Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients

To investigate the clinical, hormonal, and genetic factors in infertile men with idiopathic nonobstructive azoospermia (NOA) or azoospermic Klinefelter syndrome (KFS), a total of 556 and 96 patients, respectively, were included in this study. All patient samples were analyzed cytogenetically. Serum reproductive hormone levels were measured. Microdeletions in the azoospermia factor (AZF) region of the Y chromosome were detected by multiplex PCR using 16 specific sequence-tagged sites. FSH and LH levels in both NOA and KFS patients were significantly higher than the normal range, and the testosterone level in KFS patients was significantly lower. Ninety-two (95.8%) of the KFS patients showed non-mosaic 47,XXY karyotypes and 47,XXY,inv(9)(p11.1q13); the other KFS patients had mosaic karyotypes of 47,XXY/46,XY, 47,XXY/46,XX, and 47,XXY/48,XXXY/46,XX. Among the 556 idiopathic NOA patients with normal karyotypes, 67 (12.05%) had microdeletions in the AZF region of the Y chromosome. Microdeletions were most frequently detected in the AZFc region, followed by AZFa, AZFb, AZFbc, and partial AZFc deletions. However, Y chromosome microdeletions were not found in any of the azoospermic KFS patients. In view of the hormonal and genetic abnormalities in infertile men with idiopathic NOA and with azoospermic KFS, genetic testing for karyotype, Y chromosome microdeletions, and hormonal parameters is advocated.Cytogenet Genome Res
Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research

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We present a hypothesis whereby a number of environmental, lifestyle and clinical factors conspire to induce oxidative DNA damage in the male germ line which then triggers the formation de novo mutations which can have a major impact on the health of the offspring including their subsequent fertility.
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Klinefelter syndrome (KS) is the most common genetic abnormality present in infertile men, and the vast majority of nonmosaic KS patients will have nonobstructive azoospermia (NOA). Microdissection testicular sperm extraction (mTESE) is one of the most effective methods of obtaining testicular sperm, with approximately 50% of men with KS having sperm found at mTESE. Interventions that can optimize sperm retrieval rates (SRR), or at least more accurately guide preoperative counseling, would be of great value to the treatment of men with KS and NOA.
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Reflections Source Type: research
Abstract MicroRNAs are small, non-coding, single-strand oligonucleotides which regulate gene expression. There is little evidence in the literature about their role in azoospermia and no studies have investigated their presence in the seminal plasma of men with Klinefelter syndrome. This retrospective study investigated if there were any differences in microRNA expression (miR-509-5p, miR-122-5p, miR-34b-3p, miR-34c-5p) in the seminal plasma of patients with obstructive azoospermia, non-obstructive azoospermia and Klinefelter syndrome. Hormone levels were also investigated to identify any correlations with microRN...
Source: Molecular Biology Reports - Category: Molecular Biology Authors: Tags: Mol Biol Rep Source Type: research
Purpose of review The review presents a clinical algorithm for the evaluation and treatment for adolescents with Klinefelter's syndrome who desire fertility preservation. Recent findings Sperm is present in the ejaculate in around 8% of men with Klinefelter's syndrome. Although most are severely oligospermic/azoospermic, 43–45% of men will have sperm found during a testicular sperm extraction, reaching up to 70% in adolescents. Summary Klinefelter's syndrome (47, XXY) causes hypogonadotophic hypogonadism and severe oligospermia/azoospermia rendering natural conception rare. During puberty, boys often require ...
Source: Current Opinion in Urology - Category: Urology & Nephrology Tags: GENDER MEDICINE, INFERTILITY AND ERECTILE FUNCTION: Edited by Ryan Flannigan and Ranjith Ramasamy Source Type: research
Abstract Klinefelter syndrome (KS) is the most common chromosomal syndrome, causing infertility in men and leading to non-obstructive azoospermia. Previous studies on mosaicism have shown contradictory results on its correlation with both serum hormone levels and the presence of spermatozoa in the ejaculate of KS, KS-like, and non-KS-like infertile patients. So, the present study was designed to detect low-grade mosaicism in the peripheral blood lymphocytes and buccal mucosa cells of 14 KS and 8 KS-like patients by using fluorescence in situ hybridization (FISH) and to investigate its correlation with luteinizing ...
Source: Reproductive Biology - Category: Reproduction Medicine Authors: Tags: Reprod Biol Source Type: research
Male factor infertility is an important clinical problem whose most severe phenotype, severe oligospermia or azoospermia, has a variety of genetic causes. Some, like Klinefelter syndrome or cystic fibrosis, are well understood, but most are still unknown, and Y chromosome microdeletions only explain a fraction of the remaining cases. In consanguineous and nonconsanguineous families, whole exome sequencing (WES) has been successfully used to identify likely causal mutations in severe oligospermia (1, 2).
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Reflections Source Type: research
Abstract The aim of this study was to evaluate the predictive value of factors in infertile male patients to retrieve sperm from their testicles before they undergo testicular sperm extraction (TESE). In total, 64 males were enrolled in this study. Infertility was identified as obstructive azoospermia (OA); non-obstructive azoospermia (NOA); Klinefelter syndrome (KS); and cryptozoospermia (Crypt). Age, body mass index and concomitant conditions were noted. Testicular volumes, serum levels of Follicle-Stimulating Hormone (FSH), Luteinizing Hormone (LH), testosterone (T) and prolactin were investigated. Sperm retrie...
Source: Systems Biology in Reproductive Medicine - Category: Reproduction Medicine Authors: Tags: Syst Biol Reprod Med Source Type: research
Nonobstructive azoospermia (NOA) remains the most severe form of intrinsic testicular failure. While some genetic etiologies have been reported (Y chromosome microdeletions, Klinefelter's syndrome, XXY males, whole chromosome translocations), most genetic causes of testicular failure remain poorly defined. Even when we can identify the genetic basis for NOA, we still lack effective targeted therapy. As a result, the correction of genetic infertility currently remains a treatment of scientific imagination.
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Fertile battle Source Type: research
Abstract The aim of this study was to establish the prevalence of chromosomal abnormalities and microdeletions on the Y chromosome in Tunisian infertile men with severe oligozoospermia or non-obstructive azoospermia. In cases of azoospermia, we aimed also to correlate histological results after negative testicular sperm extraction with the type of Y chromosome microdeletion. 84 infertile patients and 52 controls were screened for karyotypic abnormalities using G-banding and Yq chromosome microdeletions using multiplex PCR. 7 infertile males (8.3%) carried chromosomal abnormalities and 8 (9.5%) presented Y chromoso...
Source: Annales de Biologie Clinique - Category: Biochemistry Authors: Tags: Ann Biol Clin (Paris) Source Type: research
In conclusion, the frequency of DSD in this study was 14%, consisting mainly of sex chromosome abnormalities but also 46,XX and 46,XY DSD. However, this figure may increase as further investigations are conducted in idiopathic cases with signs of primary testicular failure, which may present partial gonadal dysgenesis. PMID: 30372699 [PubMed - as supplied by publisher]
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - Category: Genetics & Stem Cells Authors: Tags: Sex Dev Source Type: research
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