46,xx Male: Clinical, Hormonal/Genetic Findings

Castiñeyra, G; Copelli, Silvia; Levalle, Oscar

doi:10.1080/01485010290031556

Cited by 20 publications

(7 citation statements)

References 24 publications

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“…Human infertility represents a public health concern affecting 10–15% of all couples [1]. Despite advances in diagnosis and treatment, approximately 30% of cases are still considered idiopathic [2].…”

Section: Introductionmentioning

confidence: 99%

Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans

et al. 2016

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Recurrent spontaneous abortion (RSA) is a common cause of infertility, but previous attempts at identifying RSA causative genes have been relatively unsuccessful. Such failure to describe RSA aetiological genes might be explained by the fact that reproductive phenotypes should be considered as quantitative traits resulting from the intricate interaction of numerous genetic, epigenetic and environmental factors. Here, we studied an interspecific recombinant congenic strain (IRCS) of Mus musculus from the C57BL6/J strain of mice harbouring an approximate 5 Mb DNA fragment from chromosome 13 from Mus spretus mice (66H-MMU13 strain), with a high rate of embryonic resorption (ER). Transcriptome analyses of endometrial and placental tissues from these mice showed a deregulation of many genes associated with the coagulation and inflammatory response pathways. Bioinformatics approaches led us to select Foxd1 as a candidate gene potentially related to ER and RSA. Sequencing analysis of Foxd1 in the 66H-MMU13 strain, and in 556 women affected by RSA and 271 controls revealed non-synonymous sequence variants. In vitro assays revealed that some led to perturbations in FOXD1 transactivation properties on promoters of genes having key roles during implantation/placentation, suggesting a role of this gene in mammalian implantation processes.

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Section: Introductionmentioning

confidence: 99%

Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans

et al. 2016

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“…Infertility is a worldwide reproductive health problem which affects approximately 15% of couples, with the man responsible for approximately half of the cases 1 2 . Asthenozoospermia, a common cause of male infertility, is characterized by reduced motility or absent sperm motility in the fresh ejaculate, which prevents the sperm from moving to the egg and penetrating it, eventually leading to infertility 3 4 .…”

mentioning

confidence: 99%

Mitochondria-related miR-151a-5p reduces cellular ATP production by targeting CYTB in asthenozoospermia

Zhou

Wang

Qin

et al. 2015

Sci Rep

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Mitochondria, acting as the energy metabolism factory, participate in many key biological processes, including the maintenance of sperm viability. Mitochondria-related microRNA (miRNA), encoded by nuclear genome or mitochondrial genome, may play an important regulatory role in the control of mitochondrial function. To investigate the potential role of mitochondria-related miRNAs in asthenozoospermia, we adopted a strategy consisting of initial screening by TaqMan Low Density Array (TLDA) and further validation with quantitative reverse transcriptase polymerase chain reaction (qRT-PCR). Validation of the profiling results was conducted in two independent phases. Eventually, two seminal plasma miRNAs (sp-miRs) (miR-101-3p, let-7b-5p) were found to be significantly decreased, while sp-miR-151a-5p was significantly increased in severe asthenozoospermia cases compared with healthy controls. To further study their potential roles in asthenozoospermia, we then evaluated mitochondrial function of GC-2 cells transfected with these potentially functional miRNAs. Our results demonstrated that transfection with miR-151a-5p mimics decreased the mitochondrial respiratory activity. Besides, Adenosine Triphosphate (ATP) level was decreased when transfected with miR-151a-5p mimics. In addition, Cytochrome b (Cytb) mRNA and protein levels were also decreased when miR-151a-5p was overexpressed. These results indicate that miR-151a-5p may participate in the regulation of cellular respiration and ATP production through targeting Cytb.

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“…[20] In the majority of XX males the SRY gene is positive. Most men are diagnosed in adulthood due to infertility caused by azoospermia.…”

Section: Discussionmentioning

confidence: 99%

46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male

2012

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We report on a Yq/15p translocation in a 23-year-old infertile male referred for Klinefelter Syndrome testing, who had azoospermia and bilateral small testes. Hormonal studies revealed hypergonadotropic hypogonadism. Conventional cytogenetic procedures giemsa trypsin giemsa (GTG) and high resolution banding (HRB) and molecular cytogenetic techniques Fluorescence In Situ Hybridization (FISH) performed on high-resolution lymphocyte chromosomes revealed the karyotype 46,XX, t(Y;15)(q12;p11). SRY-gene was confirmed to be present by classical Polymerase Chain Reaction (PCR) methods. His father carried de novo derivative chromosome 15 [45,X, t(Y;15)(q12;p11)] and was fertile; the karyotype of the father using G-band technique confirmed a reciprocal balanced translocation between chromosome Y and 15. In the proband, the der (15) has been inherited from the father because the mother had a normal karyotype (46,XX). In the proband, the der (15) could have produced genetic imbalance leading to unbalanced robertson translocation between chromosome Y and 15, which might have resulted in azoospermia and infertility in the proband. The paternal translocation might have lead to formation of imbalanced ova, which might be resulted infertility in the proband. Sister's karyotypes was normal (46,XX) while his brother was not analyzed.

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46,xx Male: Clinical, Hormonal/Genetic Findings

Cited by 20 publications

References 24 publications

Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans

Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans

Mitochondria-related miR-151a-5p reduces cellular ATP production by targeting CYTB in asthenozoospermia

46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male

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