Titlebook: Klinefelter’s Syndrome; From a Disabling Con Andrea Garolla,Giovanni Corona Book 2020 Springer Nature Switzerland AG 2020 Genetic disorders

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Marco Castellana,Simon Chang,Filippo Procino,Giovanni De Pergola,Vincenzo Triggiani,Vito Angelo Giag

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Introduction: From a Disabling Condition to a Variant of Normalcy,o chromosomal alteration or very little in some cases. Accordingly, it is common for the majority of them to remain undiagnosed or to have a late diagnosis during medical care for hypogonadism, couple infertility, or sexual problems. Therefore, each patient should be individually investigated to get

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Epidemiology of an Underdiagnosed Syndrome,ed the occurrence of a ‘not uncommon’ syndrome characterized by small testes, tall stature, gynaecomastia and azoospermia. In 1959, Patricia A. Jacobs et al. (Nature 183(4657):302–303, 1959) identified the causal role in 47,XXY chromosomal aneuploidy, allowing its diagnosis by karyotyping..The real

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Causes of Extra Chromosome(s),osomes, one X and one Y. Men with Klinefelter syndrome have an arrangement with an extra sex chromosome: 47,XXY instead of the usual 46,XY (Bock, Understanding Klinefelter syndrome: a guide for XXY males and their families, su NIH Pub. No. 93–3202, Office of Research Reporting, NICHD, agosto 1993)..

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Different Karyotypes, Same Disease?, once considered as “variants” of Klinefelter syndrome (KS). This association with KS was mainly based on the presence of at least one supernumerary X chromosome, high stature, and hypergonadotropic hypogonadism with severe testicular hypotrophy. However, many of the shared features show elevated se

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Prenatal Counselling and Management in the Early Neonatal Period,ly prenatal detection of chromosome anomalies, including 47,XXY, is obtained through several invasive and non-invasive techniques. According to our experience, too little is done to prepare couple to the occurrence of sex chromosome anomalies and a positive prenatal test can easily turn into a shock

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The Diagnosis of Klinefelter Syndrome at Prepubertal Age,ons. About the penis length, the diagnosis seems to be suspected when it is less than 3 cm at the birth date and below 4.2 cm between 2 and 10 years. An impaired testis growth could be identified by ultrasound when the mean volume is under 0.25 mL in the first 6 months of life and below 0.36 mL in c