Case report: Cryptorchidism and AZF microdeletion

R. Dada¹, N.P. Gupta², K. Kucheria¹

¹Genetics Division, Department of Anatomy; ²Department of Urology, All India Institute of Medical Sciences, New Delhi-110029, India

Asian J Androl  2002 Jun; 4:  148             

Cryptorchidism or undescended hidden testis is the most common disorder of sexual differentiation in man with an incidence of 4.5 % at birth and decreases to 0.8 % at 1 year of age until adulthood. Cryptorchidism is associated with impaired spermatogenesis due to high intra-abdominal temperature and increased incidence of testicular cancer. Cryptorchidism can be considered as a cause of infertility in 2 %~9 % of infertile patients, and in testicular cancer 5 %~10 % of men have a history of cryptor-chidism.

It is known that the long arm of the Y chromosome contains genes critical for spermatogenesis, the azoospermia factor (AZF)- AZFa, AZFb and AZFc. Deletion of any of these loci is associated with spermatogenic arrest at a particular stage of germ cell development and a characteristic testicular phenotype.

During polymerase chain reaction (PCR) micro-deletion analysis of cytogenetically normal idiopathic male infertility patients, we found two cryptorchid cases with AZF microdeletion. Both cases (case 1 and 2) were azoo-spermic and had abdominal testis in the lumbar region. Follicular stimulating hormone (FSH) levels of the two cases were 6.8 and 41.3 mIU/ml, respectively. PCR microdeletion analysis was done using the guidelines and primers as prescribed by Simoni et al [1]. Case 1 showed deletion of AZFc loci ( STS deleted- sY254, sY255) and case 2, deletion of AZFb loci (STS deleted- sY127, sY134). Screening of literature showed only two published reports of AZF microdeletion in cryptorchidism by Foresta et al [2,3]. They found AZF microdeletions in all the 3 loci in 27.5% of the cryptorchid patients.

Thus results of our preliminary study support findings of Foresta et al [2,3] that AZF microdeletions may lead to altered testicular response to mechanisms regulating testicular descent and finally lead to cryptorchidism.

AZF microdeletion may lead to partial or complete spermatogenic arrest and the effect of a high testicular temperature may further worsen this condition. Thus in cryptorchidism patients with AZF microdeletion, surgical correction may not improve the spermatogenic status due to the presence of microdeletion in the region critical for spermatogenesis (AZF). The knowledge of the presence of these deletions in cryptorchid cases is important to understand the prognosis, better management and counsel these patients accordingly. Thus in all cases of cryptorchidism, AZF microdeletion analysis should be done.

Authors are grateful to the Indian Council of Medical Research (Grant No. 54/1/98) for financial assistance.

References

[1] Simoni M, Bakker E, Eurlings MC, Matthijs G, Moro E, Muller CR, Vogt PH. Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions. Int J Androl 1999;22:292-9.
[2] Foresta C, Moro E, Garolla A, Onisto M, Ferlin A. Y chromosome microdeletions in cryptorchidism and idiopathic infertility. J Clin Endocrinol Metab 1999; 84: 3660-5.
[3] Foresta C, Ferlin A, Moro E, Garolla A, Rossato M, Scandellaari C. Microdeletions of the Y chromosome in Cryptorchidism and in idiopathic male infertility. Ann Ital Med Int 1999;14:151-8.

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Correspondence to: Dr.Kiran Kucheria, Prof. and Head,Department of Anatomy and Genetics, All India Institute of Medical Sciences (AIIMS). New Delhi-110029, India.
Tel: +91-11-659 3216 Fax +91-11-686 2663
E-mail: kkucheria@hotmail.com
Received 2002-04-29      Accepted 2002-05-08