29 documents found, page 1 of 3

Sinopse do diagnóstico molecular de patologias do desenvolvimento sexual no Dep...

Relevance of Multigene Panels in the Molecular diagnosis of patients with disor...

Introduction: Next generation sequencing (NGS) is increasingly used in the molecular diagnosis of rare diseases, such as disorders of sexual development (DSD), allowing the analysis of a greater number of genes in a single assay, providing faster results with reduced costs. DSD patients may present high phenotypic overlap (genital ambiguity, sex reversal, delayed/absent puberty, infertility) posing challenges t...

Contribution of TEX15 genetic variants to the risk of developing severe non-obs...

Background: Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe oligozoospermia (SO) or non-obstructive azoospermia (NOA). Most cases of SPGF have an unknown aetiology, and it is known that this idiopathic form of male infertility represents a complex condition...

Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Se...

We aimed to analyze the role of the common genetic variants located in the PIN1 locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood-testis barrier, in the genetic risk of developing male infertility due to a severe spermatogenic failure (SPGF). Genotyping was performed using TaqMan genotyping assays for three PIN1 taggers (rs228783...

Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic ...

Background: Despite advances in routine prenatal cytogenetic testing, most anomalous fetuses remain without a genetic diagnosis. Exome sequencing (ES) is a molecular technique that identifies sequence variants across protein-coding regions and is now increasingly used in clinical practice. Fetal phenotypes differ from postnatal and, therefore, prenatal ES interpretation requires a large amount of data deriving ...

Immune and spermatogenesis-related loci are involved in the development of extr...

We conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. Two genomic regions were associated with the most severe histological pattern of SPGF, defined by Sertoli cell-only (SCO) phenotype, name...

Relevant markers for molecular diagnosis of 46,XX SRY-positive azoospermic men

Introduction: Molecular screening of Y-chromosome AZF microdeletions, along with chromosome analysis, is the first step of the genetic diagnosis routinely performed in infertile men with severe oligozoospermia or non-obstructive azoospermia. These deletions can cover one or more of the three AZF regions, each one with different testicular histological phenotypes ranging from Sertoli cell only (SCO) syndrome (AZ...

Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment

Objective: To evaluate whether SOHLH2 intronic variation contributes to the genetic predisposition to male infertility traits, including severe oligospermia (SO) and different nonobstructive azoospermia (NOA) clinical phenotypes. Design: Genetic association study. Setting: Not applicable. Patient(s): Five hundred five cases (455 infertile patients diagnosed with NOA and 50 with SO) and 1,050 healthy controls fr...

Evaluation of Male Fertility-Associated Loci in a European Population of Patien...

Infertility is a growing concern in developed societies. Two extreme phenotypes of male infertility are non-obstructive azoospermia (NOA) and severe oligospermia (SO), which are characterized by severe spermatogenic failure (SpF). We designed a genetic association study comprising 725 Iberian infertile men as a consequence of SpF and 1058 unaffected controls to evaluate whether five single-nucleotide polymorphi...

Assessing the impact of Copy Number Variation on severe spermatogenic impairmen...

Background: Azoospermia, the most severe form of male infertility, affects approximately 1% of men worldwide and in the great majority of the cases the etiology of the disease remains unidentified. Given the large number of genes involved in spermatogenesis it is likely that a proportion of cases of idiopathic azoospermia have a genetic basis. We have previously described, using SNP arrays, an excess of low fre...