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The Journal of Clinical Endocrinology & Metabolism Vol. 84, No. 10 3660-3665
Copyright © 1999 by The Endocrine Society

Original Studies

Y Chromosome Microdeletions in Cryptorchidism and Idiopathic Infertility1

Carlo Foresta, Enrico Moro, Andrea Garolla, Maurizio Onisto1 and Alberto Ferlin

Department of Medical and Surgical Sciences (C.F., E.M., A.G., A.F.), Clinica Medica 3; Institute of Histology and Embryology (M.O.), University of Padova, 35128 Padova, Italy

Address correspondence and requests for reprints to: Dr. Carlo Foresta, Clinica Medica 3, University of Padova, Via Ospedale 105, 35128 Padua, Italy. E-mail: forestac{at}protec.it

To clarify whether cryptorchidism might be the expression of an intrinsic congenital testicular abnormality, we investigated the frequency of Y chromosome long arm (Yq) microdeletions in unilateral excryptorchid subjects manifesting an important bilateral testiculopathy. Microdeletion analysis of Yq was performed by polymerase chain reaction in the following subjects: 40 unilateral excryptorchid patients with azoospermia or severe oligozoospermia due to a bilateral severe testiculopathy (Sertoli cell-only syndrome or severe hypospermatogenesis); 20 unilateral excryptorchid men with moderate oligozoospermia and a normal testicular cytological picture in the contralateral testis; 110 patients affected by idiopathic severe primary testiculopathies; 20 patients affected by idiopathic moderate testiculopathy; and, as controls, 50 patients affected by known causes of testiculopathy and 100 fertile men.

Eleven of 40 (27.5%) unilateral excryptorchid patients affected by bilateral testiculopathy and 28 of 110 (25.4%) patients affected by idiopathic severe primary testiculopathy showed Yq microdeletions, whereas no microdeletions were found in all the other subjects, nor in male relatives of patients with deletions. Microdeletions were located in different parts of Yq, including known regions involved in spermatogenesis (DAZ and RBM, AZFa, b, and c) and other loci still poorly defined. No difference in localization of deletions was evident between cryptorchid and idiopathic patients.

Microdeletions in Yq may be responsible for severe bilateral testicular damage that could be phenotypically expressed by unilateral cryptorchidism, as well as by idiopathic infertility.




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