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A Case-Based Guide to Clinical EndocrinologyKlinefelter Syndrome

A Case-Based Guide to Clinical Endocrinology: Klinefelter Syndrome [Klinefelter syndrome (KS) is the most common cause of primary testicular failure with a prevalence of 1:500–600 males, 3–4% of infertility cases, and 10–12% of men with azoospermia. The classical clinical features are small testes, gynecomastia in 33–50% and elevated levels of LH and FSH. Testosterone levels are usually low but may overlap the reference range, especially in young adults. Most cases are detected as teenagers with delayed puberty or gynecomastia or as infertile adults. Eighty percent of cases have a 47,XXY karyotype, while 20% are 47,XXY/46,XY mosaics with a milder phenotype who may be sperm-positive. In addition to hypogonadism, KS patients often have long legs, leg ulcers, immune disorders, learning disabilities, psychopathology, low bone mass, germ cell tumors, and an increased risk for the metabolic syndrome, Type 2 diabetes mellitus (T2DM), and cardiovascular disease which are thought to result from overexpression of genes on the extra X chromosome that escape inactivation. Testosterone treatment corrects the symptoms and signs of androgen deficiency and is generally begun in teenagers. While 95% of KS men are azoospermic, sperm may be found in the seminiferous tubules with successful IVF-intracytoplasmic sperm injection in approximately 20% of selected cases.] http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png

A Case-Based Guide to Clinical EndocrinologyKlinefelter Syndrome

Editors: Davies, Terry F.

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References (47)

Publisher
Springer International Publishing
Copyright
© The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2022
ISBN
978-3-030-84366-3
Pages
289 –300
DOI
10.1007/978-3-030-84367-0_32
Publisher site
See Chapter on Publisher Site

Abstract

[Klinefelter syndrome (KS) is the most common cause of primary testicular failure with a prevalence of 1:500–600 males, 3–4% of infertility cases, and 10–12% of men with azoospermia. The classical clinical features are small testes, gynecomastia in 33–50% and elevated levels of LH and FSH. Testosterone levels are usually low but may overlap the reference range, especially in young adults. Most cases are detected as teenagers with delayed puberty or gynecomastia or as infertile adults. Eighty percent of cases have a 47,XXY karyotype, while 20% are 47,XXY/46,XY mosaics with a milder phenotype who may be sperm-positive. In addition to hypogonadism, KS patients often have long legs, leg ulcers, immune disorders, learning disabilities, psychopathology, low bone mass, germ cell tumors, and an increased risk for the metabolic syndrome, Type 2 diabetes mellitus (T2DM), and cardiovascular disease which are thought to result from overexpression of genes on the extra X chromosome that escape inactivation. Testosterone treatment corrects the symptoms and signs of androgen deficiency and is generally begun in teenagers. While 95% of KS men are azoospermic, sperm may be found in the seminiferous tubules with successful IVF-intracytoplasmic sperm injection in approximately 20% of selected cases.]

Published: Jan 4, 2022

Keywords: Testicular failure; Azoospermia; Hypogonadism; Gynecomastia; Klinefelter syndrome

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