Azoospermia factor microdeletions: occurrence in infertile men with azoospermia and severe oligozoospermia from China.

Azoospermia factor (AZF) microdeletions are the most frequent genetic cause of male infertility after Klinefelter's syndrome. Although some assisted reproductive techniques such as intracytoplasmic sperm injection (ICSI) have been successfully introduced to clinical treatment for infertile males, the AZF microdeletions might be transmitted from infertile fathers to their male offspring during these procedures. Thus, it is important to carefully evaluate AZF microdeletions in infertile males before assisted reproductive techniques are performed. In this article, we aimed to investigate the frequencies of AZF microdeletions in 137 infertile males with azoospermia and severe oligozoospermia from Jilin province of China and analyse the relationship between the levels of reproductive hormones and AZF microdeletions. Result analysis showed that AZF microdeletions were present in 8 (8.70%) azoospermic males and 3 (6.67%) severely oligozoospermic males. The most frequent microdeletions were detected in the AZFc region, followed by AZFb + c, AZFb and AZFa. And there was no significant correlation between the AZF microdeletion and the levels of reproductive hormones. These findings reinforce the necessity of AZF microdeletion testing among infertile males prior to employment of assisted reproduction techniques in Jilin province of China.

Birth of a healthy child by a woman with inherited Xq duplications who had experienced stillbirths.

A 23-year-old woman who had experienced repeated stillbirths, was found to carry an additional segment on the long arm of the X chromosome. Array comparative genomic hybridization (aCGH) confirmed the origin of the 2 duplications (about 17.11 Mb). Thus, her karyotype was 46, X, dup (X) (q13.2-q21.1), dup(X) (q21.32-q22.1). We demonstrate that aCGH is a useful complementary tool to cytogenetic analysis for accurately determining banding. To our knowledge, this is the first case with normal apparently phenotype who inherited 2 duplications on Xq. Notably, after 2 stillbirths, she bore a healthy, normal female infant via natural pregnancy. Thus, a carrier of this karyotype can birth a phenotypically normal child.

Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter's syndrome.

The prevalence of microdeletions of azoospermia factor (AZF) among azoospermic Klinefelter's syndrome (KFS) patients shows conflicting data. We aimed to detect this frequency in a Northeast Chinese population, and to investigate the possible association between AZF microdeletions and KFS by comparison with previous conflicting reports. Eighty men affected with KFS and a random healthy control group comprising 60 fertile men and women were recruited. AZF microdeletions were detected by multiplex polymerase chain reaction using 9 specific sequence-tagged sites. Karyotype analyses were performed on peripheral blood lymphocytes using standard G-banding. Finally, azoospermia was confirmed in 77 men affected with KFS and no AZF microdeletions were found. Karyotype analysis revealed 1 patient with karyotype 47,XXY,inv (9) (p11, q13), and 2 with mosaic karyotypes (46,XX/47,XXY and 46,XY/47,XXY). All other patients had karyotype 47,XXY. Review of the literature showed that these results were similar to those of other regions of Northeast Asia, but differed from those obtained from Caucasian populations. Our results supported the proposal that AZF microdeletions and KFS result from separate genetic defects. The prevalence of AZF in azoospermic KFS patients varies among populations, and it might result from genetic drift or selective pressure. These results suggest that routine screening for classical AZF microdeletions among infertile azoospermic men with a 47,XXY karyotype might not be necessary in Northeast Chinese individuals. However, it remains imperative for patients considering assisted reproductive treatments, particularly for those with mosaic karyotypes.

[Y chromosome microdeletions in severe oligospermia men with varicocele].

OBJECTIVE: To investigate Y chromosome microdeletions in severe oligospermia men with varicocele. METHODS: We randomly selected 100 cases of severe oligospermia with left varicocele (sperm concentration <5 x 10(6)/ml, group 1), 100 cases of mild oligospermia with left varicocele (sperm concentration 10 -20 x 10(6)/ml, group 2), 100 cases of idiopathic infertility with severe oligospermia (group 3), 100 cases of idiopathic infertility with moderate oligospermia (group 4) and 30 normal fertile men as controls (group 5). We used polymerase chain reaction (PCR) technology to screen 9 sequence tagged sites (STS) of the AZF a, b and c regions and detect Y chromosome microdeletions. RESULTS: AZF microdeletions were found in 19 patients in group 1 (19%) and 11 in group 3 (11%), with a higher rate in the former than in the latter, but not in the other three groups. CONCLUSION: Screening of Y chromosome microdeletions should be performed before the treatment of severe spermatogenesis with varicocele.