be suspected during a noninvasive prenatal screening blood test. Genetic testing; Treatment. Setting: Male infertility specialty clinic. About this page. Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. Klinefelter syndrome is one of the most common chromosomal disorders, occurring in 1:500 to 1:1000 live male births. Another typical, although not consistently reported, symptom of this disorder is gyneco­ mastia with almost normal male secondary sex characteristics. Boys may be taller than other boys their age, with more fat around the belly. Diagnosing Klinefelter SyndromeThe greatest chances to make Klinefelter’sdiagnosing are in following times of life: Before or shortly after birth Early childhood Adolescence Adulthood.For males in which Klinefelter syndrome is suspected, aspecial blood test is recommended to confirm theKlinefelter syndrome diagnosis. Hum Reprod Update. Klinefelter syndrome (KS). The syndrome can affect different stages of physical, language, and social development. Two types of chromosome, called the sex chromosomes, determine the genetic sex of a baby. Objective To increase awareness among general practitioners of their role in the diagnosis and management of KS. In childhood, they may also have seizures, crossed eyes, constipation, and recurrent ear infections. Meiosis is experienced by all cells which will become an egg or sperm. Klinefelter’s syndrome (KS) is not a rare gono­ somal aberration occurring in males. Klinefelter syndrome and other sex chromosome polysomies. (Klinefelter’s syndrome (KS)) and 47,XYY are the most common male sex chromosome aneuploidies compatible with live birth. This condition is not typically inherited from one parents. Klinefelter's Syndrome Association 56 Little Yeldham Road Little Yeldham, Halstead Essex, CO9 4QT. More Information. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Nieschlag E. (2013) Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated. Klinefelter syndrome is a group of conditions affecting the health of males who are born with at least one extra X chromosome. Download PDF (Spanish) Download PDF (Arabic) Download PDF (Hindi) Klinefelter Syndrome: A Guide for Families What is Klinefelter Syndrome? Klinefelter syndrome (KS) is a genetic condition resulting from an additional X chromosome in phenotypic males (47,XXY). Here, we report high levels of schizophrenia-spectrum pathology in 32 men with this syndrome in comparison with 26 healthy controls. Chromosomes, found in all body cells, contain genes. Klinefelter Syndrome is lower than that of boys with the usual number of chromosomes. Plotton I, Giscard d’Estaing S, Cuzin B, Brosse A, Benchaib M, Lornage J, Ecochard R, Dijoud F & Lejeune H; FERTIPRESERVE group. The etiology of the disease remains unexplained. Klinefelter Syndrome‐XXY Definition Klinefelter syndrome is a chromosomal disorder that affects only males. Genetics Home Reference Your Guide to Understanding Genetic Conditions Klinefelter syndrome Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. In 1942,Dr.Harry Klinefelter, and his … Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. 4. These are named either X or Y. Klinefelter syndrome (KS) is a common genetic condition affecting one in 450 men, but is only diagnosed in fewer than half of those affected. Boys normally have one X and one Y chromosome, but most boys with Klinefelter syndrome have two X and one Y chromosome. 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