Y chromosome microdeletions in infertile men with cryptorchidism. 2003

Tanja Kunej, and Branko Zorn, and Borut Peterlin
Division of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Center, Ljubljana, Slovenia.

OBJECTIVE To determine whether cryptorchidism associated with azoospermia or oligozoospermia may be due to microdeletions of the Y chromosome. METHODS Controlled clinical study. METHODS Division of Medical Genetics and the Andrology Centre, Department of Obstetrics and Gynecology, University Medical Center, Ljubljana. METHODS Ninety men from infertile couples (36 azoospermics, 35 oligozoospermics, and 19 normozoospermics) with a medical history of cryptorchidism. Nineteen excryptorchid patients with cryptorchidism and Y chromosome microdeletions among 3099 patients from 14 publications. METHODS Collection of semen and blood samples. METHODS Medical history, testicular volume, sperm characteristics, serum FSH levels, testicular histology, presence or absence of Y chromosome microdeletions, including all known Y chromosome genes/gene families in the azoospermia factor (AZF) region. RESULTS Deletions of the Y chromosome were found in 2 out of 71 cryptorchid patients with azoospermia or oligozoospermia (2.8%). The literature review showed that the incidence of microdeletions in infertile patients with cryptorchidism is lower in comparison with the general population of infertile men (4.9% vs. 8.1%), and that the frequency of cryptorchidism in patients with Y chromosome deletions (6 out of 103, 5.8%) is significantly lower in comparison to infertile patients without deletions (178 out of 1141, 15.6%). CONCLUSIONS No causal relation exists between Y chromosome microdeletions and cryptorchidism.

UI MeSH Term Description Entries
D007248 Infertility, Male The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility. Sterility, Male,Sub-Fertility, Male,Subfertility, Male,Male Infertility,Male Sterility,Male Sub-Fertility,Male Subfertility,Sub Fertility, Male
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D003456 Cryptorchidism A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis. Testis, Undescended,Abdominal Cryptorchidism,Bilateral Cryptorchidism,Cryptorchidism, Unilateral Or Bilateral,Cryptorchism,Inguinal Cryptorchidism,Testes, Undescended,Undescended Testis,Unilateral Cryptorchidism,Cryptorchidism, Abdominal,Cryptorchidism, Bilateral,Cryptorchidism, Inguinal,Cryptorchidism, Unilateral,Undescended Testes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D013076 Sperm Count A count of SPERM in the ejaculum, expressed as number per milliliter. Sperm Number,Count, Sperm,Counts, Sperm,Number, Sperm,Numbers, Sperm,Sperm Counts,Sperm Numbers
D041322 Chromosomes, Human, Y The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans. Y Chromosome, Human,Chromosome, Human Y,Chromosomes, Human Y,Human Y Chromosome,Human Y Chromosomes,Y Chromosomes, Human

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