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Klinefelter Syndrome and Cryptorchidism—Reply
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In Reply: As Dr Gottlieb and colleagues noted, one of the main findings of our study was the frequency of detection of Klinefelter syndrome, especially in boys with persistent bilateral cryptorchidism (5/120 [4.2%; 95% confidence interval, 1.8%-9.7%]). This finding is of particular interest because the availability of early diagnosis of Klinefelter syndrome would allow better management of affected persons during puberty and early adulthood in relation to preservation of fertility and initiation of androgen replacement therapy before symptoms and signs of hypogonadism develop.
Boys with this chromosomal alteration have a progressive testicular failure with spermatogenic failure and reduced testosterone concentrations in late adolescence and early adulthood.1 During childhood and early puberty, pituitary-gonadal function in persons with Klinefelter syndrome is relatively normal, but from midpuberty onwards a hypergonadotropic hypogonadism develops.1 With a decrease in androgen production, secondary sexual characteristics might not completely develop, and features of eunuchoidism and gynecomastia can develop. . . . [Full Text of this Article]
Alberto Ferlin, PhD;
Carlo Foresta, MD
carlo.foresta@unipd.it
Department of Histology, Microbiology, and Medical Biotechnologies
University of Padova
Padova, Italy
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RELATED LETTER
Klinefelter Syndrome and Cryptorchidism
Silvia Gottlieb, Rodolfo A. Rey, and Saul Malozowski
JAMA. 2009;301(14):1436-1437.
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