This Article  • Full text  • PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Contact me when this article is cited  Related Content  • Related article  • Related letter  • Similar articles in JAMA  Topic Collections  • Men's Health  • Men's Health, Other  • Pediatrics  • Congenital Malformations  • Pediatrics, Other  • Diagnosis  • Genetics  • Genetic Counseling/ Testing/ Therapy  • Alert me on articles by topic  Social Bookmarking   What's this?

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

To the Editor: The study by Dr Ferlin and colleagues¹ advances understanding of the genetic contributions to cryptorchidism. In their study, the prevalence of Klinefelter syndrome, the most common genetic cause of cryptorchidism, was almost identical to that in a 1969 study in which the prevalence of Klinefelter syndrome among 600 boys with cryptorchidism was 1.1%.²

Long-term follow-up of 29 pediatric patients with Klinefelter syndrome (16 prepubertal and 13 pubertal)³ has highlighted the differences in clinical manifestations of Klinefelter syndrome during early childhood and puberty. While in the prepubertal group 11 children (69%) had cryptorchidism (5 bilateral and 6 unilateral) and 5 (31%) were unaffected, among the pubertal patients with Klinefelter syndrome 4 patients (31%) had cryptorchidism (1 bilateral and 3 unilateral) and 9 (69%) had normal descended testes. Moreover, although the Sertoli function remained unaffected during childhood, a mild Leydig cell dysfunction was seen at this early stage in . . . [Full Text of this Article]

Silvia Gottlieb, MD; Rodolfo A. Rey, MD, PhD
Centro de Investigaciones Endocrinológicas
Hospital de Niños Ricardo Gutiérrez
Buenos Aires, Argentina

Saul Malozowski, MD, PhD, MBA
sm87j@nih.gov
National Institute of Diabetes and Digestive and Kidney Diseases
National Institutes of Health
Bethesda, Maryland

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

RELATED ARTICLE

Genetic Alterations Associated With Cryptorchidism
Alberto Ferlin, Daniela Zuccarello, Biagio Zuccarello, Maria Rosaria Chirico, Giovanni Franco Zanon, and Carlo Foresta
JAMA. 2008;300(19):2271-2276.
ABSTRACT | FULL TEXT  

RELATED LETTER

Klinefelter Syndrome and Cryptorchidism—Reply
Alberto Ferlin and Carlo Foresta
JAMA. 2009;301(14):1437.
EXTRACT | FULL TEXT