Investigation of AZF microdeletions in patients with Klinefelter syndrome

Lx, Li; Dai, Hongyue; Xp, Ding; Yp, Zhang; Xh, Zhang; Hy, Ren; Zy, Chen

doi:10.4238/2015.november.25.2

Cited by 17 publications

(18 citation statements)

References 27 publications

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“…The incidence of Y chromosome deletion is 10.8% among Chinese infertile males, and its incidence among azoospermia and severe oligospermia patients is 11.75 and 8.51%, respectively (Arruda et al, 2007;Li et al, 2015). The AZF site, located on the long arm of the Y chromosome, contains a large number of microdeletions.…”

Section: Discussionmentioning

confidence: 99%

Correlation between Y chromosome microdeletion and male infertility

Liu¹,

Hu²,

Guo³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. Dyszoospermia due to genetic factors is the leading cause of male infertility. To explore the correlation between azoospermia factor (AZF) microdeletion of the Y chromosome and male infertility, we evaluated AZF microdeletion on the long arm of the Y chromosome in 166 infertile males and 50 fertile males using multiplex polymerase chain reactions amplification and gel electrophoresis. The results demonstrated that 28 individuals had varying degrees of microdeletion in the AZF region (16.90%); 12 out of the 76 males with azoospermia and 16 out of the 90 males with oligospermia had AZF microdeletion. AZF microdeletion was not observed in any of the healthy controls. In addition, 53.60% of the AZF microdeletions occurred in the AZFc region. It can be concluded that AZF microdeletion on the long arm of the Y chromosome can result in male spermatogenesis dysfunction. Detection of AZF microdeletion can provide a theoretical basis for genetic counseling, as well as improve the diagnosis and treatment of this disease.

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Section: Discussionmentioning

confidence: 99%

Correlation between Y chromosome microdeletion and male infertility

Liu¹,

Hu²,

Guo³

et al. 2016

Genet. Mol. Res.

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“…In one report, Y chromosome microdeletions spanning the AZFa and AZFb loci were found in four of the 14 azoospermic patients with KS . Another report identified the AZFb+c+d microdeletion in one case of KS out of 111 cases that were analyzed . However, such cases are rare.…”

Section: Discussionmentioning

confidence: 99%

“…11 Another report identified the AZFb+c+d microdeletion in one case of KS out of 111 cases that were analyzed. 12 However, such cases are rare.…”

Section: Discussionmentioning

confidence: 99%

“…Currently, these policies are entrusted to each facility. Furthermore, although many cases of azoospermia factor (AZF) microdeletion in non‐obstructive azoospermia have been described, there are few reports of AZF microdeletion in patients with KS …”

Section: Introductionmentioning

confidence: 99%

“…Furthermore, although many cases of azoospermia factor (AZF) microdeletion in non-obstructive azoospermia have been described, 10 there are few reports of AZF microdeletion in patients with KS. 11,12 Micro-TESE at Niigata University Medical and Dental Hospital in Niigata, Japan, is led by obstetricians and gynecologists and was first performed in August, 2015. Subsequently, from October, 2015 to April, 2016, micro-TESE was performed on five men with non-mosaic KS whose goal involved having a child.…”

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confidence: 99%

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Microdissection testicular sperm extraction in five Japanese patients with non‐mosaic Klinefelter's syndrome

Chihara

Ogi

Ishiguro

et al. 2018

Reprod Medicine & Biology

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CasesMicrodissection testicular sperm extraction (micro‐TESE) was performed on five Japanese men with non‐mosaic Klinefelter's syndrome (KS) and non‐obstructive azoospermia in the authors' department. Here is reported the operative results and partner's clinical course for two cases where spermatozoa could be acquired. Also encountered was a man with non‐mosaic KS with the partial deletion of azoospermia factor (AZF)b. Because this is rare, it is reported in detail in the context of the previous literature. This case series describes the first experience of micro‐TESE by gynecologists in the current department.OutcomeThe egg collection date was adjusted to the micro‐TESE day by using the modified ultra‐long method. Intracytoplasmic sperm injection (ICSI) was implemented for two men whose spermatozoa were acquired by micro‐TESE, with these progressing to the blastocyst stage. Subsequently, one case conceived after the transfer of fresh embryos and a healthy baby was delivered. However, spermatozoa could not be retrieved from the man with non‐mosaic KS who was harboring the partial deletion of AZFb.ConclusionThese findings suggest that ovulation induction by using the modified ultra‐long method with micro‐TESE and ICSI on the same day represents an effective treatment option for men with non‐mosaic KS. As there are cases where AZF deletion is recognized among patients with non‐mosaic KS, screening before micro‐TESE is strongly recommended.

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